RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Hematologic Neoplasms
Accession: DOID:9006532
browse the term
Definition: Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES.
Synonyms: exact_synonym: Hematological Neoplasms; Hematopoietic Malignancies; Hematopoietic Malignancy; hematologic neoplasm; hematological neoplasm; hematopoietic neoplasm; hematopoietic neoplasms
narrow_synonym: Common Hematopoietic Neoplasm
primary_id: MESH:D019337
xref: EFO:1000201
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22311042
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
RGD
PMID:19274076
RGD:11100003
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: Hematological neoplasm
ClinVar
PMID:19571318 PMID:20543203 PMID:20619386 PMID:20694012 PMID:23696637 PMID:24803665 PMID:25283271 PMID:25358541 PMID:25741868 PMID:25952305 PMID:28414188 PMID:28492532 PMID:32933826 More...
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:polymorphism: :
RGD
PMID:21108329
RGD:11352750
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: : ClinVar Annotator: match by term: Hematologic neoplasm CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9694803 PMID:15806161 PMID:18305557 PMID:21680795 PMID:21714648 PMID:24904105 PMID:24997145 PMID:25581430 PMID:25741868 PMID:25807284 PMID:26102509 PMID:26522332 PMID:27365488 PMID:27666367 PMID:27895058 PMID:28492532 PMID:31064749 PMID:31248877 PMID:31704777 PMID:32693409 PMID:33226740 PMID:33768492 PMID:11319801 More...
RGD:10450600
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
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Gstm1
glutathione S-transferase mu 1
susceptibility no_association
ISO
associated with Breast Neoplasms;
RGD
PMID:11792413 PMID:10383893
RGD:10450857 , RGD:10755329
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
associated with Breast Neoplasms;
RGD
PMID:11792413
RGD:10450857
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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Hspa5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23777986
NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:mutations:cds:p.M694V,E148Q,M680I(human)
RGD
PMID:20518828
RGD:11531118
NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973
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Mthfr
methylenetetrahydrofolate reductase
treatment no_association
ISO
DNA:SNP: :1298A>C (human) DNA:SNP: :677C>T (human)
RGD
PMID:21984221 PMID:21984221
RGD:10449413 , RGD:10449413
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Muc1
mucin 1, cell surface associated
ISO
associated with Pneumonia, Pneumocystis; protein:increased expression:serum
RGD
PMID:12186700
RGD:5131276
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutation:cds:p.Q192R (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22800774 PMID:22800774
RGD:11552572
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Dot1l
DOT1 like histone lysine methyltransferase
treatment
ISO
RGD
PMID:23801631
RGD:9588291
NCBI chr 7:8,918,764...8,959,474
Ensembl chr 7:8,917,786...8,956,475
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Rnf20
ring finger protein 20
disease_progression
ISO
RGD
PMID:23412334
RGD:9831405
NCBI chr 5:68,771,507...68,797,240
Ensembl chr 5:63,976,045...64,001,754
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Ddx41
DEAD-box helicase 41
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30926971
NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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Flt3
Fms related receptor tyrosine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30926971
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:bone marrow cell:
RGD
PMID:17156408
RGD:11040507
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Hoxb9
homeo box B9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30926971
NCBI chr10:81,237,312...81,240,818
Ensembl chr10:81,237,312...81,240,818
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Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30926971
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Npm1
nucleophosmin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30926971
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645 Ensembl chr X:17,739,941...17,751,645
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Nup98
nucleoporin 98 and 96 precursor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30926971
NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30926971
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30926971
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified
ClinVar
PMID:7585650 PMID:8571952 PMID:9195225 PMID:9238033 PMID:15982307 PMID:16135823 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25716912 PMID:25741868 PMID:26884178 PMID:27504877 PMID:28492532 PMID:29607586 PMID:35699229 More...
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Abcb1a
ATP binding cassette subfamily B member 1A
susceptibility
ISO
DNA:snps, haplotype:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22674224 PMID:22674224
RGD:8657089
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Abcc2
ATP binding cassette subfamily C member 2
treatment
ISO
DNA:SNP:5'UTR:rs717620(human) DNA:SNPs: :rs717620(human)
RGD
PMID:24404132 PMID:25007187
RGD:11080959 , RGD:11080979
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcg2
ATP binding cassette subfamily G member 2
disease_progression
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:15521915 PMID:12100141
RGD:11081076 , RGD:11081143
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11984797 PMID:21898527
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
RGD
PMID:17065136
RGD:11100012
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Aicda
activation-induced cytidine deaminase
treatment
ISO
RGD
PMID:19759560
RGD:11039451
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684603 PMID:19684604
NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
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Arnt
aryl hydrocarbon receptor nuclear translocator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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Bcl2
BCL2, apoptosis regulator
severity
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:25982455
RGD:11076595
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
treatment
ISO
mRNA:increased expression:blood, mononuclear cell (human)
RGD
PMID:12469194 PMID:19020783
RGD:11353852 , RGD:11353866
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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Bcr
BCR activator of RhoGEF and GTPase
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Casp8
caspase 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22010212
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
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Cast
calpastatin
ISO
protein:increased expresssion:B cell
RGD
PMID:11264179
RGD:5509822
NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:22391157
RGD:11352824
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Cd40lg
CD40 ligand
ISO
RGD
PMID:9292526
RGD:11352271
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd46
CD46 molecule
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:16353080
RGD:11352810
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd79b
CD79b molecule
ISO
protein:decreased expression:bone marrow, mononuclear cell (human)
RGD
PMID:21487112
RGD:11250414
NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human)
RGD
PMID:24283754
RGD:11354967
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdk6
cyclin-dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24736461
NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:30,646,460...30,829,634
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression no_association susceptibility
ISO
DNA:deletion: : DNA:missense mutations:cds: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD ClinVar RGD
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 PMID:9166859 PMID:9389568 PMID:9823374 PMID:10389768 PMID:10667595 PMID:10719365 PMID:11518711 PMID:11687599 PMID:15075790 PMID:16234564 PMID:16818274 PMID:16896043 PMID:17218939 PMID:18335566 PMID:18519632 PMID:20453839 PMID:21085193 PMID:21462282 PMID:22440936 PMID:24733792 PMID:25078331 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26670561 PMID:26681309 PMID:27756164 PMID:27960642 PMID:27993330 PMID:28454591 PMID:28492532 PMID:28640387 PMID:28765326 PMID:28830827 PMID:30207590 PMID:30339520 PMID:31921681 PMID:32191290 PMID:33823155 PMID:35001868 PMID:10090949 PMID:9204978 PMID:25675863 PMID:26104880 More...
RGD:11251764 , RGD:11252081 , RGD:11252082 , RGD:11057958
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
disease_progression
ISO
RGD
PMID:25675863
RGD:11252082
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
PMID:27993330
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Cebpe
CCAAT/enhancer binding protein epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684604
NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
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Cfb
complement factor B
ISO
DNA:missense mutation:p.R32Q b(human)
RGD
PMID:6958349
RGD:11041155
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Crebbp
CREB binding protein
disease_progression
ISO
DNA:mutations:multiple
RGD
PMID:25917266
RGD:11060149
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Crlf2
cytokine receptor-like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838194
NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:9250830
RGD:11039038
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cspg4
chondroitin sulfate proteoglycan 4
severity
ISO
RGD
PMID:8562939
RGD:734840
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
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Cyba
cytochrome b-245 alpha chain
ISO
mRNA:increased expression:peripheral blood mononuclear cell:
RGD
PMID:19222940
RGD:11040545
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility no_association
ISO
DNA:polymorphism:3"UTR:rs4646903(human) DNA:polymorphism:cds:2452C>A(p.T461N)(human) DNA:polymorphism:3'UTR:3801T>C(human)
RGD
PMID:22964275 PMID:23725389 PMID:16676594
RGD:11352714 , RGD:11352725 , RGD:11352728
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Cyp2c79
cytochrome P450, family 2, subfamily c, polypeptide 79
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
susceptibility
ISO
DNA:polymorphisms: : DNA:SNP,deletion:splice junction,exon:1934G>A (human)
RGD
PMID:11037802 PMID:19593802
RGD:11352820 , RGD:11252111
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11774269
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
disease_progression susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:19650988 PMID:22215203
RGD:11353796 , RGD:11353805
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Dhfr
dihydrofolate reductase
disease_progression
ISO
DNA:polymorphisms, haplotype:promoter: DNA:polymorphisms: :-317A>G, 829C>T (human)
RGD
PMID:19861437 PMID:9226157 PMID:22969948 PMID:12972803
RGD:11039542 , RGD:11039543 , RGD:11039544 , RGD:11039545
NCBI chr 2:25,320,895...25,346,004
Ensembl chr 2:23,586,031...23,613,713
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Dnmt3a
DNA methyltransferase 3 alpha
treatment
ISO
DNA:mutations:exon, intron:p.R882(human)
RGD
PMID:25242092
RGD:11041125
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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Dntt
DNA nucleotidylexotransferase
ISO
protein:increased activity:peripheral blood,bone marrow:
RGD
PMID:7020399
RGD:8694149
NCBI chr 1:239,856,391...239,888,283
Ensembl chr 1:239,856,391...239,888,282
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Dpyd
dihydropyrimidine dehydrogenase
disease_progression no_association
ISO
DNA:SNP: :85T>C (human) DNA:splice-site mutation:intron:IVS14+1G>A (human) DNA:SNPs: :2194G>A, 1156G>T (human)
RGD
PMID:26846104 PMID:26846104 PMID:26846104
RGD:11098453 , RGD:11098453 , RGD:11098453
NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982
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Dux4
double homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27776115
NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565
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Ehmt1
euchromatic histone lysine methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Eng
endoglin
disease_progression
ISO
RGD
PMID:17572488
RGD:11041565
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Ephx1
epoxide hydrolase 1
susceptibility no_association
ISO
DNA:missense mutation, haplotype:exon:p.Y113H (human) DNA:missense mutation, haplotype:exon:p.H139R (human) DNA:polymorphisms:exon DNA:SNPs:exon:rs1051740, rs2234922 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21983886 PMID:21983886 PMID:21983886 PMID:19593802 PMID:22930568 PMID:22200898 More...
RGD:11252110 , RGD:11252110 , RGD:11252111 , RGD:11252113 , RGD:11252114
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
susceptibility
ISO
DNA:SNPs: :8092C>A, 19007G>A (human) DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)
RGD
PMID:16723154 PMID:16435384
RGD:11252160 , RGD:11340204
NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
no_association
ISO
DNA:missense mutations: :p.D312N, p.K751Q (human) DNA:haplotype
RGD
PMID:19101034 PMID:21987080
RGD:11252192 , RGD:11340201
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Erg
ETS transcription factor ERG
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD ClinVar
PMID:27776115 PMID:27993330
NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
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Etv6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD ClinVar
PMID:17255265 PMID:26102509
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISS
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:8429686
RGD:11340211
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fas
Fas cell surface death receptor
disease_progression
ISO
protein:increased expression:CD34+ bone marrow cell
RGD
PMID:10500800 PMID:9711907
RGD:11049148 , RGD:11049157
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Fga
fibrinogen alpha chain
ISO
protein:increased expression:serum (human)
RGD
PMID:25317080
RGD:11040558
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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Flt3
Fms related receptor tyrosine kinase 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: FLT3-related condition
OMIM CTD ClinVar
PMID:11290608 PMID:11442493 PMID:14670924 PMID:24728327 PMID:25741868 PMID:28492532 More...
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Fpgs
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25013492
NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35115686
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:blood:
RGD
PMID:19360458
RGD:11040460
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Gh1
growth hormone 1
treatment
ISO
RGD
PMID:2494952
RGD:11352727
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Gnb1
G protein subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia
OMIM CTD ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28087732 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32901917 PMID:32918542 PMID:32963807 PMID:39825153 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Gpi
glucose-6-phosphate isomerase
ISO
RGD
PMID:6589021
RGD:11051848
NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
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Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:17317918 PMID:24698347
RGD:11352774 , RGD:11352812
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gsr
glutathione-disulfide reductase
ISO
RGD
PMID:24191316
RGD:11059506
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Gstm1
glutathione S-transferase mu 1
disease_progression susceptibility no_association
ISO
RGD
PMID:10666194 PMID:15738600 PMID:12827651 PMID:14607752
RGD:10450829 , RGD:10755321 , RGD:10755409 , RGD:10755410
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
disease_progression susceptibility no_association
ISO
DNA:haplotype:cds: DNA:transition mutation:exon: DNA:polymorphism: :1578 a>G(human)
RGD
PMID:10666194 PMID:15738600 PMID:23979883
RGD:10450829 , RGD:10755321 , RGD:10755417
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
disease_progression susceptibility
ISO
RGD
PMID:10666194 PMID:14607752
RGD:10450829 , RGD:10755410
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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H1f2
H1.2 linker histone, cluster member
susceptibility
ISO
DNA:SNP, haplotype:enhancer: (rs807212) (human)
RGD
PMID:19806355
RGD:10755490
NCBI chr17:41,391,106...41,392,597
Ensembl chr17:41,388,477...41,392,635
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Hck
HCK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17344919
NCBI chr 3:141,571,587...141,614,696
Ensembl chr 3:141,571,587...141,614,693
G
Hdac1
histone deacetylase 1
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
G
Hdac2
histone deacetylase 2
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hdac4
histone deacetylase 4
treatment
ISO
RGD
PMID:23948281
RGD:9681454
NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164
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Hfe
homeostatic iron regulator
no_association
ISO
DNA:missense mutation:cds:p.H63D (human) DNA:missense mutation:cds:p.C282Y (human) DNA:missense mutation: :p.H63D (human)
RGD
PMID:10627122 PMID:10627122 PMID:17107905
RGD:10755557 , RGD:10755557 , RGD:10755558
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hk1
hexokinase 1
ISO
protein:decreased activity:platelet
RGD
PMID:21921332
RGD:11353881
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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Hlf
HLF transcription factor, PAR bZIP family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chr10:75,154,244...75,211,884
Ensembl chr10:75,154,507...75,211,935
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Hoxd4
homeo box D4
ISO
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15776434
NCBI chr 3:59,614,464...59,634,042
Ensembl chr 3:59,614,464...59,631,528
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Ifng
interferon gamma
susceptibility
ISO
DNA:SNP: :rs2069727(human)
RGD
PMID:21067287
RGD:10755691
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 DNA:SNPs: (human)
CTD ClinVar RGD
PMID:19684604 PMID:25741868 PMID:27993330 PMID:28492532 PMID:24786325
RGD:151347631
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Ikzf2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr 9:71,046,038...71,191,296
Ensembl chr 9:71,042,440...71,190,867
G
Ikzf3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
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Il10
interleukin 10
treatment
ISO
protein:decreased expression:blood
RGD
PMID:21653647 PMID:15860861
RGD:11049158 , RGD:11049169
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Irf4
interferon regulatory factor 4
ISO
DNA:SNP:intron:rs12203592 (human)
RGD
PMID:19897031
RGD:11526162
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Itpa
inosine triphosphatase
treatment no_association
ISO
DNA:SNPs:exon:94C>A, 138G>A (human) DNA:SNP:intron
RGD
PMID:22009189 PMID:22009189
RGD:10766474 , RGD:10766474
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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Kdm2b
lysine demethylase 2B
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:21310926
RGD:9588255
NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355
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Kdm3b
lysine demethylase 3B
ISO
protein:increased expression:bone marrow, mononuclear cell (human)
RGD
PMID:22615488
RGD:9586728
NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
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Kdm6a
lysine demethylase 6A
severity
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:22377896
RGD:9684944
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Kmt2a
lysine methyltransferase 2A
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:247640 | OMIM:613065
CTD MouseDO
PMID:24736461 PMID:25730765
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Kras
KRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:17910045 PMID:25917266
RGD:11060148 , RGD:11060149
NCBI chr 4:178,185,418...178,218,484
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Lmo2
LIM domain only 2
ISS
OMIM:247640 | OMIM:613065
MouseDO
NCBI chr 3:90,355,234...90,377,970
Ensembl chr 3:90,365,883...90,377,953
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:polymorphisms:cds:p.E148Q,M680I(human)
RGD
PMID:22942567
RGD:11531121
NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973
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Mthfr
methylenetetrahydrofolate reductase
disease_progression treatment
ISO
DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:677C>T (human)
CTD RGD
PMID:16706930 PMID:19923983 PMID:21644011
RGD:10449398 , RGD:10449407
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
disease_progression no_association susceptibility
ISO
DNA:SNP::rs10925235(human) DNA:polymorphism: :2756A>G(human) DNA:polymorphism: :66A>G(human)
RGD
PMID:26605150 PMID:22453148 PMID:15159311 PMID:21618417
RGD:11531136 , RGD:11531137 , RGD:11531140 , RGD:11531141
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:haplotype:cds: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3776455(human)
CTD RGD
PMID:17136115 PMID:17136115 PMID:23940529
RGD:11531133 , RGD:11531135
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Myc
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:25784651
RGD:11532748
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Nat2
N-acetyltransferase 2
susceptibility no_association
ISO
DNA:polymorphisms: : DNA:polymorphisms,haplotype: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22200898 PMID:25804798 PMID:21888617 PMID:22215203
RGD:11532767 , RGD:11532769 , RGD:11353805
NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520
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Nbn
nibrin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia
OMIM CTD ClinVar
PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 PMID:10848790 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11325820 PMID:11953735 PMID:12123493 PMID:12353271 PMID:12505263 PMID:12621246 PMID:12833396 PMID:12845677 PMID:14559852 PMID:14973119 PMID:15185344 PMID:15279809 PMID:15338273 PMID:15474156 PMID:16033915 PMID:16415040 PMID:16474176 PMID:16544999 PMID:16770759 PMID:16810201 PMID:17001621 PMID:17103455 PMID:17496786 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18023021 PMID:18049891 PMID:18280732 PMID:18593981 PMID:18606567 PMID:18612309 PMID:18638378 PMID:18940477 PMID:19393249 PMID:19452044 PMID:19523210 PMID:19584272 PMID:19635536 PMID:19804756 PMID:19813148 PMID:19908051 PMID:20444919 PMID:20805886 PMID:21212067 PMID:21302341 PMID:21698754 PMID:22006311 PMID:22131123 PMID:22293976 PMID:22373003 PMID:22491912 PMID:22841127 PMID:22864661 PMID:22941933 PMID:22995991 PMID:23317186 PMID:23555315 PMID:24033266 PMID:24093751 PMID:24113799 PMID:24396275 PMID:24549055 PMID:24728327 PMID:24830725 PMID:24894818 PMID:25117502 PMID:25186627 PMID:25318351 PMID:25485873 PMID:25503501 PMID:25619955 PMID:25677497 PMID:25712764 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26270727 PMID:26315354 PMID:26467025 PMID:26534844 PMID:26564480 PMID:26681312 PMID:26689913 PMID:26722329 PMID:26787654 PMID:26822949 PMID:26845104 PMID:26898890 PMID:27148588 PMID:27150568 PMID:27153395 PMID:27616075 PMID:27621404 PMID:27978560 PMID:28076423 PMID:28135145 PMID:28152038 PMID:28261280 PMID:28374160 PMID:28376765 PMID:28492532 PMID:28528518 PMID:28591191 PMID:28726808 PMID:28873162 PMID:28888541 PMID:29335925 PMID:29368341 PMID:29371908 PMID:29419426 PMID:29522266 PMID:29596542 PMID:29615459 PMID:29659569 PMID:29678143 PMID:29785153 PMID:29915322 PMID:29922827 PMID:29961768 PMID:30043523 PMID:30256826 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30426508 PMID:30441849 PMID:30590007 PMID:30651582 PMID:30982232 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31415627 PMID:31666926 PMID:31780696 PMID:31874108 PMID:32068069 PMID:32295079 PMID:32427313 PMID:32566746 PMID:32668560 PMID:32832836 PMID:32936981 PMID:32980694 PMID:33050356 PMID:33309985 PMID:33471974 PMID:33471991 PMID:33800431 PMID:33840814 PMID:34072463 PMID:34072659 PMID:34284872 PMID:34544220 PMID:35245693 PMID:35264596 PMID:35309086 PMID:35654374 PMID:36003761 PMID:36243179 PMID:36346689 More...
NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:29,459,457...29,494,150
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Nos3
nitric oxide synthase 3
susceptibility disease_progression
ISO
DNA:SNP: :rs3918186(human) DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
RGD
PMID:23922896 PMID:20510681
RGD:11533639 , RGD:11533646
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Notch3
notch receptor 3
ISS
OMIM:247640 | OMIM:613065
MouseDO
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
DNA:mutation: :609C>T (human) DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11774269 PMID:17332311 PMID:18444911 PMID:11774269
RGD:10769347 , RGD:10769359
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:missense mutation:cds:
RGD
PMID:25204082
RGD:11535045
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24076604
NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
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Nt5c2
5'-nucleotidase, cytosolic II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23377183
NCBI chr 1:255,712,797...255,838,285
Ensembl chr 1:245,772,277...245,897,913
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Nup214
nucleoporin 214
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD ClinVar OMIM
PMID:25741868
NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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Pag1
phosphoprotein membrane anchor with glycosphingolipid microdomains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr 2:91,935,378...92,076,937
Ensembl chr 2:92,057,216...92,069,849
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Pax5
paired box 5
susceptibility
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 | ClinVar Annotator: match by term: PAX5-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24013638 PMID:24728327 PMID:25741868 PMID:26214592 PMID:27993330 PMID:28492532 PMID:30643249 PMID:35094443 More...
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human)
RGD
PMID:22976839
RGD:11552580
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:blood (human)
RGD
PMID:27275197
RGD:11535025
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prdm14
PR/SET domain 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19043588
NCBI chr 5:6,082,163...6,092,712
Ensembl chr 5:6,082,442...6,092,712
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Pten
phosphatase and tensin homolog
ISS
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human)
RGD
PMID:9744491
RGD:11041762
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms, haplotypes:cds:multiple DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)
RGD
PMID:22434102 PMID:9744491
RGD:11041749 , RGD:11041762
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Runx1
RUNX family transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255265
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Slc19a1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255265
NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972
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Snrpe
small nuclear ribonucleoprotein polypeptide E
severity
ISO
mRNA:decreased expression:bone marrow, blood, mononuclear cell (human)
RGD
PMID:23915977
RGD:10768836
NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310 Ensembl chr 8:45,050,986...45,057,310
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Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 5:128,586,776...128,600,976
Ensembl chr 5:128,587,701...128,600,976
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Tal2
TAL bHLH transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tcn2
transcobalamin 2
ISO
protein:altered activity:plasma:
RGD
PMID:8754152
RGD:11059889
NCBI chr14:83,036,935...83,052,187
Ensembl chr14:78,813,343...78,828,489
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Tert
telomerase reverse transcriptase
ISO
DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human)
RGD
PMID:23066086 PMID:15621763
RGD:11038654 , RGD:11038667
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tm9sf2
transmembrane 9 superfamily member 2
ISO
mRNA:increased expression:bone marrow, mononuclear cells (human)
RGD
PMID:12730115
RGD:2317244
NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tpmt
thiopurine S-methyltransferase
treatment no_association
ISO
DNA:SNPs:multiple DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human) DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) DNA:SNPs: :multiple
RGD
PMID:17164697 PMID:22009189 PMID:22009189 PMID:24499706
RGD:11038720 , RGD:10766474 , RGD:10766474 , RGD:11038723
NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
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Ttc12
tetratricopeptide repeat domain 12
ISO
DNA:hypermethylation:5'end:CpG dinucleotide
RGD
PMID:17657212
RGD:405866376
NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087
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Tyms
thymidylate synthetase
treatment
ISO
DNA:repeats: : rs347430033(human)
RGD
PMID:25007187
RGD:11080979
NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536
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Uty
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
severity
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:22377896
RGD:9684944
NCBI chr Y:942,838...1,105,313
Ensembl chr Y:924,168...1,103,422
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Vpreb1a
V-set pre-B cell surrogate light chain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846
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Xrcc1
X-ray repair cross complementing 1
susceptibility no_association
ISO
DNA:missense mutation, haplotype: :p.R399Q (human) DNA:missense mutation: :p.R194W (human) DNA:missense mutation: :p.R399Q (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21983886 PMID:21983886 PMID:19101034 PMID:19101034
RGD:11252110 , RGD:11252192 , RGD:11252192
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
susceptibility
ISO
DNA:polymorphism:G15631T
RGD
PMID:19144407
RGD:6480472
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Abcg2
ATP binding cassette subfamily G member 2
ISO
RGD
PMID:21640380
RGD:11081147
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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Birc5
baculoviral IAP repeat-containing 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16166298
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Coro7
coronin 7
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia
ClinVar
NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
associated with Down Syndrome;DNA:mutations:multiple (human)
RGD
PMID:24056718
RGD:10450890
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia
ClinVar
PMID:15070711 PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 More...
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:bone marrow cell:
RGD
PMID:17156408
RGD:11040507
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Jak3
Janus kinase 3
ISO
RGD
PMID:16843266
RGD:11531113
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Mdga1
MAM domain containing glycosylphosphatidylinositol anchor 1
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia
ClinVar
NCBI chr20:7,900,327...7,964,309
Ensembl chr20:7,904,358...7,963,471
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Mrtfa
myocardin related transcription factor A
ISO
RGD
PMID:11431691
RGD:1599948
NCBI chr 7:112,544,305...112,714,418
Ensembl chr 7:112,544,312...112,714,418
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Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia
ClinVar
NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Pcf11
PCF11 cleavage and polyadenylation factor subunit
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia
ClinVar
NCBI chr 1:146,694,045...146,724,030
Ensembl chr 1:146,697,646...146,724,124
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Pramex1
PRAME like, X-linked 1
ISO
associated with Down Syndrome;mRNA:increased expression:mononuclear cell (human)
RGD
PMID:15180862
RGD:11535064
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia
ClinVar
PMID:9735393 PMID:10848731 PMID:10866302 PMID:16773562 PMID:17941496 PMID:20600018 PMID:21194675 PMID:21343951 PMID:21659347 PMID:22281088 PMID:22520842 PMID:23335809 PMID:23475934 PMID:23886400 PMID:24778394 PMID:25669429 PMID:25741868 PMID:26376867 PMID:28492532 PMID:29663862 PMID:35227301 More...
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Rasal3
RAS protein activator like 3
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia
ClinVar
NCBI chr 7:11,396,554...11,411,347
Ensembl chr 7:11,396,090...11,411,465
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Runx1
RUNX family transcription factor 1
onset
ISO
RGD
PMID:15856017
RGD:11251701
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Slc9a2
solute carrier family 9 member A2
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia
ClinVar
NCBI chr 9:42,932,001...43,014,447
Ensembl chr 9:42,931,346...43,014,444
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Sncb
synuclein, beta
ISO
RGD
PMID:21264917
RGD:6478703
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Acute megakaryocytic leukemia
ClinVar
PMID:11370630 PMID:20522432 PMID:25741868 PMID:28492532 PMID:33300245
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399634
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8282816
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Mllt10
MLLT10, histone lysine methyltransferase DOT1L cofactor
ISO
RGD
PMID:7662954
RGD:1598771
NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Acute monocytic leukemia
ClinVar
PMID:25741868 PMID:28492532 PMID:29290338 PMID:33471991
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
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Abcc3
ATP binding cassette subfamily C member 3
disease_progression
ISO
RGD
PMID:26512967
RGD:11081145
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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Abcg2
ATP binding cassette subfamily G member 2
disease_progression treatment
ISO
RGD
PMID:26512967 PMID:12145683
RGD:11081145 , RGD:11099971
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
DNA:translocation: :
RGD
PMID:12161353
RGD:10450603
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Acsl6
acyl-CoA synthetase long-chain family member 6
ISO
DNA:translocation: :t(5;12)(q31;p13) (human)
RGD
PMID:10502316
RGD:1599805
NCBI chr10:38,439,914...38,501,182
Ensembl chr10:38,440,080...38,498,757
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Adcy7
adenylate cyclase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229
NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
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Agrn
agrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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Anapc2
anaphase promoting complex subunit 2
ISO
mRNA:increased expression:blood (human)
RGD
PMID:26046517
RGD:11067888
NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
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Anxa2
annexin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Anxa4
annexin A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 4:119,184,378...119,241,183
Ensembl chr 4:119,184,374...119,241,161
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Anxa5
annexin A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Anxa6
annexin A6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr10:39,101,395...39,156,483
Ensembl chr10:39,097,109...39,156,433
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Aqp9
aquaporin 9
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16968895
NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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Arid4a
AT-rich interaction domain 4A
ISS
OMIM:601626
MouseDO
NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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Asmtl
acetylserotonin O-methyltransferase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr12:16,315,335...16,318,083
Ensembl chr12:16,315,414...16,318,080
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Asxl1
ASXL transcriptional regulator 1
disease_progression
ISO ISS
DNA:mutations:exon: OMIM:601626
MouseDO RGD
PMID:20693432
RGD:11038706
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Asxl2
ASXL transcriptional regulator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27798625
NCBI chr 6:26,425,017...26,514,899
Ensembl chr 6:26,425,954...26,507,477
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Atg2b
autophagy related 2B
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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Atp1b1
ATPase Na+/K+ transporting subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
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Baalc
BAALC binder of MAP3K1 and KLF4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19822134
NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288
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Bach2
BTB domain and CNC homolog 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21441929
NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
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Bcl2
BCL2, apoptosis regulator
susceptibility severity
ISO
DNA:snp:promoter:g.-938C>A (human) CTD Direct Evidence: marker/mechanism DNA:snp:exon:c.+21A>G (rs1801018) (human) ratio with Flt3, Kit;mRNA:decreased expression:mononuclear cell (human)
CTD RGD
PMID:23906301 PMID:25957891 PMID:19520430 PMID:25216797
RGD:11526107 , RGD:11526111 , RGD:11526109
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
severity
ISO
mRNA:increased expression:peripheral blood, bone marrow, blast cell (human)
RGD
PMID:11410409
RGD:11353851
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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Bcor
BCL6 co-repressor
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
NCBI chr X:13,282,431...13,402,254
Ensembl chr X:10,687,732...10,729,613
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Bdkrb1
bradykinin receptor B1
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bdkrb2
bradykinin receptor B2
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
RGD
PMID:16105758
RGD:1580059
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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Brd4
bromodomain containing 4
ISO
RGD
PMID:21814200
RGD:9586350
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Brd7
bromodomain containing 7
susceptibility
ISO
mRNA:increased expression:bone marrow: DNA:haplotype:cds:737A>G,495C>T(human)
RGD
PMID:18772500 PMID:18772500
RGD:9586443 , RGD:9586443
NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
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Btg1
BTG anti-proliferation factor 1
disease_progression
ISO
RGD
PMID:15449376
RGD:1549463
NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
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C6h14orf132
similar to human chromosome 14 open reading frame 132
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
NCBI chr 6:124,365,466...124,398,449
G
Calr
calreticulin
ISO
mRNA:increased expression:peripheral blood (human)
RGD
PMID:26640226
RGD:11076986
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Capg
capping actin protein, gelsolin like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229
NCBI chr 4:104,594,743...104,611,856
Ensembl chr 4:104,594,753...104,611,856
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Capn2
calpain 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr13:94,150,244...94,200,969
Ensembl chr13:94,150,240...94,200,969
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Casp7
caspase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729
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Cbfb
core-binding factor subunit beta
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute myeloid leukemia
CTD ClinVar
PMID:18206229 PMID:25741868 PMID:27798625 PMID:36241386
NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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Cbl
Cbl proto-oncogene
disease_progression
ISO
associated with Myelodysplastic Syndromes;DNA:mutations:exons:
RGD
PMID:22131879
RGD:11038796
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO
protein:increased expression:plasma (human)
RGD
PMID:25382729 PMID:17822317
RGD:11528532 , RGD:11528537
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccna1
cyclin A1
ISO
protein:increased expression:leukocyte (human)
RGD
PMID:10068680
RGD:2316304
NCBI chr 2:139,231,738...139,278,066
Ensembl chr 2:139,201,074...139,243,157
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Ccnd1
cyclin D1
treatment
ISO
mRNA:increased expression:bone marrow (human) human tumor in a mouse model
RGD
PMID:22391157 PMID:21928377
RGD:11352824 , RGD:11353789
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
G
Ccnd2
cyclin D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27798625
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cd33
CD33 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12921496
NCBI chr 1:93,935,418...93,940,452
Ensembl chr 1:93,930,971...93,950,149
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Cd44
CD44 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23098472
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:mononuclear cell of bone marrow (human)
RGD
PMID:19197726 PMID:16115907
RGD:4892295 , RGD:11354960
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cd9
CD9 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
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Cdh1
cadherin 1
disease_progression
ISO
DNA:hypermethylation:promoter:
RGD
PMID:15863205
RGD:11252161
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdk6
cyclin-dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229
NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:30,646,460...30,829,634
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
DNA:deletion: :
RGD
PMID:9171997
RGD:10450601
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:deletion: : mRNA,protein:altered expression:bone marrow:
RGD
PMID:11064355 PMID:11697625
RGD:11251749 , RGD:11252080
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
ISO
mRNA,protein:altered expression:bone marrow:
RGD
PMID:11697625
RGD:11252080
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Cdkn2a_v2
cyclin-dependent kinase inhibitor 2A, variant 2
ISO
mRNA,protein:altered expression:bone marrow:
RGD
PMID:11697625
RGD:11252080
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
susceptibility treatment disease_progression
ISO
DNA:hypermethylation: : mRNA:decreased expression:granulocyte,monocyte: DNA:hypermethylation:promoter: DNA:deletion: :
RGD
PMID:25616284 PMID:9001419 PMID:14681685 PMID:27168825 PMID:15863205 PMID:11064355 More...
RGD:11251739 , RGD:11252196 , RGD:11252167 , RGD:11252164 , RGD:11252161 , RGD:11251749
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Cebpa
CCAAT/enhancer binding protein alpha
ISO ISS
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic OMIM:601626 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:11242107 PMID:12661007 PMID:12692518 PMID:14726504 PMID:15575056 PMID:15902292 PMID:18768433 PMID:18946494 PMID:18987666 PMID:19706798 PMID:19731081 PMID:19822134 PMID:19953636 PMID:21177436 PMID:23716546 PMID:23926458 PMID:24220272 PMID:24728327 PMID:25741868 PMID:26162409 PMID:26721895 PMID:27005833 PMID:27993330 PMID:28250006 PMID:28492532 PMID:29296967 PMID:30420649 PMID:31867767 PMID:32430494 PMID:33179473 PMID:33345654 PMID:36879149 PMID:37216690 PMID:37586297 More...
NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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Cebpd
CCAAT/enhancer binding protein delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17234736
NCBI chr11:84,764,670...84,765,808
Ensembl chr11:84,764,565...84,765,829
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Cfhr1
complement factor H-related 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:26317246
RGD:11341662
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Cflar
CASP8 and FADD-like apoptosis regulator
disease_progression
ISO
RGD
PMID:23167276
RGD:11341679
NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:16361549
RGD:4892644
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Chic2
cysteine-rich hydrophobic domain 2
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr14:33,157,669...33,192,015
Ensembl chr14:33,157,537...33,191,895
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Chmp5
charged multivesicular body protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17708794
NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529
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Cnr2
cannabinoid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15039279
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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Crebbp
CREB binding protein
ISO ISS
DNA:translocations:intron:IVS2 (human) OMIM:601626
MouseDO RGD
PMID:12461753
RGD:734819
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Csf1r
colony stimulating factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1390197
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Csf2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21441929 PMID:1826536
RGD:10449528
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:7528855 PMID:10673519
RGD:11039033
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Csf3r
colony stimulating factor 3 receptor
disease_progression susceptibility
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia associated with Severe Congenital Neutropenia;DNA:nonsense mutation:cds:
ClinVar RGD
PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30967555 PMID:31697825 PMID:24746896 PMID:9001427 PMID:21911095 More...
RGD:10450468 , RGD:10450487 , RGD:10450470
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Cst3
cystatin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:SNP:3'UTR:rs3087243(human)
RGD
PMID:19092854
RGD:11344911
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctnna1
catenin alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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Ctsh
cathepsin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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Ctsz
cathepsin Z
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 3:163,224,875...163,235,645
Ensembl chr 3:163,224,875...163,235,645
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Cxcr4
C-X-C motif chemokine receptor 4
treatment disease_progression
ISO
RGD
PMID:26031918 PMID:24035716
RGD:11352265 , RGD:11352273
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
disease_progression no_association
ISO
DNA:SNP: :6235T>C (human) DNA:polymorphism: :6235T>C (human) DNA:SNP: :4889A>G (human)
RGD
PMID:19456854 PMID:15996939 PMID:19456854
RGD:10769358 , RGD:11352736 , RGD:10769358
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
susceptibility
ISO
DNA:polymorphism:G15631T
RGD
PMID:19144407
RGD:6480472
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
susceptibility treatment
ISO
DNA:polymorphisms: : DNA:SNP: :(rs16947)(human)
RGD
PMID:11037802 PMID:21518482
RGD:11352820 , RGD:11352828
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19874806
NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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Ddx41
DEAD-box helicase 41
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic
ClinVar
PMID:25741868 PMID:25920683 PMID:26712909 PMID:27133828 PMID:28492532 PMID:28547672 PMID:29365323 PMID:30963592 PMID:31400013 PMID:33585199 PMID:34482403 PMID:35671390 PMID:36455200 PMID:36672294 PMID:37154083 PMID:38016923 More...
NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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Dhx15
DEAH-box helicase 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27798625 PMID:29163777
NCBI chr14:58,787,147...58,825,083
Ensembl chr14:58,787,127...58,825,088
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Dlec1
DLEC1 cilia and flagella associated protein
treatment
ISO
DNA:hypermethylation:promoter:
RGD
PMID:27168825
RGD:11252164
NCBI chr 8:118,826,429...118,873,183
Ensembl chr 8:118,826,466...118,873,655
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Dnmt1
DNA methyltransferase 1
ISO
mRNA:increased expression:CD34+ bone marrow cells
RGD
PMID:11222358
RGD:9588667
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Dnmt3a
DNA methyltransferase 3 alpha
disease_progression susceptibility treatment
ISO
mRNA:increased expression:CD34+ bone marrow cells ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.R882 (human) associated with Myelodysplastic Syndromes; DNA:mutations:cds: DNA:hypomethylation: : DNA:mutation::
ClinVar CTD OMIM RGD
PMID:21067377 PMID:22722925 PMID:23849776 PMID:24614070 PMID:24622842 PMID:24656771 PMID:25650308 PMID:25693834 PMID:25741868 PMID:26822784 PMID:26876596 PMID:27317772 PMID:27335278 PMID:27525107 PMID:27701732 PMID:27991732 PMID:28252636 PMID:28432085 PMID:28492532 PMID:28941052 PMID:29900417 PMID:30185810 PMID:30478443 PMID:31582562 PMID:31620784 PMID:31640986 PMID:31861499 PMID:31961069 PMID:31981491 PMID:32123902 PMID:32385248 PMID:32435502 PMID:32581362 PMID:34480172 PMID:34632574 PMID:34788385 PMID:36641501 PMID:11222358 PMID:24512939 PMID:21415852 PMID:26242829 PMID:25609058 PMID:22291079 More...
RGD:9588667 , RGD:11041123 , RGD:11041122 , RGD:11041121 , RGD:11041120 , RGD:9589067
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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Dnmt3b
DNA methyltransferase 3 beta
susceptibility disease_progression
ISO
mRNA:increased expression:CD34+ bone marrow cells DNA:SNP:promoter: C>T46359(human) DNA:SNPs,haplotype: :rs1569686,rs2424908, rs6087990, rs6119954(human)
RGD
PMID:11222358 PMID:16194411 PMID:24069326 PMID:23251566
RGD:9588667 , RGD:9589108 , RGD:9589103 , RGD:9589071
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Ehd3
EH-domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 6:21,640,861...21,665,601
Ensembl chr 6:21,639,290...21,665,236
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Ehmt2
euchromatic histone lysine methyltransferase 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24532712 PMID:24532712
RGD:9589168
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19458359
NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
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Enah
ENAH, actin regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26237430
NCBI chr13:93,617,747...93,738,119
Ensembl chr13:93,626,944...93,740,955
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Eno2
enolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980
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Ephx1
epoxide hydrolase 1
no_association
ISO
DNA:SNPs:exon:rs1051740, rs2234922 (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.Y113H, p.H139R (human) DNA:polymorphism
CTD RGD
PMID:29605894 PMID:22200898 PMID:11849215 PMID:20731606
RGD:11252114 , RGD:11252119 , RGD:11252115
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment no_association
ISO
DNA:polymorphism: :p.R399Q (human) DNA:SNP: :p.Q504K (human)
RGD
PMID:18604718 PMID:23397959 PMID:16507781 PMID:20141440 PMID:21942242
RGD:11252170 , RGD:11252193 , RGD:11252179 , RGD:11252173 , RGD:11252171
NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression no_association
ISO
DNA:polymorphism: :p.K751Q (rs13181) (human) DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) associated with Myeloproliferative Disorders;DNA:polymorphism: :p.K751Q (rs13181) (human)
RGD
PMID:20141440 PMID:21394217 PMID:22496165 PMID:23397959
RGD:11252173 , RGD:11252209 , RGD:11252198 , RGD:11252193
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Erg
ETS transcription factor ERG
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19822134
NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
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Etv6
ETS variant transcription factor 6
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: ETV6-related condition CTD Direct Evidence: marker/mechanism DNA:translocation: : DNA:deletion: : DNA:translocation: :t(5;12)(q31;p13) (human)
OMIM ClinVar CTD RGD
PMID:9694803 PMID:15806161 PMID:18305557 PMID:21680795 PMID:21714648 PMID:24904105 PMID:24997145 PMID:25581430 PMID:25741868 PMID:25807284 PMID:26102509 PMID:26522332 PMID:27365488 PMID:27666367 PMID:27895058 PMID:28492532 PMID:29365323 PMID:31064749 PMID:31248877 PMID:31704777 PMID:32693409 PMID:33226740 PMID:33533142 PMID:33768492 PMID:12161353 PMID:9171997 PMID:10502316 More...
RGD:10450603 , RGD:10450601 , RGD:1599805
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression susceptibility
ISO
mRNA:increased expression:bone marrow, mononuclear cell (human) DNA:mutations:cds:multiple (human)
RGD
PMID:22677129 PMID:21125401 PMID:23099237
RGD:10450874 , RGD:10450887 , RGD:10450876
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:2617479
RGD:11340207
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fadd
Fas associated via death domain
disease_progression
ISO
RGD
PMID:15520222
RGD:11341799
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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Fanca
FA complementation group A
ISO
DNA, mRNA:deletions, decreased expression: :multiple
RGD
PMID:14749703
RGD:11344889
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fancc
FA complementation group C
susceptibility
ISO
DNA:polymorphism:cds:p.S26F (human)
RGD
PMID:12670332
RGD:11046259
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
PMID:17436244 PMID:23613520 PMID:25741868 PMID:28492532
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphism, haplotype:promoter:-1377 G>A, -670 G>A (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7579353 PMID:12907599 PMID:8870373
RGD:11049150 , RGD:11049452
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Fermt2
FERM domain containing kindlin 2
disease_progression
ISO
RGD
PMID:22391155
RGD:11352307
NCBI chr15:21,162,603...21,257,995
Ensembl chr15:18,682,927...18,751,811
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Fermt3
FERM domain containing kindlin 3
disease_progression
ISO
RGD
PMID:22391155
RGD:11352307
NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
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Fgfr1
Fibroblast growth factor receptor 1
treatment
ISO
RGD
PMID:27005999 PMID:23777766 PMID:22683780
RGD:11352310 , RGD:11352670 , RGD:11352665
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fhl2
four and a half LIM domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 9:52,881,091...52,954,540
Ensembl chr 9:45,388,981...45,431,192
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Flt3
Fms related receptor tyrosine kinase 3
treatment disease_progression
ISO ISS
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, reduced survival in, somatic OMIM:601626 CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.D835Y,D835H(human) DNA:mutations:cds: DNA:duplication mutation:cds: mRNA,protein:increased expression:bone marrow:
ClinVar MouseDO CTD OMIM RGD
PMID:11091200 PMID:11290608 PMID:11442493 PMID:12384447 PMID:14670924 PMID:17050201 PMID:17184839 PMID:17387224 PMID:17942876 PMID:19602710 PMID:19822134 PMID:21441929 PMID:21482694 PMID:21928377 PMID:22409268 PMID:23036488 PMID:23906301 PMID:24526162 PMID:25053825 PMID:25741868 PMID:27099147 PMID:27992414 PMID:11290608 PMID:11442493 PMID:23969938 PMID:24184354 PMID:16642044 PMID:8562934 More...
RGD:1598955 , RGD:11049497 , RGD:11049482 , RGD:11049471 , RGD:11049467 , RGD:11049466
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Foxo1
forkhead box O1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790
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Fxyd6
FXYD domain-containing ion transport regulator 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
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Gas2l1
growth arrest-specific 2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr14:79,955,350...79,961,830
Ensembl chr14:79,950,555...79,961,438
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Gata1
GATA binding protein 1
disease_progression
ISO
RGD
PMID:7579412
RGD:10450754
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Gata2
GATA binding protein 2
disease_progression susceptibility
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to CTD Direct Evidence: marker/mechanism mRNA:decreased expression:CD34+ bone marrow cell:
OMIM ClinVar CTD RGD
PMID:4508672 PMID:8701948 PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21892158 PMID:21892162 PMID:22147895 PMID:22271902 PMID:22533337 PMID:23223431 PMID:23365458 PMID:23502222 PMID:24033149 PMID:24077845 PMID:24227816 PMID:24266605 PMID:24345756 PMID:24728327 PMID:25239263 PMID:25359990 PMID:25676417 PMID:25741868 PMID:25879889 PMID:26264606 PMID:26492932 PMID:26702063 PMID:26710799 PMID:26748574 PMID:26812071 PMID:27266944 PMID:27288520 PMID:27418648 PMID:27577878 PMID:28104920 PMID:28440875 PMID:28492532 PMID:28747912 PMID:28947108 PMID:29146883 PMID:29365323 PMID:29588856 PMID:29724903 PMID:29882021 PMID:29906362 PMID:30101490 PMID:30578959 PMID:30894283 PMID:31035956 PMID:31106410 PMID:31256854 PMID:31309983 PMID:31340620 PMID:31350183 PMID:31753093 PMID:31911633 PMID:31958074 PMID:32098966 PMID:32135276 PMID:32960960 PMID:33363905 PMID:33417088 PMID:33510405 PMID:34051752 PMID:34529785 PMID:34619682 PMID:34670919 PMID:35753512 PMID:25241285 PMID:22786876 PMID:24514424 More...
RGD:11049510 , RGD:11049515 , RGD:11049514
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Gfi1
growth factor independent 1 transcriptional repressor
susceptibility
ISO
DNA:SNP:cds:c.107G>A(rs34631763)(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17330099 PMID:20075157
RGD:11040450
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:bone marrow cell:
RGD
PMID:17156408
RGD:11040507
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Gpatch1
G patch domain containing 1
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
PMID:28492532
NCBI chr 1:87,925,606...87,974,544
Ensembl chr 1:87,925,618...87,974,544
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Gpi
glucose-6-phosphate isomerase
ISO
protein:increased expression:plasma:
RGD
PMID:6589021
RGD:11051848
NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
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Gpx1
glutathione peroxidase 1
disease_progression treatment susceptibility
ISO
DNA:SNP: :c.599C>T (rs1050450) (human) DNA:polymorphism: :p.P198L (human)
RGD
PMID:26950655 PMID:22930375 PMID:26823947
RGD:11061784 , RGD:11352817 , RGD:11061561
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gskip
GSK3B interacting protein
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
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Gsr
glutathione-disulfide reductase
ISO
RGD
PMID:24191316
RGD:11059506
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Gstm1
glutathione S-transferase mu 1
susceptibility disease_progression
ISO
DNA:methylation: : DNA:deletion: : (human)
RGD
PMID:11488937 PMID:22924777 PMID:18035413
RGD:10450822 , RGD:10755405 , RGD:10755318
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
chemotherapy-induced; DNA:polymorphism:cds:p.I105V(human)
RGD
PMID:11553769 PMID:11906705 PMID:21729529
RGD:10755420 , RGD:10755328 , RGD:10755422
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
no_association disease_progression susceptibility
ISO
RGD
PMID:9164324 PMID:18035413 PMID:11488937
RGD:10450779 , RGD:10755318 , RGD:10450822
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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Gtf2i
general transcription factor II I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229
NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243
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H1f0
H1.0 linker histone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 7:112,473,280...112,475,140
Ensembl chr 7:110,592,208...110,594,694
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H1f2
H1.2 linker histone, cluster member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr17:41,391,106...41,392,597
Ensembl chr17:41,388,477...41,392,635
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22683780
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hmox1
heme oxygenase 1
IEP
mRNA:increased expression:brain, spleen
RGD
PMID:19268504
RGD:10755700
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hoxa9
homeobox A9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22541086
NCBI chr 4:82,653,847...82,659,958
Ensembl chr 4:81,323,382...81,326,358
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Id2
inhibitor of DNA binding 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 6:47,469,162...47,470,995
Ensembl chr 6:41,728,946...41,744,400
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
disease_progression
ISO
DNA:mutation:cds:p.R132(human) ClinVar Annotator: match by term: Acute myeloid leukemia CTD Direct Evidence: marker/mechanism DNA:SNP::105C>T (rs11554137)(human)
ClinVar CTD RGD
PMID:25324972 PMID:25741868 PMID:27992414 PMID:27993330 PMID:29950729 PMID:30231226 PMID:20368543 PMID:25324972 More...
RGD:11522718 , RGD:11522721
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
disease_progression
ISO
DNA:mutation:cds:p.R172(human) ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.R140 (human)
ClinVar CTD RGD
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21250968 PMID:21596855 PMID:21889589 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24606448 PMID:25157968 PMID:25324972 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27992414 PMID:28492532 PMID:20368543 PMID:25324972 More...
RGD:11522718 , RGD:11522721
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ifi30
IFI30, lysosomal thiol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr16:18,675,590...18,679,655
Ensembl chr16:18,675,613...18,681,175
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Il10
interleukin 10
disease_progression
ISO
RGD
PMID:23357299
RGD:11046264
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1a
interleukin 1 alpha
treatment
ISO
RGD
PMID:2460157
RGD:11051965
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il4r
interleukin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11918534
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
disease_progression treatment
ISO
human protein in a rat model
RGD
PMID:23357299 PMID:8892684
RGD:11046264 , RGD:11062010
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Inpp4b
inositol polyphosphate-4-phosphatase type II B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29415082
NCBI chr19:42,824,710...43,575,039
Ensembl chr19:25,925,358...26,280,634
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Itgav
integrin subunit alpha V
treatment
ISO
RGD
PMID:23770013
RGD:10755448
NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639
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Itgb3
integrin subunit beta 3
treatment
ISO
RGD
PMID:23770013 PMID:23770013
RGD:10755448 , RGD:10755448
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Jak2
Janus kinase 2
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kat6a
lysine acetyltransferase 6A
ISO
human gene in a mouse model;DNA:translocation:exon
RGD
PMID:12676584
RGD:9590334
NCBI chr16:75,787,411...75,868,584
Ensembl chr16:69,084,914...69,163,606
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7513208 PMID:8589724 PMID:9657776 PMID:16605139 PMID:16873565 PMID:17976525 PMID:19865100 PMID:21640708 PMID:25741868 PMID:28492532 PMID:28724667 PMID:31350202 More...
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Klf1
KLF transcription factor 1
disease_progression
ISO
RGD
PMID:19097174
RGD:10769344
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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Kmt2a
lysine methyltransferase 2A
ameliorates treatment
ISO ISS
OMIM:601626 human cell line in a mouse model CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:10339604 PMID:26237430 PMID:8361504 PMID:26927674 PMID:33542482
RGD:1625285 , RGD:11530086 , RGD:155888491
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Kmt2b
lysine methyltransferase 2B
susceptibility
ISO
RGD
PMID:25079327
RGD:9588599
NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
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Kmt2c
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24794707
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kras
KRAS proto-oncogene, GTPase
ISO
OMIM:601626 ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:1875403 PMID:7773929 PMID:8439212 PMID:8955068 PMID:12110640 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17910045 PMID:18456719 PMID:18628094 PMID:19047918 PMID:19358724 PMID:20652921 PMID:20805368 PMID:20949522 PMID:20949621 PMID:21062266 PMID:21079152 PMID:21871821 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24033266 PMID:24629489 PMID:24703799 PMID:24803665 PMID:25326637 PMID:25623042 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:26861459 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 PMID:8955068 PMID:21283084 More...
RGD:1600469 , RGD:11060151
NCBI chr 4:178,185,418...178,218,484
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Lpar1
lysophosphatidic acid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895
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Lpp
LIM domain containing preferred translocation partner in lipoma
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: LPP-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532
NCBI chr11:75,787,326...76,426,646
Ensembl chr11:75,797,078...76,422,597
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Lrp3
LDL receptor related protein 3
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
PMID:28492532
NCBI chr 1:87,843,815...87,859,147
Ensembl chr 1:87,844,868...87,859,110
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar Annotator: match by term: Acute myeloid leukemia, adult ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Lyl1
LYL1, basic helix-loop-helix family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16094422
NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Mdm2
MDM2 proto-oncogene
disease_progression
ISO
RGD
PMID:11064355
RGD:11251749
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
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Mecom
MDS1 and EVI1 complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30472098
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:polymorphisms:cds:p.M694V,E148Q(human)
RGD
PMID:22351163
RGD:11531114
NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22683780
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mfsd11
major facilitator superfamily domain containing 11
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064
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Mir155
microRNA 155
ISO
miRNA:increased expression:blood miRNA:decreased expression:peripheral blood mononuclear cell
RGD
PMID:28989535 PMID:26923190
RGD:24922214 , RGD:25671477
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mlf1
myeloid leukemia factor 1
ISO
RGD
PMID:15659732
RGD:1600902
NCBI chr 2:151,648,492...151,681,654
Ensembl chr 2:151,648,511...151,681,652
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Mllt10
MLLT10, histone lysine methyltransferase DOT1L cofactor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute myeloid leukemia
OMIM CTD ClinVar
PMID:25741868
NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345
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Mn1
MN1 proto-oncogene, transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19822134
NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:SNPs: :677C>T, 1298A>C(human)
RGD
PMID:17156840
RGD:10449408
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66A>G(human)
RGD
PMID:18774170
RGD:11075096
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Mx1
MX dynamin like GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
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Mybl2
MYB proto-oncogene like 2
ISS
OMIM:601626
MouseDO
NCBI chr 3:172,124,765...172,153,221
Ensembl chr 3:151,705,288...151,733,708
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25956709
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Myh11
myosin heavy chain 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229 PMID:27798625
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Nat2
N-acetyltransferase 2
susceptibility no_association
ISO
DNA:polymorphisms,haplotype: : DNA:polymorphism: :
RGD
PMID:21888617 PMID:11352872
RGD:11532769 , RGD:11532773
NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520
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Ncoa2
nuclear receptor coactivator 2
ISO
human gene in a mouse model;DNA:translocation:exon
RGD
PMID:12676584
RGD:9590334
NCBI chr 5:10,618,712...10,852,776
Ensembl chr 5:5,835,706...6,067,451
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29855615
NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:79,372,119...79,407,360
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Nf1
neurofibromin 1
severity disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:deletion: :
CTD RGD
PMID:21441929 PMID:25822087 PMID:23460398 PMID:12518368
RGD:12789444 , RGD:12754447
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
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Nos3
nitric oxide synthase 3
disease_progression
ISO
DNA:polymorphgism: : 894 G>T(human)
RGD
PMID:24684492
RGD:11533640
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Npm1
nucleophosmin 1
onset disease_progression
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: NPM1-related condition CTD Direct Evidence: marker/mechanism DNA:mutation:exon:
ClinVar CTD OMIM RGD
PMID:15659725 PMID:19657110 PMID:19822134 PMID:20026798 PMID:21441929 PMID:23877794 PMID:25741868 PMID:27992414 PMID:28492532 PMID:30420649 PMID:32581362 PMID:15659725 PMID:21441929 PMID:25992555 PMID:17957027 PMID:24184354 PMID:15659732 More...
RGD:1600907 , RGD:11534990 , RGD:11070453 , RGD:11049474 , RGD:11049471 , RGD:1600902
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645 Ensembl chr X:17,739,941...17,751,645
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
DNA:SNP: :609C>T (human)
RGD
PMID:19456854
RGD:10769358
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:
ClinVar CTD RGD
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17699718 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:27992414 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:30417923 PMID:32888943 PMID:21283084 PMID:18952898 PMID:25204082 More...
RGD:11060151 , RGD:11070616 , RGD:11535045
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nsd1
nuclear receptor binding SET domain protein 1
severity
ISO
DNA:translocations:multiple (human) ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult
ClinVar RGD
PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:17565729 PMID:18414213 PMID:23190751 PMID:25741868 PMID:28492532 PMID:23630019 More...
RGD:9590149
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Ntrk3
neurotrophic receptor tyrosine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29119387
NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
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Nup214
nucleoporin 214
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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Nup98
nucleoporin 98 and 96 precursor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21441929
NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:26712908
RGD:41410789
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pde4b
phosphodiesterase 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 5:116,799,819...117,369,155
Ensembl chr 5:116,799,971...117,367,696
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Phf6
PHD finger protein 6
severity
ISO
DNA:mutations:multiple (human)
RGD
PMID:31186809
RGD:155260286
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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Picalm
phosphatidylinositol binding clathrin assembly protein
susceptibility
ISO
DNA:inversion: :inv(11)(q14q23) ClinVar Annotator: match by term: PICALM-related condition CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:24033266 PMID:25741868 PMID:12461747
RGD:1600760
NCBI chr 1:144,056,415...144,138,045
Ensembl chr 1:144,056,721...144,137,557
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Pim2
Pim-2 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19458359
NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
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Plcb1
phospholipase C beta 1
severity
ISO
mRNA:increased expression:blood (human)
RGD
PMID:20516454
RGD:11535940
NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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Pou4f1
POU class 4 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229
NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
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Pramex1
PRAME like, X-linked 1
ISO
mRNA:increased expression:bone marrow, mononuclear cell (human)
RGD
PMID:20376794
RGD:11535023
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Psip1
PC4 and SRSF1 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 5:97,847,010...97,879,280
Ensembl chr 5:97,847,015...97,879,257
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32321774
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27992414
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Pvr
PVR cell adhesion molecule
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29855615
NCBI chr 1:79,561,294...79,576,700
Ensembl chr 1:79,546,879...79,576,715
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Pxdn
peroxidasin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
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Rac2
Rac family small GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35331739
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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Rac3
Rac family small GTPase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35331739
NCBI chr10:106,002,808...106,005,243
Ensembl chr10:105,993,087...106,005,260
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Rasgrp1
RAS guanyl releasing protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21441929
NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
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Rgs2
regulator of G-protein signaling 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385
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Rhpn2
rhophilin, Rho GTPase binding protein 2
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
PMID:28492532
NCBI chr 1:87,991,143...88,051,895
Ensembl chr 1:87,991,144...88,051,902
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RT1-Bb
RT1 class II, locus Bb
ISO
RGD
PMID:20051322 PMID:17237562
RGD:11041763 , RGD:11041776
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
PMID:16199547 PMID:23453664 PMID:23959892 PMID:25607374 PMID:25741868 PMID:28492532 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Runx1
RUNX family transcription factor 1
disease_progression
ISO
DNA:translocation ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, m0 subtype | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, missense mutations, nonsense mutations: :multiple
ClinVar CTD OMIM RGD
PMID:10068652 PMID:10508512 PMID:11276260 PMID:12172547 PMID:12200707 PMID:12377125 PMID:12393679 PMID:12807882 PMID:15156185 PMID:18206229 PMID:18723428 PMID:19357396 PMID:19387465 PMID:19808697 PMID:20549580 PMID:20722699 PMID:20880108 PMID:20955399 PMID:23753029 PMID:23817177 PMID:24100448 PMID:24374719 PMID:24523240 PMID:24616160 PMID:24659740 PMID:24764152 PMID:24904105 PMID:25741868 PMID:25840971 PMID:27106701 PMID:27112265 PMID:27137476 PMID:27294619 PMID:27798625 PMID:28231333 PMID:28492532 PMID:28513614 PMID:28933735 PMID:29365323 PMID:30420649 PMID:31064749 PMID:31309983 PMID:31876204 PMID:32051554 PMID:32098966 PMID:32208489 PMID:32315381 PMID:32581362 PMID:33692461 PMID:34166225 PMID:34355501 PMID:35776903 PMID:12760263 PMID:19808697 PMID:11023523 More...
RGD:6482833 , RGD:11251704 , RGD:11251692
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Runx1t1
RUNX1 partner transcriptional co-repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229 PMID:27798625
NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592
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Runx3
RUNX family transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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S100a10
S100 calcium binding protein A10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
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S100a8
S100 calcium binding protein A8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21971985
NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
severity
ISO
human cell line in mouse model
RGD
PMID:30474474
RGD:149735523
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Septin9
septin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10339604
NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055
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Sf3b1
splicing factor 3b, subunit 1
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Sgk1
serum/glucocorticoid regulated kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 1:24,799,391...24,916,886
Ensembl chr 1:22,980,261...23,098,283
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Sh3gl1
SH3 domain containing GRB2 like 1, endophilin A2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute myeloid leukemia
OMIM CTD ClinVar
PMID:25741868
NCBI chr 9:842,285...869,753
Ensembl chr 9:842,288...869,716
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Slc7a10
solute carrier family 7 member 10
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
PMID:28492532
NCBI chr 1:87,829,084...87,845,073
Ensembl chr 1:87,829,175...87,845,071
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Socs1
suppressor of cytokine signaling 1
ISO
DNA:hypermethylation: :
RGD
PMID:12759928
RGD:150573811
NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383
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Sod2
superoxide dismutase 2
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:1596865 PMID:16769586
RGD:11035286 , RGD:11035289
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Sparc
secreted protein acidic and cysteine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spi1
Spi-1 proto-oncogene
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:601626
CTD MouseDO
PMID:26237430
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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Spry4
sprouty RTK signaling antagonist 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25822087
NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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Srsf2
serine and arginine rich splicing factor 2
severity
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar RGD
PMID:22431577
RGD:11039017
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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Srsf4
serine and arginine rich splicing factor 4
ISO
mRNA:decreased expression: (human)
RGD
PMID:22722453
RGD:11039059
NCBI chr 5:144,060,981...144,090,798
Ensembl chr 5:144,061,463...144,089,229
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Svil
supervillin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr17:57,343,910...57,539,508
Ensembl chr17:52,648,502...52,793,404
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Syngr1
synaptogyrin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 7:111,635,911...111,659,341
Ensembl chr 7:111,635,918...111,659,341
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Tcea2
transcription elongation factor A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr 3:168,796,244...168,804,125
Ensembl chr 3:168,796,331...168,804,116
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Tcl1a
Tcl1 family Akt coactivator A
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Tcn2
transcobalamin 2
ISO
protein:increased expression::
RGD
PMID:1059479
RGD:11060122
NCBI chr14:83,036,935...83,052,187
Ensembl chr14:78,813,343...78,828,489
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Tert
telomerase reverse transcriptase
disease_progression
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to
OMIM ClinVar CTD RGD
PMID:15814878 PMID:16332973 PMID:17460043 PMID:18042801 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20301779 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21520173 PMID:21635204 PMID:21931702 PMID:22476886 PMID:22853774 PMID:23538340 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25346280 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26365799 PMID:26580448 PMID:26859482 PMID:28154186 PMID:28192371 PMID:28492532 PMID:28813500 PMID:28873162 PMID:29036293 PMID:29483670 PMID:30523342 PMID:30791107 PMID:32315675 PMID:33850299 PMID:34019641 PMID:34482403 PMID:34565437 PMID:35776903 PMID:37096215 PMID:37944684 PMID:23826993 More...
RGD:11038655
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
disease_progression
ISO
DNA:deletions
RGD
PMID:23389918 PMID:25200248
RGD:11038681 , RGD:11038682
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tfpi2
tissue factor pathway inhibitor 2
ISO
DNA:hypermethylation:promoter:
RGD
PMID:22052167
RGD:11060127
NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600
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Tfr2
transferrin receptor 2
disease_progression
ISO
RGD
PMID:15015967
RGD:11062090
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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Tgm6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
PMID:21106500 PMID:23206699 PMID:24755948 PMID:25253745 PMID:26467025 PMID:28492532 PMID:28934387 PMID:30229425 PMID:30670339 PMID:31920494 PMID:32259886 PMID:32426513 More...
NCBI chr 3:137,771,368...137,809,000
Ensembl chr 3:117,321,489...117,354,734
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Tmem127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia, adult
ClinVar
PMID:20923864 PMID:25741868 PMID:28492532
NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519
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Tnfsf10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12780785
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727 PMID:10512160 PMID:11918534
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tnfsf9
TNF superfamily member 9
ISO
protein:increased expression:serum (human)
RGD
PMID:11564827
RGD:2317350
NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
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Tp53
tumor protein p53
disease_progression treatment
ISO
DNA:mutation: : ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: ETV6-related condition | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia CTD Direct Evidence: marker/mechanism DNA:mutations: :
ClinVar CTD RGD
PMID:253702 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:7651740 PMID:7732013 PMID:7887414 PMID:7969167 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8242752 PMID:8308926 PMID:8336941 PMID:8344492 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8649776 PMID:8816796 PMID:8829653 PMID:9047394 PMID:9049183 PMID:9049184 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9482117 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9704930 PMID:9825943 PMID:9891044 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11370630 PMID:11403041 PMID:11429705 PMID:11479205 PMID:11494139 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11900253 PMID:11904319 PMID:11920959 PMID:12124823 PMID:12509279 PMID:12567188 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15221755 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16209708 PMID:16258005 PMID:16288208 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16778209 PMID:16818505 PMID:16861262 PMID:16964264 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:19101993 PMID:19147582 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19521721 PMID:19556618 PMID:19681600 PMID:19759556 PMID:19834951 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20017945 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21619694 PMID:21672450 PMID:21761402 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22265402 PMID:22427690 PMID:22484423 PMID:22540896 PMID:22553421 PMID:22666503 PMID:22703879 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22862161 PMID:22869713 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:22989750 PMID:22999923 PMID:23028800 PMID:23161690 PMID:23172776 PMID:23196062 PMID:23246812 PMID:23264849 PMID:23265383 PMID:23334668 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23887774 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25294809 PMID:25326637 PMID:25339994 PMID:25404506 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25822087 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26066407 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26554828 PMID:26585234 PMID:26619011 PMID:26659639 PMID:26681312 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27022024 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27533082 PMID:27557517 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28154273 PMID:28176830 PMID:28271309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28573494 PMID:28724667 PMID:28772286 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30128536 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30311369 PMID:30318520 PMID:30327374 PMID:30352134 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31206626 PMID:31212162 PMID:31300551 PMID:31559875 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32187361 PMID:32295079 PMID:32457520 PMID:32658383 PMID:32817165 PMID:32906206 PMID:32980694 PMID:33138793 PMID:33208383 PMID:33245408 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33580201 PMID:33635883 PMID:33674644 PMID:33818021 PMID:33840814 PMID:34240179 PMID:34266904 PMID:34675114 PMID:34793666 PMID:35127508 PMID:35820297 PMID:35938033 PMID:36329109 PMID:36988593 PMID:38355628 PMID:24836762 PMID:25412846 PMID:25573287 More...
RGD:11073714 , RGD:11057925 , RGD:11075071
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Trh
thyrotropin releasing hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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Trio
trio Rho guanine nucleotide exchange factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229
NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
PMID:25741868 PMID:26580448 PMID:28492532
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Tsc2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19250671
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Tubb2a
tubulin, beta 2A class IIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
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Tunar
transmembrane neural differentiation associated intracellular calcium regulator
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
NCBI chr 6:124,245,949...124,293,440
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Tyms
thymidylate synthetase
susceptibility
ISO
DNA:repeats,insertion/deletion:5'UTR, 3'UTR:
RGD
PMID:18774170
RGD:11075096
NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536
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Vegfa
vascular endothelial growth factor A
disease_progression
ISO
DNA:SNP,haplotype: :(rs3025039),(rs699947),(rs833061)(human)
RGD
PMID:17983459
RGD:13432134
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vopp1
VOPP1 WW domain binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229
NCBI chr 4:87,363,678...87,432,747
Ensembl chr 4:87,363,477...87,450,375
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Vsig4
V-set and immunoglobulin domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206229
NCBI chr X:61,144,926...61,170,212
Ensembl chr X:61,144,928...61,170,212
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Wdr88
WD repeat domain 88
ISO
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
PMID:28492532
NCBI chr 1:87,884,316...87,924,719
Ensembl chr 1:87,884,323...87,924,695
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute myeloid leukemia
CTD ClinVar
PMID:19822134 PMID:25145932 PMID:25741868 PMID:27992414
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Zbtb7a
zinc finger and BTB domain containing 7a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27798625
NCBI chr 7:8,561,015...8,578,243
Ensembl chr 7:8,563,779...8,576,539
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Zcchc8
zinc finger CCHC-type containing 8
ISO
ClinVar Annotator: match by term: Inherited acute myeloid leukemia
ClinVar
PMID:25741868
NCBI chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325
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Zfp91
zinc finger protein 91
IDA
RGD
PMID:12738986
RGD:727221
NCBI chr 1:219,316,002...219,353,654
Ensembl chr 1:209,891,344...209,927,762
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Zrsr2
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
ISO
DNA:missense mutations:multiple (human) associated with aging
RGD
PMID:25550361 PMID:32027246
RGD:151232299 , RGD:151347178
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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Arhgap26
Rho GTPase activating protein 26
ISO
juvenile myelomonocytic leukemia, OMIM:607785
RGD
PMID:10908648
RGD:1599311
NCBI chr18:30,835,806...31,237,945
Ensembl chr18:30,838,671...31,235,194
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Cbfb
core-binding factor subunit beta
susceptibility
ISO
DNA:inversion: ;inv(16)(p13q22) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10958941 PMID:8351518
RGD:1599543
NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
RGD
PMID:14681685
RGD:11252167
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Flt3
Fms related receptor tyrosine kinase 3
treatment
ISO
RGD
PMID:22187040
RGD:11049503
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gmps
guanine monophosphate synthase
ISO
treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes
RGD
PMID:11110714
RGD:1598998
NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
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Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8282816
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Myh11
myosin heavy chain 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10958941
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Abca1
ATP binding cassette subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12556562
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Aqp9
aquaporin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23563754
NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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Asxl1
ASXL transcriptional regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26285909
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Birc5
baculoviral IAP repeat-containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27770503
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Cd44
CD44 molecule
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16208414 PMID:17349212
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
disease_progression
ISO
DNA:hyprmethylation:promoter:
RGD
PMID:12750706
RGD:11252187
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Cebpa
CCAAT/enhancer binding protein alpha
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16788101 PMID:26285909
NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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Cebpe
CCAAT/enhancer binding protein epsilon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16788101
NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
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Dapk2
death-associated protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28978663
NCBI chr 8:66,706,536...66,825,567
Ensembl chr 8:66,706,609...66,825,567
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Defa3
defensin alpha 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16019513
NCBI chr16:70,533,436...70,535,592
Ensembl chr16:70,533,436...70,535,604
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Dhcr7
7-dehydrocholesterol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26285909
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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F3
coagulation factor III, tissue factor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16206674 PMID:10726043
RGD:11340216
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Flt3
Fms related receptor tyrosine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17454189 PMID:24160850 PMID:26285909
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Fndc3b
fibronectin type III domain containing 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28314734
NCBI chr 2:110,311,439...110,617,504
Ensembl chr 2:110,312,694...110,547,830
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Gli1
GLI family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23867347
NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251
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Gli2
GLI family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23867347
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Gphn
gephyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
RGD
PMID:21875282
RGD:10755406
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26285909
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26285909
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22617429
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il17a
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22617429
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18bp
interleukin 18 binding protein
ISO
ClinVar Annotator: match by term: Acute promyelocytic leukemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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Irf2bp2
interferon regulatory factor 2 binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25583766
NCBI chr19:54,559,417...54,565,096
Ensembl chr19:54,560,128...54,566,642
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Itgal
integrin subunit alpha L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16764927
NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732
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Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16764927
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Itgax
integrin subunit alpha X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16764927
NCBI chr 1:182,709,653...182,740,709
Ensembl chr 1:182,719,609...182,740,698
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16764927
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26285909
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Kmt2e
lysine methyltransferase 2E
severity
ISO
mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human)
RGD
PMID:24796963
RGD:9588539
NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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Lat2
linker for activation of T cells family, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32587277
NCBI chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288
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Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Ltc4s
leukotriene C4 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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Me1
malic enzyme 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr 8:96,429,057...96,540,244
Ensembl chr 8:87,549,043...87,660,304
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Mtarc2
mitochondrial amidoxime reducing component 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr13:96,362,810...96,397,284
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Myc
MYC proto-oncogene, bHLH transcription factor
onset
ISO
mRNA:increased expression:promyelocyte:
RGD
PMID:21059853 PMID:21059853
RGD:11532756 , RGD:11532756
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Ncam1
neural cell adhesion molecule 1
disease_progression
ISO
RGD
PMID:24296270
RGD:40907062
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Npm1
nucleophosmin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14508522 PMID:26285909 PMID:15659732
RGD:1600902
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645 Ensembl chr X:17,739,941...17,751,645
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26285909
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Numa1
nuclear mitotic apparatus protein 1
ISO
ClinVar Annotator: match by term: Acute promyelocytic leukemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
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Plat
plasminogen activator, tissue type
ISO
protein:increased expression:leukocyte (human)
RGD
PMID:10861807
RGD:11541060
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Pml
PML nuclear body scaffold
ISO
human PML/RARA gene fusion in a mouse model CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8616088 PMID:10742073 PMID:14706140 PMID:16788101 PMID:16835227 PMID:16891316 PMID:16935935 PMID:17294898 PMID:17649720 PMID:19029980 PMID:19035177 PMID:19884644 PMID:19887701 PMID:21345080 PMID:21613260 PMID:22213200 PMID:23208507 PMID:23734343 PMID:26285909 PMID:26728337 PMID:32882258 PMID:32929351 PMID:9122233 More...
RGD:41404695
NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:18815192
RGD:11535037
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17712046
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32417439
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rap1gap
Rap1 GTPase-activating protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22614916
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
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Rara
retinoic acid receptor, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM RGD
PMID:8616088 PMID:10742073 PMID:14508522 PMID:14706140 PMID:16239915 PMID:16788101 PMID:16835227 PMID:16891316 PMID:16935935 PMID:17294898 PMID:17649720 PMID:17712046 PMID:19029980 PMID:19035177 PMID:19884644 PMID:19887701 PMID:21613260 PMID:22213200 PMID:23208507 PMID:25583766 PMID:26285909 PMID:26728337 PMID:28314734 PMID:32882258 PMID:32929351 PMID:15659732 More...
RGD:1600902
NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142
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Retn
resistin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Rock1
Rho-associated coiled-coil containing protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32417439
NCBI chr18:1,114,532...1,236,345
Ensembl chr18:1,115,905...1,235,571
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Slit2
slit guidance ligand 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33120864
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23867347
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26285909
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Thbd
thrombomodulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16206674
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tmem127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Acute promyelocytic leukemia
ClinVar
PMID:25741868 PMID:28492532 PMID:32575117
NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519
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Top2a
DNA topoisomerase II alpha
ISO
ClinVar Annotator: match by term: Dna topoisomerase II, resistance to inhibition of, by amsacrine
ClinVar
PMID:1651812
NCBI chr10:84,441,954...84,473,093
Ensembl chr10:83,945,735...83,976,874
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Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26285909
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Zbtb16
zinc finger and BTB domain containing 16
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23208507 PMID:8387545
RGD:1599922
NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
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Zbtb16
zinc finger and BTB domain containing 16
ISO
ClinVar Annotator: match by term: ZBTB16-related condition
ClinVar
PMID:28492532
NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
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Birc5
baculoviral IAP repeat-containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16497974
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18688853
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr12:18,735,088...18,872,045
Ensembl chr12:13,621,087...13,758,112
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Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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Ccr7
C-C motif chemokine receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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Cd163
CD163 molecule
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd274
CD274 molecule
disease_progression
ISO
RGD
PMID:27418641
RGD:41412177
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cd68
Cd68 molecule
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cd80
Cd80 molecule
IMP
RGD
PMID:10590132
RGD:6902938
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Cd86
CD86 molecule
IMP
RGD
PMID:10590132
RGD:6902938
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Csnk1a1
casein kinase 1, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr18:55,017,049...55,050,184
Ensembl chr18:55,017,055...55,049,271
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Csnk2a1
casein kinase 2 alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
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Csnk2b
casein kinase 2 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphism:promoter: -670 G>A(human) protein:increased expression:peripheral blood mononuclear cell:
RGD
PMID:17962369 PMID:7513372
RGD:11049147 , RGD:11049453
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Foxp3
forkhead box P3
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:23797717
RGD:38456007
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr20:44,322,635...44,514,498
Ensembl chr20:42,766,369...42,959,911
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gpr183
G protein-coupled receptor 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559
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Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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Icos
inducible T-cell co-stimulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20370541
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:8800741
RGD:10755707
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ikzf2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:71,046,038...71,191,296
Ensembl chr 9:71,042,440...71,190,867
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:8704212
RGD:11049460
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il5
interleukin 5
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:16425276
RGD:11354942
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Il6
interleukin 6
ISO
protein:increased expression:serum (human)
RGD
PMID:10374863
RGD:11060275
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Jak3
Janus kinase 3
ISO
DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human)
RGD
PMID:21821710
RGD:11531131
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Myb
MYB proto-oncogene, transcription factor
disease_progression
ISO
mRNA:splice variants:CD4+ T cell:
RGD
PMID:27307595
RGD:11532670
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Notch1
notch receptor 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:16707600
RGD:1580759
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:21586752
RGD:11535055
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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Prkcb
protein kinase C, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 1:186,263,397...186,594,743
Ensembl chr 1:176,832,226...177,163,536
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24090995
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Tal2
TAL bHLH transcription factor 2
ISO
RGD
PMID:1763056
RGD:1599285
NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569
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Terf2
telomeric repeat binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17643074
NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819
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Tlx1
T-cell leukemia, homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1717256 PMID:1683261
RGD:1599439
NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53
tumor protein p53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tp73
tumor protein p73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Vav1
vav guanine nucleotide exchange factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3239563 PMID:9326931 PMID:10398237 PMID:10632111 PMID:10995512 PMID:12858175 PMID:15508018 PMID:15591283 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21505078 PMID:22129561 PMID:23681356 PMID:24327140 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25590979 PMID:25741868 PMID:26350204 PMID:28492532 PMID:31130284 PMID:33057194 PMID:35982159 More...
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Adh5
alcohol dehydrogenase 5 (class III), chi polypeptide
ISO
ClinVar Annotator: match by term: AMED syndrome, digenic
OMIM ClinVar
PMID:25741868 PMID:33355142
NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC
ClinVar
PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:15902904 PMID:16046871 PMID:16440063 PMID:16679777 PMID:17885622 PMID:18056758 PMID:20010786 PMID:22992668 PMID:33355142 More...
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Alk
ALK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 PMID:22968692 PMID:15659732 More...
RGD:1600902
NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:22,880,625...23,598,034
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Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17157164
NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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Irf4
interferon regulatory factor 4
ISO
DNA:translocation
RGD
PMID:18987657
RGD:11526155
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035
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Npm1
nucleophosmin 1
ISO
RGD
PMID:15659732
RGD:1600902
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645 Ensembl chr X:17,739,941...17,751,645
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17261581
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22155737
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10908157 PMID:17261581
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Twist1
twist family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22155737
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Angioimmunoblastic T-cell lymphoma
ClinVar
PMID:19797729 PMID:27210295 PMID:27276561 PMID:28337768 PMID:28492532 PMID:32518946 PMID:36066697 More...
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Asxl1
ASXL transcriptional regulator 1
ISO
ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative
ClinVar
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:15050920
RGD:11352668
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Mfsd11
major facilitator superfamily domain containing 11
ISO
ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative
ClinVar
NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064
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Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative
ClinVar
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Setbp1
SET binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23222956
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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Srsf2
serine and arginine rich splicing factor 2
ISO
ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative
ClinVar
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Atypical chronic myeloid leukemia | ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative
ClinVar
PMID:22905207 PMID:28492532
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 4 | ClinVar Annotator: match by term: HSPA9-related condition
OMIM ClinVar
PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 PMID:26598328 PMID:28492532 More...
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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Glrx5
glutaredoxin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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Slc25a38
solute carrier family 25, member 38
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive
OMIM CTD ClinVar
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 PMID:25741868 PMID:25985931 PMID:26636621 PMID:28492532 PMID:28772256 PMID:29499877 PMID:29786897 PMID:30214775 PMID:30735661 PMID:31338833 PMID:31642437 PMID:32605921 PMID:32790119 PMID:33256393 PMID:34298585 More...
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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Glrx5
glutaredoxin 5
ISO
ClinVar Annotator: match by term: Sideroblastic anemia 3
OMIM ClinVar
PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 PMID:30660387 More...
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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Arsa
arylsulfatase A
ISO
ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia
ClinVar
PMID:25741868
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia
ClinVar
PMID:9580660 PMID:23623386 PMID:25741868 PMID:28492532
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369 Ensembl chr10:2,419,038...2,448,369
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia
ClinVar
PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Abcg2
ATP binding cassette subfamily G member 2
susceptibility
ISO
DNA:SNPs,haplotype: :rs1481012,rs2231142(human)
RGD
PMID:21918980
RGD:11080977
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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Acoxl
acyl-CoA oxidase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 3:115,061,069...115,367,032
Ensembl chr 3:115,061,060...115,364,686
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Aicda
activation-induced cytidine deaminase
disease_progression
ISO
RGD
PMID:21133730
RGD:11039455
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Apoe
apolipoprotein E
disease_progression
ISO
RGD
PMID:18784741
RGD:11040549
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17968022
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Bcl11a
BCL11 transcription factor A
ISO
DNA:translocation:5' utr: (human)
RGD
PMID:11719382
RGD:11100004
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Bcl2
BCL2, apoptosis regulator
treatment severity no_association
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:B cell (human) DNA:snp:promoter:g.-938C>A (human)
CTD RGD
PMID:21750559 PMID:23770605 PMID:17296974 PMID:20001236 PMID:17959858 PMID:16960146 More...
RGD:11522735 , RGD:11526110 , RGD:11526105 , RGD:11526104
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bmf
Bcl2 modifying factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145
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Btk
Bruton tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853
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Cbl
Cbl proto-oncogene
severity
ISO
mRNA,protein:increased expression:CD5+ B cell: DNA:hypophosphorylation:CD5+ B cell:
RGD
PMID:17804547 PMID:17804547
RGD:11038803 , RGD:11038803
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
mouse-human chimeric gene in human
RGD
PMID:20882050
RGD:11352235
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd5
Cd5 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313
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Cd79b
CD79b molecule
ISO
protein:decreased expression:B lymphocyte, cell surface (human) DNA:polymorphism:multiple (human) mRNA, protein:splice variants, alternative forms:exon 3 (human)
RGD
PMID:9269755 PMID:10552962 PMID:10090943
RGD:11250403 , RGD:151665202 , RGD:151665190
NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25179679
RGD:11354969
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
protein:increased expression:T cell
RGD
PMID:16094420 PMID:15914560
RGD:11344923 , RGD:11352246
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Dkc1
dyskerin pseudouridine synthase 1
ISO
RGD
PMID:18077792
RGD:11251735
NCBI chr X:157,751,651...157,757,796
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Dnmt3b
DNA methyltransferase 3 beta
ISO
mRNA:decreased expression: B cell
RGD
PMID:15467427
RGD:9589146
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
severity
ISO
DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:22739018 PMID:19484764
RGD:11252203 , RGD:11252204
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Farp2
FERM, ARH/RhoGEF and pleckstrin domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212
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Fas
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:12901972
RGD:11049461
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Fcgr3a
Fc gamma receptor 3A
no_association
ISO
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:14563637
RGD:11352260
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gnas
GNAS complex locus
disease_progression
ISO
DNA:polymorphism:393T>C (human)
RGD
PMID:17020971
RGD:1601379
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Icam1
intercellular adhesion molecule 1
severity
ISO
RGD
PMID:7658704
RGD:11354983
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
susceptibility
ISO
DNA:polymorphism: :847A>T(human)
RGD
PMID:19757192
RGD:10755703
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
disease_progression no_association
ISO
protein:increased expression:serum DNA:SNPs: :multiple DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
RGD
PMID:22945689 PMID:10638947 PMID:19573080 PMID:19573080
RGD:11041895 , RGD:11049174 , RGD:11049165 , RGD:11049165
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:19074885
RGD:11051968
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
severity
ISO
DNA:SNP:promoter:-511C>T (human) protein:decreased expression:plasma:
RGD
PMID:18271063 PMID:10870116
RGD:11051967 , RGD:11522755
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:decreased expression:plasma:
RGD
PMID:10870116
RGD:11522755
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
ISO
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18006695 PMID:10870116
RGD:11522755
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf4
interferon regulatory factor 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18758461 PMID:12393648 PMID:12079517
RGD:11526160 , RGD:11530024
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Itga4
integrin subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21093051
NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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Lef1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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Mir143
microRNA 143
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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Mir145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Ms4a1
membrane spanning 4-domains A1
ISO
RGD
PMID:19911856
RGD:2316994
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16706930
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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P2rx7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11003599
NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
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Pecam1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:B cell (human)
RGD
PMID:12673718
RGD:11541127
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Plcg2
phospholipase C, gamma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27542411
NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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Pmaip1
phorbol-12-myristate-13-acetate-induced protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr18:59,986,020...59,992,434
Ensembl chr18:59,986,017...59,992,429
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Polb
DNA polymerase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
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Ppp2r5c
protein phosphatase 2, regulatory subunit B', gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
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Pramex1
PRAME like, X-linked 1
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prkd2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16314473
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Qpct
glutaminyl-peptide cyclotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 6:21,716,824...21,748,895
Ensembl chr 6:15,964,657...15,996,711
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Rbl2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572
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Sf3b1
splicing factor 3b, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158541
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Sp140
SP140 nuclear body protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17344921
RGD:11038662
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Thbd
thrombomodulin
ISO
RGD
PMID:21812019
RGD:5685033
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:increased expression:bone marrow, blood, lymphocyte
RGD
PMID:12010662 PMID:22945689
RGD:10449463 , RGD:11041895
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b
TNF receptor superfamily member 10b
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP: :1322A>G (human)
RGD
PMID:16217763 PMID:15531454
RGD:11038717 , RGD:11038718
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf11a
TNF receptor superfamily member 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
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Tnfsf13
TNF superfamily member 13
ISO
protein:increased expression:serum
RGD
PMID:15488762
RGD:1549466
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Topbp1
DNA topoisomerase II binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
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Tp53
tumor protein p53
disease_progression
ISO
DNA:deletion: : ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 PMID:10922393 PMID:11139324 PMID:11782540 PMID:12826609 PMID:15037740 PMID:16439677 PMID:16818505 PMID:17015838 PMID:17606709 PMID:18307025 PMID:19101993 PMID:20028212 PMID:20128691 PMID:20407015 PMID:20593220 PMID:20805372 PMID:21118481 PMID:21343334 PMID:21356188 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23246812 PMID:23484829 PMID:23630318 PMID:24065105 PMID:24573247 PMID:24702488 PMID:25256166 PMID:25404506 PMID:25741868 PMID:25765855 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27714481 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:33300245 PMID:36988593 PMID:10867151 More...
RGD:11075074
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Vdr
vitamin D receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12446453
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
G
Xrcc1
X-ray repair cross complementing 1
severity no_association
ISO
DNA:SNP: :p.R399Q (rs25487) (human) DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
RGD
PMID:19484764 PMID:19484764
RGD:11252204 , RGD:11252204
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Abcg2
ATP binding cassette subfamily G member 2
susceptibility
ISO
DNA:SNP: :rs6857600(human)
RGD
PMID:21918980
RGD:11080977
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
G
Aicda
activation-induced cytidine deaminase
ISO
RGD
PMID:17251349
RGD:11039449
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Bcl2l2
Bcl2-like 2
disease_progression
ISO
RGD
PMID:28094768
RGD:14394511
NCBI chr15:32,326,686...32,337,834
Ensembl chr15:28,356,807...28,361,624
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Bcl6
BCL6, transcription repressor
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949
RGD:1600111
NCBI chr11:90,358,753...90,382,049
Ensembl chr11:76,854,090...76,877,389
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Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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Btk
Bruton tyrosine kinase
treatment
ISO
human cell in a mouse model
RGD
PMID:25662332 PMID:28348046
RGD:11040764 , RGD:124713554
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853
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Cbx7
chromobox 7
ISO
RGD
PMID:17374722
RGD:11352707
NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:111,460,656...111,477,973
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Csf2
colony stimulating factor 2
treatment
ISO
RGD
PMID:8469286
RGD:10450244
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11042651
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Eaf2
ELL associated factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20564326
NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
severity treatment
ISO ISS
MouseDO RGD
PMID:23982173 PMID:29456795
RGD:10755356 , RGD:126781726
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Il21r
interleukin 21 receptor
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949
RGD:1600111
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522
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Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24837469
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kat5
lysine acetyltransferase 5
severity
ISO
RGD
PMID:17728759
RGD:9588481
NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:202,895,751...202,903,458
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Lgals1
galectin 1
IEP
protein:increased expression:primary tumor (rat)
RGD
PMID:16733672
RGD:2316550
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
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Mir143
microRNA 143
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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Mir145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14633661
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14654083
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531327
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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Stat5a
signal transducer and activator of transcription 5A
ISO
RGD
PMID:27018255
RGD:151665817
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tnfsf9
TNF superfamily member 9
ISO
RGD
PMID:10202049
RGD:2317349
NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:21481795
RGD:11038814
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
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Akr1c3
aldo-keto reductase family 1, member C3
treatment
ISO
RGD
PMID:26116659
RGD:11541128
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Atf7ip
activating transcription factor 7 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650
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Bcl2l1
Bcl2-like 1
severity
ISO
RGD
PMID:18216295
RGD:11531108
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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Bcr
BCR activator of RhoGEF and GTPase
ISO
BCR/ABL fusion
RGD
PMID:9310467
RGD:41404633
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24154679
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:B cell (mouse)
RGD
PMID:23169640
RGD:11353783
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
treatment susceptibility
ISO
DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human)
RGD
PMID:16618932 PMID:26104880 PMID:21622646
RGD:11251751 , RGD:11057958 , RGD:11251772
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v2
cyclin-dependent kinase inhibitor 2A, variant 2
treatment
ISO
RGD
PMID:21622646 PMID:16618932
RGD:11251772 , RGD:11251751
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Crlf2
cytokine receptor-like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
treatment
ISO
DNA:polymorphisms: :
RGD
PMID:21225912
RGD:11353807
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Dux4
double homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27019113
NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565
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Etv6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15217836 PMID:24413735 PMID:25807284
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
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F13a1
coagulation factor XIII A1 chain
ISO
protein:increased expression:B lymphoblast:
RGD
PMID:16894461
RGD:11041855
NCBI chr17:28,021,197...28,197,960
Ensembl chr17:27,815,702...27,992,700
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F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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Flt3
Fms related receptor tyrosine kinase 3
ISO
mRNA,protein:increased expression:bone marrow:
RGD
PMID:8562934
RGD:11049466
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ikzf1
IKAROS family zinc finger 1
disease_progression
ISO
DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24141364 PMID:22699455
RGD:11075072
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Il5
interleukin 5
ISO
RGD
PMID:15368290
RGD:7241068
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Irf4
interferon regulatory factor 4
ISO
RGD
PMID:25006123 PMID:20585039 PMID:21818355
RGD:11526159 , RGD:11530030 , RGD:11530020
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Irf8
interferon regulatory factor 8
ISO
RGD
PMID:20585039
RGD:11530030
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Isx
intestine-specific homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr19:13,217,637...13,239,754
Ensembl chr19:13,218,552...13,239,760
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Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Myb
MYB proto-oncogene, transcription factor
disease_progression
ISO
mRNA:splice variants:cds:
RGD
PMID:21853052
RGD:11532669
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
RGD
PMID:22120021
RGD:7207416
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Pax5
paired box 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24013638 PMID:30643249
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
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Pdgfra
platelet derived growth factor receptor alpha
treatment
ISO
RGD
PMID:22447844
RGD:11075097
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
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Runx1
RUNX family transcription factor 1
onset
ISO
DNA:amplification CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15217836 PMID:24413735 PMID:21822204
RGD:6482828
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Stat5a
signal transducer and activator of transcription 5A
ISO
protein:increased phosphorylation:bone marrow (human)
RGD
PMID:27018255
RGD:151665817
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tdo2
tryptophan 2,3-dioxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Tnfsf13
TNF superfamily member 13
ISO
RGD
PMID:15488762
RGD:1549466
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53
tumor protein p53
disease_progression
ISO
DNA:mutations: :
RGD
PMID:22699455
RGD:11075072
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Mixed phenotype acute leukemia with t(v;11q23.3)
ClinVar
PMID:25741868
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1
ClinVar
PMID:22658618 PMID:25741868 PMID:28492532
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25741868 PMID:28492532 PMID:30093976 PMID:35534704 PMID:35957908
NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25085752 PMID:25741868 PMID:28492532 PMID:33471991
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 PMID:15964893 PMID:18716613 PMID:20113479 PMID:25741868 PMID:28492532 PMID:29367366 PMID:31829210 More...
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28546994 PMID:38473309
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
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Aicda
activation-induced cytidine deaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21570118
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Bcr
BCR activator of RhoGEF and GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21570118
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Esr2
estrogen receptor 2
ISO
RGD
PMID:12740446
RGD:734951
NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
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Hmox1
heme oxygenase 1
ISO
RGD
PMID:22139798
RGD:10755566
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Mir150
microRNA 150
ISO
miRNA:decreased expression:leukocytes
RGD
PMID:21501493
RGD:13782140
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
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Tcn2
transcobalamin 2
ISO
protein:increased expression::
RGD
PMID:1059479
RGD:11060122
NCBI chr14:83,036,935...83,052,187
Ensembl chr14:78,813,343...78,828,489
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Srp72
signal recognition particle 72
ISO
ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:22541560 PMID:25741868 PMID:28492532
NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20026017
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Tp53
tumor protein p53
disease_progression
ISO
RGD
PMID:24761810
RGD:11073734
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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A4galt
alpha 1,4-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11482875
NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Bbc3
Bcl-2 binding component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18573879
NCBI chr 1:86,141,450...86,150,666
Ensembl chr 1:77,014,543...77,022,509
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Bcl2l2
Bcl2-like 2
ISO
mRNA:increased expression:lymph node
RGD
PMID:28094768
RGD:14394511
NCBI chr15:32,326,686...32,337,834
Ensembl chr15:28,356,807...28,361,624
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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Burkitt lymphoma
ClinVar
PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 PMID:33471991 PMID:36881271 More...
NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304
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Btk
Bruton tyrosine kinase
ameliorates treatment
ISO
Human cell line in a mouse model mRNA:increased expression:multiple (human)
RGD
PMID:28474336 PMID:30546948
RGD:124713565 , RGD:124715474
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853
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Calr
calreticulin
treatment
ISO
human cells and recombinant protein in a mouse model human cell line and recombinant protein in a mouse model
RGD
PMID:9858521 PMID:10961892
RGD:150521687 , RGD:150521702
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Cct6b
chaperonin containing TCP1 subunit 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr10:67,652,461...67,701,385
Ensembl chr10:67,652,546...67,701,284
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Cd40
CD40 molecule
treatment
ISO
human cell line in a mouse model
RGD
PMID:9192773
RGD:11520790
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625
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Ftcd
formimidoyltransferase cyclodeaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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Gna13
G protein subunit alpha 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774
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Id3
inhibitor of DNA binding 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143595 PMID:23143597
NCBI chr 5:153,656,253...153,657,860
Ensembl chr 5:148,372,762...148,374,349
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Mir21
microRNA 21
treatment
ISO
RGD
PMID:27991481
RGD:41404643
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir23b
microRNA 23b
treatment
ISO
RGD
PMID:27991481
RGD:41404643
NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
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Mllt11
MLLT11, transcription factor 7 cofactor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31587870
NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO ISS
ClinVar Annotator: match by term: Burkitt lymphoma | ClinVar Annotator: match by term: MYC-related condition OMIM:113970 CTD Direct Evidence: marker/mechanism DNA:mutations:exons:multiple (human)
ClinVar MouseDO CTD OMIM RGD
PMID:8220424 PMID:25741868 PMID:27993330 PMID:32934698 PMID:8220424 PMID:8397370 More...
RGD:1601453 , RGD:10059619
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Pbx1
PBX homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chr13:82,811,664...83,121,447
Ensembl chr13:80,278,770...80,588,594
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Pc
pyruvate carboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Sall3
spalt-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:28552327
RGD:124715478
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853
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Cd79b
CD79b molecule
treatment
ISO
RGD
PMID:28619981
RGD:151665208
NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625
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Il10
interleukin 10
ISO
DNA:SNP:promoter:-1082G>A (human)
RGD
PMID:22628023
RGD:7364831
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Myd88
MYD88, innate immune signal transduction adaptor
treatment
ISO
RGD
PMID:28619981
RGD:151665208
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415
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Ctcf
CCCTC-binding factor
disease_progression
ISO
mRNA, protein:increased expression:bone marrow, blood (human)
RGD
PMID:24393203
RGD:151356757
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Tes
testin LIM domain protein
ISO
DNA:hypermethylation:promoter
RGD
PMID:20573277
RGD:597621675
NCBI chr 4:45,365,304...45,403,829
Ensembl chr 4:45,365,285...45,403,829
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Epor
erythropoietin receptor
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome
ClinVar
PMID:8506290 PMID:17488692 PMID:27993330
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome
ClinVar
PMID:27993330
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Ier2
immediate early response 2
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:34702297
RGD:153323323
NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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Ak3
adenylate kinase 3
ISO
protein:increased expression:peripheral blood mononuclear cell
RGD
PMID:27078856
RGD:13842476
NCBI chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625
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Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:increased expression: (human)
RGD
PMID:36595475
RGD:401901275
NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297
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Cd40lg
CD40 ligand
ISO
protein:increased expression:serum (human)
RGD
PMID:9450802
RGD:11522717
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd79b
CD79b molecule
ISO
protein:decreased expression:peripheral blood cells (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) protein:decreased expression:blood, B cell (human) protein:decreased expression:blood cells (human)
RGD
PMID:10516749 PMID:10090943 PMID:10329919 PMID:10753858
RGD:151665125 , RGD:151665190 , RGD:11531139 , RGD:151665152
NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625
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Cd86
CD86 molecule
ISO
DNA:hypermethylation (human)
RGD
PMID:23154584
RGD:11354975
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:21911837
RGD:11354912
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Irf4
interferon regulatory factor 4
disease_progression
ISO
DNA:SNPs:3' utr:multiple DNA:SNP: :rs872071 (human) DNA:missense mutation:exon:p.L116R (human)
RGD
PMID:23897826 PMID:20123861 PMID:20731705 PMID:23926303 PMID:20090783 PMID:21791429 More...
RGD:11526156 , RGD:11530031 , RGD:11530029 , RGD:11530026 , RGD:11530021 , RGD:11526158
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Mir155
microRNA 155
ISO
miRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir21
microRNA 21
ISO
miRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Myc
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:20956327
RGD:11340590
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26254371
RGD:11073982
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
susceptibility
ISO
DNA:snp:cds:p.R620W (rs2476601) (human) protein:increased expression:B cell (human)
RGD
PMID:23287625 PMID:22569400
RGD:11533998 , RGD:11535006
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 PMID:10922393 PMID:11139324 PMID:11782540 PMID:12826609 PMID:15037740 PMID:16818505 PMID:17015838 PMID:17606709 PMID:18307025 PMID:19101993 PMID:20028212 PMID:20128691 PMID:20407015 PMID:20593220 PMID:20805372 PMID:21118481 PMID:21343334 PMID:21356188 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23246812 PMID:23484829 PMID:23630318 PMID:24065105 PMID:24573247 PMID:24702488 PMID:25256166 PMID:25404506 PMID:25741868 PMID:25765855 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27714481 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:33300245 PMID:36988593 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive
ClinVar
PMID:10988075 PMID:11423618 PMID:12130516 PMID:25686603 PMID:25741868 PMID:28492532 PMID:36063163 More...
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Bcr
BCR activator of RhoGEF and GTPase
ISO
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive
ClinVar
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive
ClinVar
PMID:8439212 PMID:15696205 PMID:17332249 PMID:17704260 PMID:19047918 PMID:19349489 PMID:19358724 PMID:20949621 PMID:21044336 PMID:21169357 PMID:22683711 PMID:23096712 PMID:24033266 PMID:24138715 PMID:25741868 PMID:26242988 PMID:28492532 PMID:29298116 PMID:31891627 More...
NCBI chr 4:178,185,418...178,218,484
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive
ClinVar
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Sf3b1
splicing factor 3b, subunit 1
ISO
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive
ClinVar
PMID:25741868
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Abcb1a
ATP binding cassette subfamily B member 1A
treatment susceptibility
ISO
DNA:SNPs: :1236T>C,2677G>A(human) DNA:SNP, haplotype: :3435C>T (human)
RGD
PMID:24581936 PMID:26250462
RGD:11081178 , RGD:11081180
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Abcc2
ATP binding cassette subfamily C member 2
treatment
ISO
DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human)
RGD
PMID:25060527
RGD:11080961
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcg2
ATP binding cassette subfamily G member 2
treatment susceptibility
ISO
DNA:SNP: :421C>A(human) DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human) DNA:SNP,haplotype: :C>A421(human)
RGD
PMID:24581936 PMID:24123600 PMID:26250462
RGD:11081178 , RGD:11081181 , RGD:11081180
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
susceptibility treatment
ISO
ClinVar Annotator: match by term: ABL1-related disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib CTD Direct Evidence: marker/mechanism DNA:gene fusion DNA:missense mutations: :multiple
ClinVar CTD OMIM RGD
PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 PMID:12663457 PMID:15604220 PMID:18673174 PMID:21908430 PMID:24728327 PMID:25686603 PMID:25741868 PMID:28492532 PMID:33070465 PMID:33783941 PMID:36063163 PMID:3021820 PMID:25133686 PMID:21481795 PMID:12067277 PMID:23289634 More...
RGD:1598673 , RGD:13674161 , RGD:11038814 , RGD:14392796 , RGD:11038807
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Abl2
ABL proto-oncogene 2, non-receptor tyrosine kinase
TAS
RGD
PMID:7773298
RGD:1298615
NCBI chr13:68,673,702...68,770,846
Ensembl chr13:68,673,722...68,839,742
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Ace
angiotensin I converting enzyme
ISO
RGD
PMID:19761684
RGD:11039056
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Agt
angiotensinogen
ISO
RGD
PMID:19761684
RGD:11039056
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Akt1
AKT serine/threonine kinase 1
ISO
protein:increased phosphorylation:blood
RGD
PMID:17900686
RGD:13674160
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19503090 PMID:19823023
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Bcl2l1
Bcl2-like 1
ISO
RGD
PMID:20728382
RGD:11353850
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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Bcr
BCR activator of RhoGEF and GTPase
susceptibility treatment disease_progression
ISO
DNA:gene fusion CTD Direct Evidence: marker/mechanism BCR/ABL fusion DNA:methylation: : DNA:translocations:cds:
CTD OMIM RGD
PMID:15604220 PMID:18673174 PMID:21908430 PMID:33070465 PMID:3101769 PMID:12613514 PMID:25133686 PMID:12067277 PMID:7683349 PMID:2683759 PMID:1362728 More...
RGD:1600510 , RGD:41404631 , RGD:13674161 , RGD:14392796 , RGD:11038783 , RGD:11038776 , RGD:11038775
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Birc5
baculoviral IAP repeat-containing 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16254145
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Bmal1
basic helix-loop-helix ARNT like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16999817
NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
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Car9
carbonic anhydrase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17157168
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Casp6
caspase 6
treatment
ISO
human cells in mouse model
RGD
PMID:31952546
RGD:151667904
NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
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Cd36
CD36 molecule
ISO
protein:increased expression:platelet, cell surface
RGD
PMID:8555064
RGD:11041099
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd40
CD40 molecule
ISO
protein:increased expression:peripheral blood, dendritic cell (human)
RGD
PMID:16527350
RGD:11520794
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
Protein:increased expression:Blood, common myeloid progenitor, CD34-positive
RGD
PMID:20200561
RGD:13673878
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
treatment
ISO
RGD
PMID:16533530
RGD:11251777
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
treatment
ISO
RGD
PMID:16533530
RGD:11251777
G
Cdkn2a_v2
cyclin-dependent kinase inhibitor 2A, variant 2
treatment
ISO
RGD
PMID:16533530
RGD:11251777
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Chordc1
cysteine and histidine rich domain containing 1
ISS
OMIM:608232
MouseDO
NCBI chr 8:15,374,356...15,398,436
Ensembl chr 8:15,374,471...15,399,162
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Crkl
CRK like proto-oncogene, adaptor protein
ISO
protein:increased phosphorylation:blood
RGD
PMID:17900686
RGD:13674160
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
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Cry1
cryptochrome circadian regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16999817
NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:18,529,823...18,594,091
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Cry2
cryptochrome circadian regulator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16999817
NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
treatment
ISO
DNA:polymorphism:cds:4889A>G(p.I462V)(human)
RGD
PMID:26464823
RGD:11352729
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
susceptibility treatment
ISO
DNA:polymorphism:intron :6986A>G (human) DNA:SNP:: (rs776746) (human)
RGD
PMID:21039054 PMID:19584153
RGD:11353798 , RGD:11353810
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Dnmt1
DNA methyltransferase 1
disease_progression
ISO
RGD
PMID:11222358
RGD:9588667
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Dnmt3a
DNA methyltransferase 3 alpha
disease_progression
ISO
RGD
PMID:11222358
RGD:9588667
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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Dnmt3b
DNA methyltransferase 3 beta
disease_progression
ISO
RGD
PMID:11222358
RGD:9588667
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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E2f1
E2F transcription factor 1
ISO
mRNA:increased expression:blood
RGD
PMID:26460262
RGD:13674165
NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
DNA:polymorphism: :p.K751Q (human) DNA:polymorphism: :p.K751Q (rs13181) (human)
RGD
PMID:24955348 PMID:25311495
RGD:11252188 , RGD:11060463
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
mRNA:increased expression:bone marrow mononuclear cells (human)
RGD
PMID:27070757
RGD:13782088
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
G
Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human)
RGD
PMID:26563376
RGD:11049146
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
susceptibility
ISO
DNA:polymorphism:promoter: -844 T>C(human)
RGD
PMID:26563376
RGD:11049146
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Fcgr2a
Fc gamma receptor 2A
ISO
RGD
PMID:8632671
RGD:11344957
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
G
Fgfr3
fibroblast growth factor receptor 3
ISO
mRNA:increased expression:peripheral blood (human)
RGD
PMID:14562121
RGD:36947884
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Gab2
GRB2-associated binding protein 2
disease_progression
ISO
protein:increased expression:bone marrow
RGD
PMID:22858987
RGD:13699433
NCBI chr 1:151,429,844...151,625,708
Ensembl chr 1:151,429,695...151,625,031
G
Gpx1
glutathione peroxidase 1
no_association
ISO
DNA:polymorphism: :p.P198L (human)
RGD
PMID:25436036
RGD:11352762
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20843134
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Hes1
hes family bHLH transcription factor 1
IMP
rat gene in a mouse model
RGD
PMID:19861684
RGD:9685380
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
G
Hmmr
hyaluronan-mediated motility receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17157168
NCBI chr10:25,132,933...25,163,029
Ensembl chr10:25,132,977...25,163,060
G
Hmox1
heme oxygenase 1
ISO
RGD
PMID:22139798
RGD:10755566
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hspa5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23777986
NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891
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Il10
interleukin 10
treatment
ISO
RGD
PMID:20305143
RGD:11049154
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il1b
interleukin 1 beta
severity
ISO
RGD
PMID:7949186
RGD:10450889
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
severity
ISO
RGD
PMID:7949186
RGD:10450889
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Mapk14
mitogen activated protein kinase 14
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16818652
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
G
Mdm2
MDM2 proto-oncogene
onset
ISO
DNA:SNP:promoter:rs2279744(human)
RGD
PMID:23818300
RGD:13703044
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
G
Mir150
microRNA 150
ISO
miRNA:decreased expression:leukocytes
RGD
PMID:21501493
RGD:13782140
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
G
Mlf1
myeloid leukemia factor 1
ISO
RGD
PMID:15659732
RGD:1600902
NCBI chr 2:151,648,492...151,681,654
Ensembl chr 2:151,648,511...151,681,652
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:SNPs: :677C>T, 1298A>C(human)
RGD
PMID:17156840
RGD:10449408
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
G
Ncstn
nicastrin
ISS
OMIM:608232
MouseDO
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
G
Npm1
nucleophosmin 1
ISO
RGD
PMID:15659732
RGD:1600902
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645 Ensembl chr X:17,739,941...17,751,645
G
Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
DNA:SNP: :609C>T (human)
RGD
PMID:16235982
RGD:10769357
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:serum (human)
RGD
PMID:16521495
RGD:11552593
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
G
Per1
period circadian regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16999817
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
G
Per2
period circadian regulator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16999817
NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
G
Per3
period circadian regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16999817
NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607
G
Pramex1
PRAME like, X-linked 1
ISO
mRNA:increased expression:mononuclear cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17157168 PMID:20838376
RGD:11535035
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
G
Prtn3
proteinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17157168
NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
G
RT1-Ba
RT1 class II, locus Ba
onset
ISO
DNA:polymorphism, haplotype
RGD
PMID:17893434 PMID:17387388
RGD:11041777 , RGD:11041781
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism, haplotype
RGD
PMID:17893434
RGD:11041777
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Sf3b1
splicing factor 3b, subunit 1
ISO
ClinVar Annotator: match by term: Chronic myelogenous leukemia
ClinVar
PMID:25741868
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
G
Sh2b3
SH2B adaptor protein 3
ISS
OMIM:608232
MouseDO
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
G
Sipa1
signal-induced proliferation-associated 1
ISS
OMIM:608232
MouseDO
NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
G
Smad4
SMAD family member 4
ISO
mRNA:decreased expression:blood
RGD
PMID:29951173
RGD:13782079
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
G
Srsf1
serine and arginine rich splicing factor 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:23228155
RGD:11038774
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
G
Stat5a
signal transducer and activator of transcription 5A
disease_progression treatment
ISO
human cells in mouse model mRNA:increased expression:PBMC (human)
RGD
PMID:16522816 PMID:31952546 PMID:31952546
RGD:151667903 , RGD:151667904 , RGD:151667904
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
G
Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17157168 PMID:15068898
RGD:11038663
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Tgfb1
transforming growth factor, beta 1
ISO
protein:increased expression:serum
RGD
PMID:29951173
RGD:13782079
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
G
Usp15
ubiquitin specific peptidase 15
ISO
mRNA, protein:decreased expression:PBMC (human)
RGD
PMID:31952546
RGD:151667904
NCBI chr 7:58,756,714...58,848,778
Ensembl chr 7:58,756,872...58,848,721
G
Vegfa
vascular endothelial growth factor A
susceptibility
ISO
DNA:SNP,haplotype: :(rs6999470),(rs833061)(human)
RGD
PMID:19141860
RGD:13432135
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17157168
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
G
Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:SNP:cds :p.R194W(human)
RGD
PMID:26250462
RGD:11081180
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
G
Asxl1
ASXL transcriptional regulator 1
disease_progression
ISO
DNA:mutations:exon:
RGD
PMID:20880116
RGD:11038767
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
DNA:altered methylation:5'UTR:
RGD
PMID:12750705
RGD:11252180
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
G
Csf3r
colony stimulating factor 3 receptor
disease_progression
ISO
DNA:mutations:multiples:
RGD
PMID:23774674
RGD:10450469
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
severity
ISO
DNA:mutations:multiple (human)
RGD
PMID:21339759
RGD:10450882
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
G
Kdm6a
lysine demethylase 6A
ISS
MouseDO
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
G
Nras
NRAS proto-oncogene, GTPase
onset
ISO
RGD
PMID:26082490
RGD:11535058
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
G
Tet2
tet methylcytosine dioxygenase 2
ISO
DNA:missense mutations, nonsense mutations, splice-site mutations:multiple
RGD
PMID:20693430
RGD:11038679
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
G
Csf3r
colony stimulating factor 3 receptor
ISO
DNA:mutation:exon:p.T618I(human)
RGD
PMID:24081659 PMID:23604229
RGD:10450482 , RGD:10450483
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
G
Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21325069
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
G
Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625222
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
G
Alk
ALK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:22,880,625...23,598,034
G
B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7688627
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
G
Bcas2
BCAS2, pre-mRNA processing factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr 2:193,381,000...193,388,881
Ensembl chr 2:190,692,461...190,700,389
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Bcl2l2
Bcl2-like 2
disease_progression
ISO
RGD
PMID:28094768
RGD:14394511
NCBI chr15:32,326,686...32,337,834
Ensembl chr15:28,356,807...28,361,624
G
Bcl6
BCL6, transcription repressor
disease_progression
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949 PMID:15701085
RGD:1600111 , RGD:11530023
NCBI chr11:90,358,753...90,382,049
Ensembl chr11:76,854,090...76,877,389
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
G
Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9150172 PMID:18489799 PMID:20104584 PMID:21138478 PMID:22798144 PMID:22970155 PMID:24010542 PMID:24033266 PMID:24916970 PMID:25682074 PMID:25741868 PMID:25940717 PMID:26295337 PMID:26467025 PMID:26845104 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28692638 PMID:28724667 PMID:28993434 PMID:29310832 PMID:29335925 PMID:29360550 PMID:29752822 PMID:29907814 PMID:30093976 PMID:30287823 PMID:30613976 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30736435 PMID:30875412 PMID:31159747 PMID:31214711 PMID:31360904 PMID:31396961 PMID:31589614 PMID:31742824 PMID:31825140 PMID:31957001 PMID:32072338 PMID:32295079 PMID:32338768 PMID:32846166 PMID:32959997 PMID:33471991 PMID:33558524 PMID:36988593 More...
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:24869598 PMID:25082755 PMID:25189416 PMID:25741868 PMID:27199251 PMID:28049639 PMID:28212557 PMID:28418267 PMID:28492532 PMID:29496671 PMID:29875397 PMID:30018078 PMID:32455989 PMID:33154951 PMID:36029036 More...
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853
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Card11
caspase recruitment domain family, member 11
ISO
DNA:missense mutations:exons:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25049379 PMID:26192916 PMID:18323416
RGD:11100036
NCBI chr12:18,735,088...18,872,045
Ensembl chr12:13,621,087...13,758,112
G
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
G
Ccdc86
coiled-coil domain containing 86
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23828858
NCBI chr 1:217,015,059...217,021,439
Ensembl chr 1:207,590,168...207,596,544
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Cd22
CD22 molecule
treatment
ISO
RGD
PMID:25708834
RGD:151665133
NCBI chr 1:95,243,785...95,270,430
Ensembl chr 1:86,117,459...86,132,322
G
Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
RGD
PMID:20473910
RGD:5490541
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
G
Cd79a
CD79a molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25049379
NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:80,493,581...80,497,935
G
Cd79b
CD79b molecule
severity treatment
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diffuse large B cell lymphoma DNA:missense mutation:multiple, exon 5 (human) DNA:missense mutation:multiple, exon 5-6 (human) DNA:mutation:multiple (human)
CTD ClinVar RGD
PMID:11160144 PMID:21173233 PMID:31402495 PMID:31609782 PMID:25347427 PMID:25708834 PMID:28803429 More...
RGD:151665203 , RGD:11075852 , RGD:151665133 , RGD:151665120
NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625
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Cdk1
cyclin-dependent kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223503
NCBI chr20:19,265,252...19,280,456
Ensembl chr20:19,266,248...19,281,408
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21325069
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
G
Cltc
clathrin heavy chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr10:72,014,984...72,073,308
Ensembl chr10:71,517,663...71,573,737
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:24755471 PMID:28481359 PMID:30239046 PMID:33323405
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Dicer1
dicer 1 ribonuclease III
disease_progression
ISO
RGD
PMID:25195038
RGD:149735347
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 PMID:33238114 PMID:34315901 More...
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
G
Etv6
ETS variant transcription factor 6
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:35053500
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20081860 PMID:28438623
RGD:126779596
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
G
Fcgr2a
Fc gamma receptor 2A
disease_progression
ISO
DNA:SNP: :rs1801274 (human)
RGD
PMID:27282998
RGD:11344967
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
G
Foxo1
forkhead box O1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:26314988 PMID:29721381 PMID:35079069
NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790
G
Gli1
GLI family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625222
NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251
G
Gstm1
glutathione S-transferase mu 1
treatment
ISO
RGD
PMID:20303013
RGD:10450835
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
G
Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:SNP: :(rs1695)(human)
RGD
PMID:19338043
RGD:8547939
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
severity
ISO
DNA:deletion:cds:
RGD
PMID:20303013
RGD:10450835
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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Icam1
intercellular adhesion molecule 1
disease_progression
ISO
proteion:increased expression:serum:
RGD
PMID:12598355
RGD:11354982
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Il21r
interleukin 21 receptor
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949
RGD:1600111
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522
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Immp2l
inner mitochondrial membrane peptidase subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr 6:63,797,189...64,696,906
Ensembl chr 6:58,070,283...58,969,840
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Irf4
interferon regulatory factor 4
disease_progression
ISO
RGD
PMID:15701085
RGD:11530023
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804550
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Malt1
MALT1 paracaspase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr18:61,212,290...61,266,272
Ensembl chr18:58,942,299...58,994,260
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Mki67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:20919850
RGD:6483541
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:17712558
RGD:6893517
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Myd88
MYD88, innate immune signal transduction adaptor
severity
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diffuse large B cell lymphoma DNA:missense mutation:L265P (human) DNA:mutation:L265P, L265S (human)
CTD ClinVar RGD
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:25049379 PMID:28492532 PMID:31609782 PMID:25347427 PMID:28803429 More...
RGD:151665203 , RGD:11075852 , RGD:151665120
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415
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Nbn
nibrin
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9590180 PMID:16415040 PMID:28492532
NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:29,459,457...29,494,150
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:79,372,119...79,407,360
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:21390130 PMID:22158541 PMID:23292937
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
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Nfkbia
NFKB inhibitor alpha
no_association
ISO
RGD
PMID:15198731
RGD:2298905
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941
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Nom1
nucleolar protein with MIF4G domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr 4:6,562,931...6,586,093
Ensembl chr 4:5,892,909...5,909,709
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Pdpk1
3-phosphoinositide dependent protein kinase-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr10:13,610,000...13,687,226
Ensembl chr10:13,105,498...13,174,623
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr 8:108,474,017...108,579,140
Ensembl chr 8:99,594,644...99,699,663
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr 5:165,377,994...165,426,620
Ensembl chr 5:160,094,952...160,120,930
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
NCBI chr12:15,790,478...15,814,790
Ensembl chr12:10,676,764...10,701,066
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Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:22321048
RGD:150530470
NCBI chr20:49,542,465...49,564,088
Ensembl chr20:47,959,858...47,981,488
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Prdx3
peroxiredoxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 1:269,987,691...270,000,111
Ensembl chr 1:260,001,637...260,014,111
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Prdx4
peroxiredoxin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr X:43,876,374...43,893,815
Ensembl chr X:40,026,651...40,044,066
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Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31123343
NCBI chr15:31,938,927...31,948,318
Ensembl chr15:27,968,910...27,978,296
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9467011 PMID:10468583 PMID:10698513 PMID:10866302 PMID:10866658 PMID:11035045 PMID:12297295 PMID:17526800 PMID:17526801 PMID:21194675 PMID:21956414 PMID:22628360 PMID:24778394 PMID:24905788 PMID:25157968 PMID:25336918 PMID:25448482 PMID:25669429 PMID:25741868 PMID:26467025 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29874181 PMID:35931053 More...
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Rangap1
RAN GTPase activating protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27150054
NCBI chr 7:115,104,820...115,130,564
Ensembl chr 7:113,224,703...113,250,438
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Rps6kb1
ribosomal protein S6 kinase B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223503
NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,323,777...71,367,908
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Sec31a
SEC31 homolog A, COPII coat complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr14:9,518,655...9,573,579
Ensembl chr14:9,214,349...9,269,273
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Sf3a1
splicing factor 3A subunit 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:22037554 PMID:26498691 PMID:33563892
NCBI chr14:83,254,971...83,275,720
Ensembl chr14:79,031,394...79,052,144
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Skp2
S-phase kinase associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18850583
NCBI chr 2:59,888,406...59,916,471
Ensembl chr 2:58,161,229...58,189,338
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Smurf2
SMAD specific E3 ubiquitin protein ligase 2
ISS
MouseDO
NCBI chr10:92,261,516...92,362,185
Ensembl chr10:91,761,807...91,862,488
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Socs1
suppressor of cytokine signaling 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:19734449 PMID:23296022 PMID:26336985 PMID:28302137 PMID:29625055
NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:21690253 PMID:22591296 PMID:22859607 PMID:23926297 PMID:25873174 PMID:26702067 PMID:28492532 PMID:29162862 PMID:29180260 PMID:30940614 PMID:31737384 PMID:31770611 PMID:31771617 PMID:32231398 PMID:36228738 PMID:36240433 PMID:36630607 More...
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Syk
spleen associated tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33782605
NCBI chr17:12,756,493...12,830,927
Ensembl chr17:12,604,619...12,661,410
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Tbl1xr1
TBL1X/Y related 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9450851 PMID:16492805 PMID:21156281 PMID:21156282 PMID:25741868 PMID:26769062 PMID:28492532 PMID:28562391 PMID:32619424 PMID:32932517 PMID:35165208 More...
NCBI chr 2:106,718,811...106,857,989
Ensembl chr 2:104,801,721...104,929,055
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Tp53
tumor protein p53
ISS ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
MouseDO ClinVar
PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:10414702 PMID:11051239 PMID:11782540 PMID:12826609 PMID:14743206 PMID:16818505 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21343334 PMID:21519010 PMID:21601526 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28985567 PMID:29025599 PMID:29324801 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:33300245 PMID:36988593 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Txnip
thioredoxin interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:184,092,991...184,096,886
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
DNA:mutations:multiple (human)
RGD
PMID:27600764
RGD:150429643
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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Dhodh
dihydroorotate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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Umps
uridine monophosphate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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Atg2b
autophagy related 2B
ISO
ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar
NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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Bdkrb1
bradykinin receptor B1
ISO
ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bdkrb2
bradykinin receptor B2
ISO
ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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C6h14orf132
similar to human chromosome 14 open reading frame 132
ISO
ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar
NCBI chr 6:124,365,466...124,398,449
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Calr
calreticulin
severity
ISO
ClinVar Annotator: match by term: Thrombocythemia 1 DNA:mutations:multiple (human)
OMIM ClinVar RGD
PMID:24325356 PMID:24325359 PMID:25741868 PMID:24496303 PMID:25860380
RGD:11352751 , RGD:11352747
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Cd36
CD36 molecule
ISO
protein:increased expression:platelet, cell surface
RGD
PMID:8555064
RGD:11041099
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd40lg
CD40 ligand
ISO
protein:increased expression:serum (human)
RGD
PMID:22196954
RGD:11344979
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Elane
elastase, neutrophil expressed
ISO
protein:increased expression:plasma:
RGD
PMID:18768782
RGD:10450556
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15682418
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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Gskip
GSK3B interacting protein
ISO
ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar
NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
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Jak2
Janus kinase 2
severity
ISO ISS
DNA:mutation: :p.V617F (human) OMIM:187950 | OMIM:601977 | OMIM:614521 CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 PMID:19636672 PMID:20434300 PMID:21942426 PMID:23130336 More...
RGD:10449178
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
DNA:missense mutation:cds:pS505N (human) ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1 mRNA, protein:decreased expression:blood, platelet (human)
ClinVar RGD
PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:15269348 PMID:15531462 PMID:16199547 PMID:16470591 PMID:17054430 PMID:17666371 PMID:18090929 PMID:18422784 PMID:18451306 PMID:19036112 PMID:19302922 PMID:20188141 PMID:21489838 PMID:23625800 PMID:24033266 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26316487 PMID:26423830 PMID:27069254 PMID:28492532 PMID:28697167 PMID:28859041 PMID:28955303 PMID:31064749 PMID:31135094 PMID:32703794 PMID:35449633 PMID:35776903 PMID:36031433 PMID:37647632 PMID:14764528 PMID:11122159 More...
RGD:10449014 , RGD:10449016
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Myb
MYB proto-oncogene, transcription factor
ISS
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521
MouseDO
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Pdgfa
platelet derived growth factor subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15682418
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Pdgfb
platelet derived growth factor subunit B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15682418
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1
OMIM ClinVar
PMID:15705783 PMID:20404132 PMID:21990094 PMID:23812944 PMID:24777453 PMID:25741868 PMID:27449473 PMID:27651169 PMID:28484264 PMID:29590070 PMID:31173385 PMID:31298594 PMID:35281324 PMID:38924136 More...
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Tcl1a
Tcl1 family Akt coactivator A
ISO
ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar
NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15682418
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Thpo
thrombopoietin
ISO
ClinVar Annotator: match by term: Thrombocythemia 1 DNA:mutation:splice junction:
OMIM ClinVar RGD
PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:16199547 PMID:19553636 PMID:22194398 PMID:22453305 PMID:25741868 PMID:28492532 PMID:28955303 PMID:32430933 PMID:36226497 PMID:9425899 More...
RGD:1580083
Ensembl chr11:80,182,820...80,188,167
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Tunar
transmembrane neural differentiation associated intracellular calcium regulator
ISO
ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar
NCBI chr 6:124,245,949...124,293,440
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Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:serum:
RGD
PMID:24434346
RGD:11354980
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vwf
von Willebrand factor
ISO
RGD
PMID:25876231
RGD:11073823
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Cbl
Cbl proto-oncogene
treatment
ISO
RGD
PMID:20890046
RGD:11038805
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
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Cbx7
chromobox 7
ISO
RGD
PMID:25434821
RGD:11352713
NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:111,460,656...111,477,973
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
RGD
PMID:10090949
RGD:11251764
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Fgfr1
Fibroblast growth factor receptor 1
treatment
ISO
RGD
PMID:22781593
RGD:11352669
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Il1a
interleukin 1 alpha
treatment
ISO
RGD
PMID:2117483
RGD:11051972
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Lat2
linker for activation of T cells family, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32587277
NCBI chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288
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Nras
NRAS proto-oncogene, GTPase
induced
IAGP
DNA:transversion mutation, loss of heterozygosity:cds:
RGD
PMID:9142215
RGD:11535063
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32417439
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Runx1
RUNX family transcription factor 1
treatment
ISO
RGD
PMID:19236814
RGD:11251683
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: MALT lymphoma
ClinVar OMIM
PMID:9989495 PMID:10380920 PMID:10408400
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Birc3
baculoviral IAP repeat-containing 3
treatment
ISO
DNA:gene fusion: (human)
RGD
PMID:21465313
RGD:153305955
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
protein:increased expression: mucosa-associated lymphoid tissue (human)
RGD
PMID:27544389
RGD:152023632
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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RT1-Ba
RT1 class II, locus Ba
treatment
ISO
associated with Helicobacter Infections; DNA:polymorphim, haplotype: :HLA-DQA1*0103 (human)
RGD
PMID:16234023
RGD:5147794
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Irf8
interferon regulatory factor 8
ISS
OMIM:600080
MouseDO
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: DI GUGLIELMO DISEASE, FAMILIAL
ClinVar OMIM
PMID:25741868 PMID:27416908
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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Gata1
GATA binding protein 1
ISO
RGD
PMID:12149188
RGD:10450737
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Familial myelofibrosis
ClinVar
PMID:25741868
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Vps45
vacuolar protein sorting 45 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23599270
NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
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Atp5po
ATP synthase peripheral stalk subunit OSCP
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
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Cbr1
carbonyl reductase 1
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:25741868 PMID:28492532 PMID:34355501 More...
NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393
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Cbr3
carbonyl reductase 3
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532
NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875
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Cfap298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
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Chaf1b
chromatin assembly factor 1 subunit B
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532
NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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Cldn14
claudin 14
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532
NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
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Clic6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532 PMID:32581362 More...
NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
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Cryzl1
crystallin zeta like 1
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867
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Dnajc28
DnaJ heat shock protein family (Hsp40) member C28
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441
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Donson
DNA replication fork stabilization factor DONSON
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889
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Dop1b
DOP1 leucine zipper like protein B
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532
NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931
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Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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Epcip
exosomal polycystin 1 interacting protein
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439
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Eva1c
eva-1 homolog C
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596
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Gart
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
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Hlcs
holocarboxylase synthetase
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222
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Hunk
hormonally upregulated Neu-associated kinase
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:29,641,122...29,758,392
Ensembl chr11:29,640,775...29,757,526
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Ifnar1
interferon alpha and beta receptor subunit 1
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Ifnar2
interferon alpha and beta receptor subunit 2
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
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Ifngr2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
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Il10rb
interleukin 10 receptor subunit beta
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
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Itsn1
intersectin 1
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
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Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532 PMID:32581362
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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Kcne2
potassium voltage-gated channel subfamily E regulatory subunit 2
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:18478040 PMID:18487507 PMID:19357396 PMID:19679353 PMID:21626672 PMID:23512985 PMID:28492532 PMID:32581362 More...
NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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Kcnj6
potassium inwardly-rectifying channel, subfamily J, member 6
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758
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Mir802
microRNA 802
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:25741868 PMID:34355501
NCBI chr11:32,626,525...32,626,620
Ensembl chr11:32,626,525...32,626,620
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Mis18a
MIS18 kinetochore protein A
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062
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Morc3
MORC family CW-type zinc finger 3
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532
NCBI chr11:33,151,906...33,194,650
Ensembl chr11:33,152,025...33,194,646
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Mrap
melanocortin 2 receptor accessory protein
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
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Mrps6
mitochondrial ribosomal protein S6
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532 PMID:32581362
NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
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Olig1
oligodendrocyte transcription factor 1
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521
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Olig2
oligodendrocyte transcription factor 2
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
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Paxbp1
PAX3 and PAX7 binding protein 1
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
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Pigp
phosphatidylinositol glycan anchor biosynthesis, class P
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321
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Rcan1
regulator of calcineurin 1
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532 PMID:32581362
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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Ripply3
ripply transcriptional repressor 3
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,648,471...33,656,587
Ensembl chr11:33,648,486...33,656,584
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Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | ClinVar Annotator: match by term: PLATELET DISORDER, ASPIRIN-LIKE | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1958483 PMID:9536098 PMID:9606182 PMID:9837750 PMID:10068652 PMID:10508512 PMID:10594034 PMID:10973259 PMID:11049997 PMID:11276260 PMID:11675361 PMID:11830488 PMID:12002768 PMID:12060124 PMID:12172547 PMID:12200707 PMID:12377125 PMID:12393679 PMID:12807882 PMID:12874780 PMID:14504086 PMID:15156185 PMID:15749889 PMID:16199547 PMID:17234761 PMID:17237124 PMID:17290219 PMID:17485549 PMID:17576681 PMID:17650443 PMID:18192504 PMID:18478040 PMID:18487507 PMID:18723428 PMID:19357396 PMID:19387465 PMID:19448675 PMID:19679353 PMID:19808697 PMID:19850737 PMID:19946261 PMID:20549580 PMID:20722699 PMID:20846103 PMID:20880108 PMID:20955399 PMID:21626672 PMID:21725049 PMID:21880633 PMID:22012064 PMID:22318203 PMID:22430633 PMID:22649608 PMID:22689681 PMID:22898599 PMID:23471304 PMID:23512985 PMID:23751892 PMID:23753029 PMID:23817177 PMID:23848403 PMID:24100448 PMID:24523240 PMID:24732596 PMID:24792891 PMID:24853048 PMID:25159113 PMID:25490895 PMID:25640679 PMID:25741868 PMID:25840971 PMID:26175287 PMID:26316320 PMID:26525156 PMID:26580448 PMID:26884589 PMID:26916619 PMID:27106701 PMID:27112265 PMID:27137476 PMID:27210295 PMID:27294619 PMID:27418648 PMID:27479822 PMID:27931139 PMID:28102861 PMID:28179279 PMID:28231333 PMID:28240786 PMID:28492532 PMID:28513614 PMID:28659335 PMID:28748566 PMID:28801348 PMID:28933735 PMID:28960434 PMID:29055018 PMID:29146883 PMID:29365323 PMID:29666006 PMID:30600763 PMID:30990344 PMID:31034769 PMID:31048839 PMID:31064749 PMID:31135094 PMID:31245275 PMID:31289210 PMID:31309983 PMID:31470354 PMID:31648317 PMID:31698193 PMID:31876204 PMID:31989091 PMID:32051554 PMID:32208489 PMID:32315381 PMID:32570879 PMID:32581362 PMID:32782381 PMID:32935436 PMID:32943879 PMID:33075818 PMID:33692461 PMID:34028844 PMID:34166225 PMID:34355501 PMID:35776903 PMID:35796010 PMID:36112138 PMID:36583461 PMID:36819173 PMID:37738626 PMID:38312193 More...
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Scaf4
SR-related CTD-associated factor 4
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153
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Setd4
SET domain containing 4
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:25741868 PMID:28492532 PMID:34355501 More...
NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
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Sim2
SIM bHLH transcription factor 2
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
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Slc5a3
solute carrier family 5 member 3
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532 PMID:32581362
NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
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Smim11
small integral membrane protein 11
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532 PMID:32581362
NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
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Sod1
superoxide dismutase 1
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Son
SON DNA and RNA binding protein
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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Synj1
synaptojanin 1
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220
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Tiam1
TIAM Rac1 associated GEF 1
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901
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Tmem50b
transmembrane protein 50B
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661
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Ttc3
tetratricopeptide repeat domain 3
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:47,158,766...47,258,612
Ensembl chr11:33,688,952...33,788,975
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Urb1
URB1 ribosome biogenesis homolog
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
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Vps26c
VPS26 endosomal protein sorting factor C
ISO
ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr11:33,813,467...33,841,883
Ensembl chr11:33,792,389...33,841,447
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma
ClinVar
PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 PMID:33060403 PMID:34075200 More...
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Atp6ap1
ATPase H+ transporting accessory protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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Atp6v1b2
ATPase H+ transporting V1 subunit B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: Follicular lymphoma
ClinVar
PMID:9989495
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Bcl2
BCL2, apoptosis regulator
susceptibility
ISO
DNA:translocation: ;t(14;18)(q32;q21) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3287162 PMID:12855623 PMID:16671111 PMID:3287162
RGD:1599473 , RGD:734639
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
RGD
PMID:20473910
RGD:5490541
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
human gene in a mouse model
RGD
PMID:25582824
RGD:11344981
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Ebf1
EBF transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr10:29,095,858...29,489,142
Ensembl chr10:29,099,933...29,487,665
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Irf4
interferon regulatory factor 4
severity
ISO
RGD
PMID:17296585
RGD:11530032
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Kdsr
3-ketodihydrosphingosine reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25526675 PMID:8417785
RGD:1598985
NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
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Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415
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Rarres1
retinoic acid receptor responder 1
ISS
OMIM:151430
MouseDO
NCBI chr 2:151,749,715...151,783,975
Ensembl chr 2:151,749,715...151,783,978
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Rragc
Ras-related GTP binding C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chr 5:136,148,239...136,167,773
Ensembl chr 5:136,148,276...136,167,767
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Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536
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Kmt2d
lysine methyltransferase 2D
disease_progression
ISO
RGD
PMID:26722499
RGD:11553660
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Tbxas1
thromboxane A synthase 1
ISO
ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome | ClinVar Annotator: match by term: TBXAS1-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8702713 PMID:17203301 PMID:18264100 PMID:19114962 PMID:22735388 PMID:25741868 PMID:27156553 PMID:28492532 PMID:28748566 PMID:29068549 PMID:32935436 PMID:33185009 PMID:33244729 PMID:33595912 PMID:35395429 PMID:36574346 More...
NCBI chr 4:68,631,841...68,803,959
Ensembl chr 4:67,665,007...67,837,096
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8843970
RGD:11353776
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
RGD
PMID:9613675
RGD:11522762
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Map2k1
mitogen activated protein kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241536
NCBI chr 8:73,578,747...73,650,184
Ensembl chr 8:64,683,449...64,755,147
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Etv6
ETS variant transcription factor 6
ISO
ClinVar Annotator: match by term: Hematologic cancer
ClinVar
PMID:9694803 PMID:15806161 PMID:18305557 PMID:21680795 PMID:21714648 PMID:24904105 PMID:24997145 PMID:25581430 PMID:25741868 PMID:26102509 PMID:26522332 PMID:27365488 PMID:27895058 PMID:28492532 PMID:31064749 More...
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
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Slc19a1
solute carrier family 19 member 1
ameliorates
ISO
DNA:missense mutation:CDS:p.H27R (human)
RGD
PMID:21984221
RGD:10449413
NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972
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Tp53
tumor protein p53
ISO
DNA:missense mutation::p.R337H (human)
RGD
PMID:28387921
RGD:14995484
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Dclre1c
DNA cross-link repair 1C
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:9536098 PMID:11336668 PMID:12055248 PMID:12569164 PMID:12727634 PMID:15071507 PMID:15731174 PMID:15770702 PMID:16199547 PMID:17576681 PMID:18223550 PMID:19953608 PMID:19967552 PMID:20674517 PMID:21147755 PMID:21390052 PMID:21664875 PMID:22527898 PMID:24033266 PMID:24144642 PMID:25741868 PMID:25762520 PMID:25917813 PMID:25981738 PMID:26122175 PMID:26123418 PMID:26476407 PMID:26822949 PMID:28492532 PMID:29167666 PMID:32888943 PMID:34426522 PMID:36546626 More...
NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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Iftap
intraflagellar transport associated protein
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:25741868
NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15696198 PMID:15908971 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18223550 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19011808 PMID:19178939 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25104208 PMID:25516070 PMID:25739914 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26689875 PMID:27095930 PMID:27301863 PMID:27484032 PMID:27609655 PMID:27713031 PMID:28083621 PMID:28109013 PMID:28492532 PMID:28747913 PMID:28769923 PMID:28783691 PMID:28973083 PMID:29104089 PMID:29107076 PMID:29772310 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31031743 PMID:31130284 PMID:31503426 PMID:31520268 PMID:31980526 PMID:32000930 PMID:32373116 PMID:32445296 PMID:32447396 PMID:32655540 PMID:32888943 PMID:33193364 PMID:33365035 PMID:33628209 PMID:33954879 PMID:34664192 PMID:34889447 PMID:35281013 PMID:35729272 PMID:35902638 PMID:36279417 PMID:37724703 PMID:39062069 More...
NCBI chr 3:108,372,087...108,383,184
Ensembl chr 3:87,917,004...87,928,291
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:8617299 PMID:8810255 PMID:9630231 PMID:10635319 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:11908269 PMID:12200379 PMID:15025726 PMID:16960852 PMID:17476358 PMID:17572155 PMID:18025461 PMID:18033247 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:19470080 PMID:19912631 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21502542 PMID:21624848 PMID:21625022 PMID:22295088 PMID:22841008 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:24481607 PMID:25109802 PMID:25333069 PMID:25707801 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:28492532 PMID:28600779 PMID:28747913 PMID:28769923 PMID:28970295 PMID:29051008 PMID:29772310 PMID:30305145 PMID:30307608 PMID:30778343 PMID:31388879 PMID:32888943 PMID:35281013 PMID:35902420 More...
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Suv39h2
SUV39H2 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:25741868
NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332
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Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881 PMID:8656679
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd68
Cd68 molecule
severity
ISO
associated with Epstein-Barr Virus Infections;protein:increased expression:tumor(human) protein:increased expression:tumor (human)
RGD
PMID:21071500 PMID:23045593
RGD:40925944 , RGD:40925946
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17659339
NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17562247
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:28492532 PMID:32934698
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfr4
fibroblast growth factor receptor 4
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:32934698
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gstm1
glutathione S-transferase mu 1
disease_progression
ISO
RGD
PMID:21916526
RGD:10450802
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
disease_progression
ISO
RGD
PMID:21916526
RGD:10450802
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7621881 PMID:8656679 PMID:7686390
RGD:11520780
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Il10
interleukin 10
treatment
ISO
RGD
PMID:21466366
RGD:11049168
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il6
interleukin 6
treatment
ISO
DNA:SNPs: :multiple
RGD
PMID:19573080 PMID:21466366
RGD:11049165 , RGD:11049168
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035
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Klhdc8b
kelch domain containing 8B
susceptibility
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma | ClinVar Annotator: match by term: KLHDC8B-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:19706467 PMID:28492532
NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:20147967 PMID:20570890 PMID:25251940 PMID:25741868 PMID:26110767 PMID:26970110 PMID:28492532 PMID:30289595 PMID:30891959 PMID:32934698 More...
NCBI chr 4:178,185,418...178,218,484
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7545087
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:14559814 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 PMID:32934698 More...
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mthfd2
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24688052
NCBI chr 4:115,811,135...115,822,663
Ensembl chr 4:115,811,139...115,822,608
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:25741868 PMID:32934698
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Nfkbia
NFKB inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19223558 PMID:10340377 PMID:10556199
RGD:2298893 , RGD:2298894
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941
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Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:lymphoid tissue (human)
RGD
PMID:26044287
RGD:11060455
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531327
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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Pvt1
Pvt1 oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chr 7:93,656,528...93,879,938
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Rel
REL proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chr14:97,690,105...97,721,194
Ensembl chr14:97,695,161...97,720,892
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Sdc1
syndecan 1
ISO
protein:altered expression:tumor (human)
RGD
PMID:9746758
RGD:9743928
NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881 PMID:8701986 PMID:10908157 PMID:12358914 PMID:12453859 PMID:16879607 PMID:17261581 More...
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881 PMID:8656679 PMID:8701986 PMID:8896393 PMID:9058727 PMID:10908157 PMID:11552987 PMID:12358914 More...
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18768784
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition
OMIM ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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Slc11a2
solute carrier family 11 member 2
ISO
ClinVar Annotator: match by term: SLC11A2-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:35457224
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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Nfatc2
nuclear factor of activated T-cells 2
ISO
ClinVar Annotator: match by term: Joint contractures, osteochondromas, and B-cell lymphoma
OMIM ClinVar
PMID:25741868 PMID:35789258
NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325
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Akap12
A-kinase anchoring protein 12
disease_progression
ISO
RGD
PMID:26891149
RGD:14348967
NCBI chr 1:43,135,515...43,225,245
Ensembl chr 1:40,730,123...40,819,886
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Arhgap26
Rho GTPase activating protein 26
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM CTD ClinVar
PMID:10908648
NCBI chr18:30,835,806...31,237,945
Ensembl chr18:30,838,671...31,235,194
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Asxl1
ASXL transcriptional regulator 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
CTD ClinVar
PMID:20880116 PMID:21576631 PMID:21881046 PMID:22031865 PMID:22058207 PMID:22489043 PMID:23018865 PMID:23619563 PMID:23690417 PMID:24255920 PMID:24442206 PMID:24458439 PMID:24496303 PMID:24695057 PMID:25596267 PMID:25652455 PMID:25741868 PMID:26457647 PMID:27276561 PMID:27895058 PMID:28492532 PMID:30013160 PMID:32581362 More...
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
G
Cbl
Cbl proto-oncogene
ISO
DNA:mutations:cds: ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 PMID:19387008 PMID:19571318 PMID:19620960 PMID:19901108 PMID:20543203 PMID:20555362 PMID:20619386 PMID:20619389 PMID:20644105 PMID:20694012 PMID:20880116 PMID:20951944 PMID:20955399 PMID:21681191 PMID:21828135 PMID:21901340 PMID:22131879 PMID:22190897 PMID:22246246 PMID:22315502 PMID:22733026 PMID:23010802 PMID:23690417 PMID:23696637 PMID:23823657 PMID:24033266 PMID:24451042 PMID:24728327 PMID:24803665 PMID:25178484 PMID:25224413 PMID:25283271 PMID:25358541 PMID:25741868 PMID:25939664 PMID:25952305 PMID:26457647 PMID:27069254 PMID:27609087 PMID:28414188 PMID:28492532 PMID:28589114 PMID:28957739 PMID:29296819 PMID:29696744 PMID:31057598 PMID:32933826 PMID:33318624 PMID:33337535 PMID:33627783 PMID:33897294 PMID:35236052 PMID:38613168 PMID:19571318 More...
RGD:11038806
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
G
Csf2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22315502 PMID:9389708
RGD:10449526
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
G
Flt3
Fms related receptor tyrosine kinase 3
ISS
OMIM:607785
MouseDO
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
G
Gata2
GATA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
G
Jak3
Janus kinase 3
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23832011 PMID:23832011
RGD:11069125
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
G
Kras
KRAS proto-oncogene, GTPase
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM:607785
CTD ClinVar MouseDO
PMID:1875403 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19349489 PMID:19358724 PMID:20805368 PMID:20949522 PMID:20949621 PMID:21044336 PMID:21063026 PMID:21079152 PMID:21169357 PMID:22499344 PMID:22571758 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24033266 PMID:24138715 PMID:24629489 PMID:24720724 PMID:25623042 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26242988 PMID:26457647 PMID:26521233 PMID:26861459 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:32581362 PMID:34114335 PMID:35794233 More...
NCBI chr 4:178,185,418...178,218,484
G
Nf1
neurofibromin 1
ISO ISS
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM:607785 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 PMID:1783401 PMID:2114220 PMID:2948975 PMID:7581973 PMID:7607663 PMID:7633431 PMID:7649559 PMID:7655472 PMID:7874161 PMID:7903661 PMID:7904209 PMID:7981679 PMID:7981692 PMID:8069310 PMID:8099055 PMID:8264648 PMID:8302341 PMID:8385067 PMID:8437860 PMID:8499944 PMID:8499945 PMID:8544190 PMID:8664912 PMID:8669813 PMID:8829638 PMID:8837715 PMID:8845843 PMID:8957181 PMID:9003501 PMID:9042399 PMID:9150739 PMID:9180088 PMID:9195229 PMID:9219684 PMID:9219873 PMID:9298829 PMID:9385374 PMID:9463322 PMID:9475595 PMID:9536098 PMID:9545275 PMID:9639526 PMID:9691142 PMID:9783703 PMID:10076878 PMID:10336779 PMID:10543400 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10721668 PMID:10726756 PMID:10862084 PMID:10874316 PMID:10980545 PMID:11258625 PMID:11292340 PMID:11431704 PMID:11704931 PMID:11726231 PMID:11735023 PMID:11857752 PMID:12095621 PMID:12112660 PMID:12483293 PMID:12522551 PMID:12552569 PMID:12566521 PMID:12687660 PMID:12807981 PMID:12822827 PMID:12872266 PMID:14517963 PMID:14569132 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15207265 PMID:15523642 PMID:15846561 PMID:16199547 PMID:16380919 PMID:16397625 PMID:16461335 PMID:16479075 PMID:16513807 PMID:16542390 PMID:16544997 PMID:16690971 PMID:16773574 PMID:16786508 PMID:16835897 PMID:16870183 PMID:16937374 PMID:16941471 PMID:16944272 PMID:16961930 PMID:17114577 PMID:17160901 PMID:17209131 PMID:17295913 PMID:17311297 PMID:17406642 PMID:17426081 PMID:17551851 PMID:17576681 PMID:17889038 PMID:17914445 PMID:18041031 PMID:18183640 PMID:18484666 PMID:18546366 PMID:18800150 PMID:19061981 PMID:19076627 PMID:19120036 PMID:19142971 PMID:19738042 PMID:19845691 PMID:19935827 PMID:20301288 PMID:20601955 PMID:20602485 PMID:21089070 PMID:21278392 PMID:21280148 PMID:21354044 PMID:21362601 PMID:21520333 PMID:21532985 PMID:21838856 PMID:22034633 PMID:22108604 PMID:22155606 PMID:22190595 PMID:22315502 PMID:22608206 PMID:22703879 PMID:22807134 PMID:22925204 PMID:22965773 PMID:23047742 PMID:23244495 PMID:23404336 PMID:23407919 PMID:23460398 PMID:23637863 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23781326 PMID:23913538 PMID:24033266 PMID:24218100 PMID:24232412 PMID:24357598 PMID:24413922 PMID:24654934 PMID:24694336 PMID:24711935 PMID:24728327 PMID:24789688 PMID:24922668 PMID:24932921 PMID:25074460 PMID:25240281 PMID:25324867 PMID:25325900 PMID:25326637 PMID:25370043 PMID:25403449 PMID:25480383 PMID:25525159 PMID:25533962 PMID:25541118 PMID:25624686 PMID:25741868 PMID:25788518 PMID:25925892 PMID:25966637 PMID:26056819 PMID:26088551 PMID:26178382 PMID:26457647 PMID:26457648 PMID:26467025 PMID:26478990 PMID:26489445 PMID:26509978 PMID:26510091 PMID:26514327 PMID:26635368 PMID:26659639 PMID:26706011 PMID:26740943 PMID:26758488 PMID:26840085 PMID:26962827 PMID:26969325 PMID:27060315 PMID:27069254 PMID:27074763 PMID:27322474 PMID:27716896 PMID:27838393 PMID:27980226 PMID:28008555 PMID:28068329 PMID:28135719 PMID:28152038 PMID:28422438 PMID:28492532 PMID:28518168 PMID:28548933 PMID:28706617 PMID:28873162 PMID:28961165 PMID:28976792 PMID:29089047 PMID:29146900 PMID:29158289 PMID:29290338 PMID:29415745 PMID:29449315 PMID:29471550 PMID:29483232 PMID:29522274 PMID:29588991 PMID:29618358 PMID:29620724 PMID:29673180 PMID:29684080 PMID:29685074 PMID:29784605 PMID:29849115 PMID:29872168 PMID:29914388 PMID:29926981 PMID:29957862 PMID:30014477 PMID:30111351 PMID:30124220 PMID:30190611 PMID:30287823 PMID:30290804 PMID:30308447 PMID:30530636 PMID:30612635 PMID:30613976 PMID:31159747 PMID:31160754 PMID:31308404 PMID:31347283 PMID:31370276 PMID:31371350 PMID:31443423 PMID:31476437 PMID:31533651 PMID:31533797 PMID:31573083 PMID:31595648 PMID:31617914 PMID:31713330 PMID:31717729 PMID:31730495 PMID:31766501 PMID:31776437 PMID:32005694 PMID:32056211 PMID:32107864 PMID:32123317 PMID:32126153 PMID:32352596 PMID:32427313 PMID:32461654 PMID:32533764 PMID:32566746 PMID:32575496 PMID:32581362 PMID:32873259 PMID:32980694 PMID:33046013 PMID:33210232 PMID:33372952 PMID:33471991 PMID:33540839 PMID:33674644 PMID:33804961 PMID:33877690 PMID:33911094 PMID:33919865 PMID:34080803 PMID:34374989 PMID:34418705 PMID:34427956 PMID:34449562 PMID:34646065 PMID:34694046 PMID:34707296 PMID:34860164 PMID:34897289 PMID:34944956 PMID:34988040 PMID:35121649 PMID:35264596 PMID:35698239 PMID:35884425 PMID:35885913 PMID:36035419 PMID:36061378 PMID:36243179 PMID:36988593 PMID:37012328 PMID:37073110 PMID:37149759 PMID:37186028 PMID:37507557 PMID:37751797 PMID:38088145 PMID:38226287 PMID:125305868 More...
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
G
Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
CTD ClinVar
PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 PMID:10598665 PMID:12460918 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17823240 PMID:18375819 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19966803 PMID:20736745 PMID:21079152 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21586752 PMID:22220252 PMID:22499344 PMID:23325582 PMID:23708912 PMID:24284627 PMID:24806883 PMID:25741868 PMID:26457647 PMID:26980726 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:29692343 PMID:31412876 PMID:33681212 PMID:36130886 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO ISS
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM:607785 DNA:missense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 PMID:12161596 PMID:12325025 PMID:12529711 PMID:12634870 PMID:12717436 PMID:12739139 PMID:12826400 PMID:12900909 PMID:12960218 PMID:13908956 PMID:14634749 PMID:14644997 PMID:14676626 PMID:14961557 PMID:14974085 PMID:14982869 PMID:14991917 PMID:15001945 PMID:15009076 PMID:15121796 PMID:15240615 PMID:15248152 PMID:15273746 PMID:15385933 PMID:15389709 PMID:15520399 PMID:15539800 PMID:15604238 PMID:15644411 PMID:15689434 PMID:15710330 PMID:15712196 PMID:15723289 PMID:15725481 PMID:15761018 PMID:15834506 PMID:15842656 PMID:15889278 PMID:15928039 PMID:15929108 PMID:15940693 PMID:15948193 PMID:15956085 PMID:15985475 PMID:15987685 PMID:15996221 PMID:16053901 PMID:16078230 PMID:16115145 PMID:16124853 PMID:16166557 PMID:16172598 PMID:16263833 PMID:16338218 PMID:16358218 PMID:16369799 PMID:16377799 PMID:16399795 PMID:16461457 PMID:16488201 PMID:16498234 PMID:16518851 PMID:16523510 PMID:16533526 PMID:16557282 PMID:16631468 PMID:16638574 PMID:16643459 PMID:16679933 PMID:16733669 PMID:16804314 PMID:16830086 PMID:16892325 PMID:16924159 PMID:16987887 PMID:16990350 PMID:17020470 PMID:17052965 PMID:17143285 PMID:17177198 PMID:17222357 PMID:17227708 PMID:17339163 PMID:17361219 PMID:17497712 PMID:17515436 PMID:17546245 PMID:17576681 PMID:17641779 PMID:17661820 PMID:17875892 PMID:17910045 PMID:17935252 PMID:17942397 PMID:17972951 PMID:18080325 PMID:18241070 PMID:18253957 PMID:18260110 PMID:18331608 PMID:18372317 PMID:18373317 PMID:18378677 PMID:18454468 PMID:18470943 PMID:18559669 PMID:18562489 PMID:18678287 PMID:18701506 PMID:18758896 PMID:18759865 PMID:18849586 PMID:18854871 PMID:18925961 PMID:19008228 PMID:19017799 PMID:19020799 PMID:19047918 PMID:19054014 PMID:19061217 PMID:19063751 PMID:19077116 PMID:19120036 PMID:19125092 PMID:19133693 PMID:19174044 PMID:19179468 PMID:19251646 PMID:19352411 PMID:19509418 PMID:19568997 PMID:19621452 PMID:19651601 PMID:19706403 PMID:19725129 PMID:19737548 PMID:19768645 PMID:19773259 PMID:19795160 PMID:19798502 PMID:19825837 PMID:19835954 PMID:19864201 PMID:20030748 PMID:20112233 PMID:20186801 PMID:20237506 PMID:20301303 PMID:20301557 PMID:20308328 PMID:20383758 PMID:20493809 PMID:20535210 PMID:20543023 PMID:20578946 PMID:20651068 PMID:20718194 PMID:20883402 PMID:20954246 PMID:20979190 PMID:21204800 PMID:21321969 PMID:21339643 PMID:21340158 PMID:21365175 PMID:21365683 PMID:21407260 PMID:21526175 PMID:21533187 PMID:21548061 PMID:21555152 PMID:21567923 PMID:21590266 PMID:21747628 PMID:21784453 PMID:21901340 PMID:21910226 PMID:21910245 PMID:21930766 PMID:21934682 PMID:22190897 PMID:22315187 PMID:22315502 PMID:22371576 PMID:22411627 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22555271 PMID:22585553 PMID:22681964 PMID:22711529 PMID:22781091 PMID:22822385 PMID:22847776 PMID:22848035 PMID:22923420 PMID:23297836 PMID:23317994 PMID:23321623 PMID:23334666 PMID:23334668 PMID:23446178 PMID:23457302 PMID:23513489 PMID:23584145 PMID:23624134 PMID:23673659 PMID:23726368 PMID:23756559 PMID:23771920 PMID:23813970 PMID:23825065 PMID:23832011 PMID:23957426 PMID:23996481 PMID:24033266 PMID:24037001 PMID:24039098 PMID:24072241 PMID:24150203 PMID:24183200 PMID:24219368 PMID:24401936 PMID:24451042 PMID:24458522 PMID:24628801 PMID:24718990 PMID:24728327 PMID:24754368 PMID:24767283 PMID:24775816 PMID:24803665 PMID:24820750 PMID:24891296 PMID:24935154 PMID:25097206 PMID:25156961 PMID:25326637 PMID:25337068 PMID:25383899 PMID:25395418 PMID:25425531 PMID:25500235 PMID:25533962 PMID:25544017 PMID:25595571 PMID:25612910 PMID:25695693 PMID:25722345 PMID:25731833 PMID:25741868 PMID:25741869 PMID:25742478 PMID:25862627 PMID:25884655 PMID:25912702 PMID:25914815 PMID:25917897 PMID:26084119 PMID:26242988 PMID:26286251 PMID:26337637 PMID:26372199 PMID:26377839 PMID:26456833 PMID:26457647 PMID:26467025 PMID:26495027 PMID:26556299 PMID:26607044 PMID:26619011 PMID:26633542 PMID:26645620 PMID:26673822 PMID:26783207 PMID:26785492 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27038324 PMID:27069254 PMID:27104176 PMID:27117572 PMID:27153395 PMID:27168466 PMID:27193571 PMID:27238887 PMID:27276561 PMID:27353043 PMID:27484170 PMID:27521173 PMID:27562378 PMID:27626068 PMID:27659786 PMID:27783593 PMID:28051113 PMID:28074573 PMID:28098151 PMID:28135719 PMID:28191889 PMID:28363362 PMID:28483241 PMID:28492532 PMID:28628100 PMID:28650561 PMID:28681392 PMID:28748642 PMID:28911804 PMID:28921562 PMID:28957739 PMID:28991257 PMID:29038591 PMID:29057136 PMID:29146883 PMID:29212898 PMID:29214238 PMID:29263817 PMID:29276006 PMID:29346770 PMID:29356064 PMID:29493581 PMID:29517769 PMID:29555671 PMID:29620724 PMID:29625052 PMID:29693080 PMID:29703613 PMID:29848529 PMID:29907801 PMID:29988639 PMID:30025578 PMID:30029678 PMID:30050098 PMID:30055033 PMID:30287924 PMID:30294303 PMID:30311386 PMID:30325180 PMID:30355600 PMID:30410095 PMID:30417923 PMID:30455982 PMID:30515541 PMID:30541462 PMID:30602027 PMID:30604644 PMID:30692697 PMID:30732632 PMID:30784236 PMID:30868567 PMID:30896080 PMID:31040167 PMID:31064749 PMID:31164752 PMID:31219622 PMID:31263281 PMID:31292302 PMID:31324109 PMID:31370276 PMID:31446693 PMID:31560489 PMID:31564432 PMID:31573083 PMID:31637070 PMID:31722741 PMID:32059087 PMID:32164556 PMID:32233106 PMID:32371413 PMID:32410215 PMID:32561839 PMID:32581362 PMID:32719394 PMID:32737134 PMID:32746448 PMID:32824488 PMID:32860008 PMID:32901917 PMID:33091040 PMID:33258288 PMID:33300679 PMID:33318624 PMID:33568805 PMID:33726816 PMID:33811550 PMID:33850299 PMID:34006472 PMID:34008892 PMID:34143244 PMID:34194850 PMID:34356170 PMID:34411415 PMID:34782754 PMID:34974531 PMID:35418823 PMID:35885957 PMID:35904599 PMID:35979676 PMID:36135330 PMID:36304179 PMID:36349709 PMID:36474027 PMID:36567979 PMID:36939041 PMID:37019085 PMID:37493574 PMID:37525886 PMID:37568403 PMID:37605180 PMID:37923938 PMID:37987971 PMID:38318288 PMID:38413718 PMID:38540404 PMID:12717436 More...
RGD:11066398
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Rac2
Rac family small GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457648
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
G
Rras
RAS related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr 1:95,500,582...95,504,362
Ensembl chr 1:95,500,566...95,504,357
G
Rras2
RAS related 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr 1:168,233,693...168,303,111
Ensembl chr 1:168,233,693...168,303,111
G
Runx1
RUNX family transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
G
Setbp1
SET binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23832011 PMID:26457647
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
G
Sh2b3
SH2B adaptor protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
G
Zrsr2
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
G
Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
DNA:hypermethylation:promoter:
RGD
PMID:18426641
RGD:11100002
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
G
Ace
angiotensin I converting enzyme
disease_progression
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:12781647
RGD:11039000
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Acsl6
acyl-CoA synthetase long-chain family member 6
ISO
DNA:translocation: :t(5;12)(q31;p13) (human)
RGD
PMID:10502316
RGD:1599805
NCBI chr10:38,439,914...38,501,182
Ensembl chr10:38,440,080...38,498,757
G
Akr1c3
aldo-keto reductase family 1, member C3
ISO
DNA:SNP:intron:rs10508293 (human)
RGD
PMID:18339682
RGD:11541126
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
G
Alb
albumin
disease_progression
ISO
RGD
PMID:24182818
RGD:11035296
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
G
Aqp9
aquaporin 9
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15336539
NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
G
Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19235587
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:63,104,771...63,273,925
G
Atm
ATM serine/threonine kinase
IMP
DNA:deletion:exon:
RGD
PMID:28007901
RGD:12879399
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Atmem1Kyo
ATM serine/threonine kinase; ZFN induced mutant 1, Kyo
IMP
RGD
PMID:28007901
RGD:12879399
G
Bad
BCL2-associated agonist of cell death
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12970779
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
G
Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
G
Bcr
BCR activator of RhoGEF and GTPase
ISO
RGD
PMID:11313935
RGD:11038780
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
G
Birc2
baculoviral IAP repeat-containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12970779
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
G
Birc3
baculoviral IAP repeat-containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12970779
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
G
Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10602166
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
G
Cd28
Cd28 molecule
ISO
RGD
PMID:19075187
RGD:5131619
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
DNA:hypermethylation
RGD
PMID:8631003
RGD:8548743
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12970779
NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034
G
Daxx
death-domain associated protein
ISO
protein:increased expression:bone marrow:
RGD
PMID:17306074
RGD:9587840
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
G
Ddit4
DNA-damage-inducible transcript 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17379067
NCBI chr20:27,891,989...27,894,088
Ensembl chr20:27,891,998...27,894,105
G
Erg
ETS transcription factor ERG
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19108891
NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
G
Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18808365
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
G
Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: :
RGD
PMID:9326218
RGD:10450609
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
G
Fadd
Fas associated via death domain
ISO
DNA:SNP: :rs7939734 (human)
RGD
PMID:22244917
RGD:11341800
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
G
Fgf1
fibroblast growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17219402
NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
G
Foxm1
forkhead box M1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19436953
NCBI chr 4:161,639,538...161,652,012
Ensembl chr 4:161,638,816...161,650,684
G
Gfi1
growth factor independent 1 transcriptional repressor
ISO
mRNA:increased expression:bone marrow mononuclear cell:
RGD
PMID:20723283
RGD:11040452
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
G
Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:17205986
RGD:11352809
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gstm1
glutathione S-transferase mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14694614 PMID:18505952
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
G
Gsto1
glutathione S-transferase omega 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22293942
NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
G
Gstt1
glutathione S-transferase theta 1
no_association
ISO
RGD
PMID:18414197
RGD:10755326
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Il2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17500047
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Irf4
interferon regulatory factor 4
disease_progression
ISO
RGD
PMID:23977280
RGD:11526157
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
G
Jak2
Janus kinase 2
ISO
DNA:translocation: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19636672 PMID:9326218
RGD:10450609
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11731795 PMID:12937054
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
G
Kmt2e
lysine methyltransferase 2E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18818388
NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373
G
Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16412662
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
G
Nat2
N-acetyltransferase 2
susceptibility no_association
ISO
DNA:polymorphism: :
RGD
PMID:20884738 PMID:10383893
RGD:11532768 , RGD:10755329
NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520
G
Ncoa3
nuclear receptor coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19365708 PMID:19433130
NCBI chr 3:175,157,824...175,237,831
Ensembl chr 3:154,738,581...154,818,594
G
Nqo1
NAD(P)H quinone dehydrogenase 1
no_association
ISO
DNA:mutation: :609C>T (human) DNA:SNP: :609C>T (human)
RGD
PMID:11222389 PMID:15382274
RGD:10769349 , RGD:10769351
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
G
Nras
NRAS proto-oncogene, GTPase
onset
ISO
RGD
PMID:27109513
RGD:11535059
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
G
Pdgfra
platelet derived growth factor receptor alpha
ISO
DNA:fusion protein, missense mutation: :p.H650Q, p.R748G (human)
RGD
PMID:21224473
RGD:11075100
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
G
Plk1
polo-like kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26008977
NCBI chr 1:186,147,658...186,157,637
Ensembl chr 1:176,716,420...176,726,400
G
Ppp1r13l
protein phosphatase 1, regulatory subunit 13 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19299014
NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712
G
Pramex1
PRAME like, X-linked 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16179254
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
G
Prkcz
protein kinase C, zeta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12970779
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12970779
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15273746
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24509477
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
G
Smpd3
sphingomyelin phosphodiesterase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18283525
NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
G
Sphk1
sphingosine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18283525
NCBI chr10:102,257,413...102,263,086
Ensembl chr10:101,758,711...101,764,240
G
Syncrip
synaptotagmin binding, cytoplasmic RNA interacting protein
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28436985
NCBI chr 8:89,402,487...89,435,517
Ensembl chr 8:89,402,866...89,435,515
G
Tfpi
tissue factor pathway inhibitor
treatment
ISO
protein:decreased activity:plasma:
RGD
PMID:18549615 PMID:12206017
RGD:11060254 , RGD:11060255
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
G
Tnfsf10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17204177
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
G
Top2a
DNA topoisomerase II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15833037
NCBI chr10:84,441,954...84,473,093
Ensembl chr10:83,945,735...83,976,874
G
Tp53
tumor protein p53
disease_progression
ISO
protein:increased expression:bone marrow:
RGD
PMID:26524016
RGD:11073730
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14961577
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
G
Foxo1
forkhead box O1
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790
G
Foxo3
forkhead box O3
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561
G
Foxo4
forkhead box O4
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
G
Aicda
activation-induced cytidine deaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23589568
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Bcl2l1
Bcl2-like 1
ISO
RGD
PMID:21998213
RGD:11353857
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
DNA:hypermethylation:promoter:
RGD
PMID:10602427
RGD:11252194
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
G
Clptm1l
CLPTM1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
G
Eng
endoglin
disease_progression
ISO
RGD
PMID:25030442
RGD:11041170
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
G
Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: :
RGD
PMID:9539781
RGD:10450724
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
G
Fcgr2a
Fc gamma receptor 2A
no_association treatment
ISO
DNA:polymorphism:exon:p.H131A (human)
RGD
PMID:15217834 PMID:20705761
RGD:11344968 , RGD:11344969
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
G
Fcgr2b
Fc gamma receptor 2B
treatment
ISO
RGD
PMID:20705761
RGD:11344969
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
G
Fcgr3a
Fc gamma receptor 3A
no_association
ISO
DNA:polymorphism:exon:p.F158V (rs396991) (human)
RGD
PMID:15217834
RGD:11344968
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
G
Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:8569275
RGD:11059504
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
G
Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:cds:p.I105V(human)
RGD
PMID:12010828
RGD:10755404
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
G
Ipcef1
interaction protein for cytohesin exchange factors 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chr 1:43,237,903...43,451,735
Ensembl chr 1:43,269,202...43,427,969
G
Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17463288
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
G
Lyl1
LYL1, basic helix-loop-helix family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3162254
NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
G
Mecom
MDS1 and EVI1 complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770046
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
G
Pot1
protection of telomeres 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23502782 PMID:24292274
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
G
Runx1
RUNX family transcription factor 1
ISO
DNA:translocation: :
RGD
PMID:9539781
RGD:10450724
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
G
Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISS
MouseDO
NCBI chr 5:128,586,776...128,600,976
Ensembl chr 5:128,587,701...128,600,976
G
Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Atm
ATM serine/threonine kinase
IMP
DNA:missense mutation:cds: DNA:deletion:exon:
RGD
PMID:27895165 PMID:28007901
RGD:12879393 , RGD:12879399
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Atmem1Kyo
ATM serine/threonine kinase; ZFN induced mutant 1, Kyo
IMP
RGD
PMID:28007901
RGD:12879399
G
Atmm1Kyo
ATM serine/threonine kinase; ENU induced mutant 1, Kyo
IMP
RGD
PMID:27895165
RGD:12879393
G
Bcl11b
BCL11 transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17941976
NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
G
Ccnb1
cyclin B1
ISO
RGD
PMID:19666607
RGD:2315935
NCBI chr 2:33,646,252...33,655,225
Ensembl chr 2:31,912,193...31,921,172
G
Cd274
CD274 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28736328
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9488045
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9488045
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
G
Chd4
chromodomain helicase DNA binding protein 4
ISO
DNA:missense mutation:CDS p.D140E (rs7479004) (human)
RGD
PMID:25407497
RGD:153323305
NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
G
Ephx1
epoxide hydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
G
Ercc6
ERCC excision repair 6, chromatin remodeling factor
susceptibility
ISO
RGD
PMID:11238917
RGD:11567233
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
G
Hmga1
high mobility group AT-hook 1
ISS
MouseDO
NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
G
Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
G
Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11980663
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
G
Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
G
Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9205081
NCBI chr 4:178,185,418...178,218,484
G
Mad1l1
mitotic arrest deficient 1 like 1
ISO
RGD
PMID:11423979
RGD:1599865
NCBI chr12:14,320,892...14,630,750
Ensembl chr12:14,320,892...14,630,703
G
Malt1
MALT1 paracaspase
ISO
RGD
PMID:10523859
RGD:1599913
NCBI chr18:61,212,290...61,266,272
Ensembl chr18:58,942,299...58,994,260
G
Mir143
microRNA 143
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28736328
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
G
Mir155
microRNA 155
ISS
MouseDO
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mlh1
mutL homolog 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15700306
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16799656
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16799656
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18798262
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9205081
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
PMID:25741868
NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
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Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17441966
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Pafah1b2
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2
ISO
DNA:translocation:intron:t(ll;14)(q23;q32) (human)
RGD
PMID:11983068
RGD:4107059
NCBI chr 8:55,156,778...55,208,800
Ensembl chr 8:46,261,064...46,279,833
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22800774
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppp1r9b
protein phosphatase 1, regulatory subunit 9B
susceptibility
ISO
RGD
PMID:21670604
RGD:10043812
NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:17609424
RGD:6483350
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287727
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Ptger4
prostaglandin E receptor 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19075289
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
PMID:11704759 PMID:11992261 PMID:12161469 PMID:12325025 PMID:12634870 PMID:12960218 PMID:14644997 PMID:15001945 PMID:15928039 PMID:16498234 PMID:17497712 PMID:19077116 PMID:20301303 PMID:21407260 PMID:21533187 PMID:22420426 PMID:22465605 PMID:22711529 PMID:23624134 PMID:23771920 PMID:24033266 PMID:24037001 PMID:24219368 PMID:24451042 PMID:24458522 PMID:24803665 PMID:24935154 PMID:25156961 PMID:25337068 PMID:25741868 PMID:25741869 PMID:25862627 PMID:26084119 PMID:26242988 PMID:26456833 PMID:26467025 PMID:26495027 PMID:26607044 PMID:26817465 PMID:27038324 PMID:27104176 PMID:28492532 PMID:29493581 PMID:29907801 PMID:30055033 PMID:30311386 PMID:30417923 PMID:30692697 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32371413 PMID:32901917 PMID:34008892 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rac2
Rac family small GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19783987
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
RGD
PMID:9047386
RGD:2298891
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Rpl11
ribosomal protein L11
susceptibility
ISO
RGD
PMID:26489471
RGD:11535971
NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
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Setbp1
SET binding protein 1
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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Sox4
SRY-box transcription factor 4
ISO
RGD
PMID:15231650
RGD:1581305
NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lymphoma
CTD ClinVar
PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:9242456 PMID:9546439 PMID:9704930 PMID:10411893 PMID:10797439 PMID:11139324 PMID:11180592 PMID:11479205 PMID:11782540 PMID:12826609 PMID:15381368 PMID:15722483 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17606709 PMID:18511570 PMID:19258306 PMID:19367569 PMID:19556618 PMID:20113312 PMID:20128691 PMID:20407015 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24501221 PMID:24810334 PMID:25612911 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28154273 PMID:28369373 PMID:28492532 PMID:28573494 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31775759 PMID:32000721 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:36988593 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Twf1
twinfilin actin-binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19783987
NCBI chr 7:125,715,938...125,727,834
Ensembl chr 7:125,716,015...125,727,894
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Aicda
activation-induced cytidine deaminase
disease_progression
ISO
RGD
PMID:18090274
RGD:32716407
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7680712 PMID:9817281
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12176798
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Sdc1
syndecan 1
ISO
protein:altered expression:tumor (human)
RGD
PMID:11157493
RGD:9743929
NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
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Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:26325374
RGD:11062098
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11594583
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11594583
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11594583
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Cxcr4
C-X-C motif chemokine receptor 4
disease_progression
ISO
DNA:mutation:cds:1013C>G(p.S338X)(human)
RGD
PMID:24711662
RGD:11352304
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Fcgr3a
Fc gamma receptor 3A
disease_progression treatment
ISO
DNA:polymorphism: : DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:21564078 PMID:15659493
RGD:11040774 , RGD:11352262
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:bone marrow
RGD
PMID:32763516
RGD:401827827
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Il10
interleukin 10
ISO
DNA:SNPs: :multiple
RGD
PMID:19573080
RGD:11049165
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il6
interleukin 6
no_association
ISO
DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human) DNA:SNPs: :multiple
RGD
PMID:19573080 PMID:19573080
RGD:11049165 , RGD:11049165
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf4
interferon regulatory factor 4
ISO
RGD
PMID:23355206
RGD:11530052
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic
CTD ClinVar OMIM
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:28492532 PMID:30126942 More...
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415
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Ak1
adenylate kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
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Arhgap29
Rho GTPase activating protein 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488656
NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Btk
Bruton tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853
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C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:28492532
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:bone marrow, peripheral blood (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22383795 PMID:26174628 PMID:24060591
RGD:11352827
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Cd79b
CD79b molecule
treatment
ISO
protein:decreased expression:blood, B cell (human) human cells in mouse model
RGD
PMID:10329919 PMID:17374736
RGD:11531139 , RGD:151665154
NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Eif4e
eukaryotic translation initiation factor 4E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 2:227,066,519...227,099,261
Ensembl chr 2:227,066,673...227,098,683
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Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
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Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chr 5:165,377,994...165,426,620
Ensembl chr 5:160,094,952...160,120,930
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Pramex1
PRAME like, X-linked 1
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Tnfrsf10b
TNF receptor superfamily member 10b
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP:exon:626C>G, 1322A>G (human)
RGD
PMID:16217763 PMID:15531454
RGD:11038717 , RGD:11038718
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Wnt10a
Wnt family member 10A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Wnt3
Wnt family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099
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Bcl10
BCL10, immune signaling adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Gfi1
growth factor independent 1 transcriptional repressor
disease_progression
ISO
RGD
PMID:15231650
RGD:1581305
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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RT1-Ba
RT1 class II, locus Ba
ISO
associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQA1*0103 (human)
RGD
PMID:16234023
RGD:5147794
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human)
RGD
PMID:16234023
RGD:5147794
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Tp53
tumor protein p53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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H19
H19 imprinted maternally expressed transcript
disease_progression
ISO
DNA:SNPs:intron: (rs2839698) (human)
RGD
PMID:34077009
RGD:243048423
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Myd88
MYD88, innate immune signal transduction adaptor
ISS
MouseDO
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415
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Nefh
neurofilament heavy chain
ISO
associated with Peripheral Nervous System Diseases
RGD
PMID:12536221
RGD:9693726
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Samd9l
sterile alpha motif domain containing 9 like
ISO
ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow
OMIM ClinVar
PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 PMID:28570036 PMID:29146883 PMID:30046003 PMID:30322869 PMID:32810897 PMID:33884299 PMID:34621053 More...
NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
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Samd9
sterile alpha motif domain containing 9
ISO
ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2
OMIM ClinVar
PMID:2569483 PMID:25741868 PMID:28346228 PMID:28487541 PMID:28492532 PMID:29266745 PMID:29506479 PMID:29535429 PMID:30046003 PMID:30322869 PMID:31231135 PMID:32106287 PMID:33237688 PMID:34308104 PMID:34621053 More...
NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
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Abcg2
ATP binding cassette subfamily G member 2
treatment
ISO
RGD
PMID:26314844 PMID:16917002
RGD:11081075 , RGD:11081144
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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Ace
angiotensin I converting enzyme
ISO
protein:increased activity:serum
RGD
PMID:22345095
RGD:11038914
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Alb
albumin
disease_progression
ISO
RGD
PMID:17096887
RGD:11035276
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alkbh5
alkB homolog 5, RNA demethylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Arid4a
AT-rich interaction domain 4A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Aurka
aurora kinase A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:161,128,313...161,144,390
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Myelomatosis protein:increased expression:serum
ClinVar RGD
PMID:26619011 PMID:32856850
RGD:329955356
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
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Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bard1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:80,069,960...80,144,167
Ensembl chr 9:72,623,155...72,694,265
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12429644 PMID:14656874
RGD:11353847
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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Bcl2l10
Bcl2-like 10
ISO
protein:increased expression:bone marrow :
RGD
PMID:27455953
RGD:14392808
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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Bcorl1
BCL6 co-repressor-like 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:15001635 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19571295 PMID:20818844 PMID:20823850 PMID:21107320 PMID:21107323 PMID:22039425 PMID:22113612 PMID:22281684 PMID:23302800 PMID:23685455 PMID:24512911 PMID:24670642 PMID:24717435 PMID:25079330 PMID:25741868 PMID:25950823 PMID:28492532 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 PMID:22666503 PMID:25741868 PMID:28492532 PMID:30883759 PMID:33646313 More...
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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Btg1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
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Cbl
Cbl proto-oncogene
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:23948411
RGD:11038794
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
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Cbx7
chromobox 7
susceptibility
ISO
DNA:snp:intron:c.113+3502C>T (human) (rs877529) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23955597 PMID:23955597
RGD:11352716
NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:111,460,656...111,477,973
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccn1
cellular communication network factor 1
exacerbates
ISO
mRNA, protein:increased expression:bone marrow (human) mRNA,protein:increased expression:bone marrow (human)
RGD
PMID:28035364 PMID:25061178
RGD:329845528 , RGD:329845546
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Ccnd1
cyclin D1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Multiple myeloma DNA:snp:exon:c.870G>A (rs603965) (human)
OMIM CTD ClinVar RGD
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 PMID:15755896 PMID:23502783 More...
RGD:1581171 , RGD:11353784
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Ccnd2
cyclin D2
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Ccnd3
cyclin D3
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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Cd40
CD40 molecule
treatment
ISO
human cells in a mouse model
RGD
PMID:10866315
RGD:11522720
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:15565183 PMID:27243341 PMID:22403003
RGD:11352240 , RGD:11352268 , RGD:11352251
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd46
CD46 molecule
ISO
protein:increased expression:plasma cell (human)
RGD
PMID:16728275
RGD:11352814
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:bone marrow, plasma cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16611307 PMID:22705596
RGD:11354971
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdk4
cyclin-dependent kinase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 More...
NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:hypermethylation:: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16008847 PMID:12681979
RGD:11252185
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2c
cyclin-dependent kinase inhibitor 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 5:124,411,123...124,416,278
Ensembl chr 5:124,411,124...124,416,278
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Cfhr1
complement factor H-related 1
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:16930142
RGD:4892645
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Crbn
cereblon
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma
CTD ClinVar
PMID:26186254
NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7540856 PMID:8104070 PMID:8555506
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7534716 PMID:7540856
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyld
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)
RGD
PMID:18285692
RGD:11352726
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment no_association
ISO
DNA:polymorphisms: :
RGD
PMID:17666363 PMID:20684753
RGD:11352748 , RGD:11352804
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
no_association
ISO
DNA:polymorphisms: :
RGD
PMID:20684753
RGD:11352804
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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Dsg2
desmoglein 2
disease_progression
ISO
RGD
PMID:34245117
RGD:401851080
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Eif1ax
eukaryotic translation initiation factor 1A, X-linked
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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Eng
endoglin
severity
ISO
protein:increased expression:serum:
RGD
PMID:23576184
RGD:11041181
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:exon:rs2234922 (human) DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
CTD RGD
PMID:16949155 PMID:19736056 PMID:24521996 PMID:16949155
RGD:11252116 , RGD:11252122 , RGD:11252121
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
DNA:SNP: :rs735482 (human)
RGD
PMID:21435719
RGD:10450871
NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression sexual_dimorphism
ISO
DNA:polymorphism: :p.K751Q (rs13181) (human) DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)
RGD
PMID:22183071 PMID:17131345
RGD:11252199 , RGD:401827277
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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Faslg
Fas ligand
disease_progression
ISO
RGD
PMID:16321857
RGD:11049149
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fcgr2a
Fc gamma receptor 2A
disease_progression susceptibility
ISO
DNA:polymorphism: :rs1801274(human)
RGD
PMID:25850245 PMID:17315188
RGD:11040778 , RGD:11040938
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelomatosis
CTD ClinVar
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16501574 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18000976 PMID:18642369 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:21936542 PMID:22045636 PMID:23972473 PMID:24075385 PMID:24864036 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgg
fibrinogen gamma chain
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Flt3
Fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:26521986
RGD:11075232
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:increased expression:bone marrow
RGD
PMID:34274946
RGD:329901767
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8599825
RGD:11352777
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gstm1
glutathione S-transferase mu 1
severity no_association
ISO IAGP
RGD
PMID:17653713 PMID:15136237
RGD:10450826 , RGD:10450846
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
disease_progression treatment no_association
ISO
DNA:polymorphism: : DNA:polymorphism:cds:p.I105V(human)
RGD
PMID:23953887 PMID:17512053 PMID:18061666
RGD:10755413 , RGD:11075094 , RGD:10755419
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
susceptibility no_association
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:15136237 PMID:12624497
RGD:10450846 , RGD:10450847
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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H19
H19 imprinted maternally expressed transcript
severity
ISO
RNA:decrased expression:blood serum (human)
RGD
PMID:29470951
RGD:156430335
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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H1f4
H1.4 linker histone, cluster member
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
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H3c1
H3 clustered histone 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr17:41,368,379...41,368,902
Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856
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Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164
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Hfe
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation, haplotype:cds:p.C282Y (human)
RGD
PMID:10383894
RGD:8694350
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hk1
hexokinase 1
ISO
RGD
PMID:19996089
RGD:11353882
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Myelomatosis ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12855565
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:serum:
RGD
PMID:7834632 PMID:7686390
RGD:11354981 , RGD:11520780
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Igf2r
insulin-like growth factor 2 receptor
ISO
protein:increased expression:serum,urine:
RGD
PMID:29940770
RGD:14985218
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Il10
interleukin 10
disease_progression
ISO
DNA:SNP, polymorphisms:promoter:-1082G>A, (human) protein:increased expression:serum
RGD
PMID:11307152 PMID:11022130
RGD:11041888 , RGD:11049458
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-511C>T (human) DNA:SNP:promoter:-889C>T (human)
RGD
PMID:25469832 PMID:1777241 PMID:17926179
RGD:11049156 , RGD:11059513 , RGD:11051973
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human)
RGD
PMID:17926179
RGD:11051973
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
no_association
ISO
DNA:snp: :11100C>T (human) DNA:repeats:intron:
RGD
PMID:17926179 PMID:10848780
RGD:11051973 , RGD:11522764
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il4r
interleukin 4 receptor
susceptibility
ISO
DNA:SNP: :-228120T>C(rs2107356)(human)
RGD
PMID:17315188
RGD:11040938
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8520508 PMID:12855565 PMID:19330649
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Irf4
interferon regulatory factor 4
treatment disease_progression
ISO
DNA:translocation CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18568025 PMID:10557056 PMID:21707574 PMID:17690696
RGD:11526161 , RGD:11530055 , RGD:11530019
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Irf8
interferon regulatory factor 8
ISO
DNA:hypermethylation
RGD
PMID:23114132
RGD:329902071
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Kdm5c
lysine demethylase 5C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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Kmt2c
lysine methyltransferase 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 PMID:28492532 More...
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Multiple myeloma ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30891959 PMID:34117033 PMID:16321859 More...
RGD:1581756
NCBI chr 4:178,185,418...178,218,484
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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Lig4
DNA ligase 4
ISO
DNA:polymorphisms ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:27063650 PMID:27612988 PMID:28492532 PMID:12471202 More...
RGD:1600305
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Maf
MAF bZIP transcription factor
ISS
OMIM:254500
MouseDO
NCBI chr19:60,259,200...60,622,145
Ensembl chr19:43,360,342...43,712,365
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:polymorphisms:cds:p.E148Q,M694V(human)
RGD
PMID:25202401
RGD:11531123
NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
RGD
PMID:11830493
RGD:2317526
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
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Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
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Mga
MAX dimerization protein MGA
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Mir155
microRNA 155
disease_progression
ISO
miRNA:decreased expression:serum
RGD
PMID:25497370 PMID:28446295
RGD:21079441 , RGD:24922226
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir17
microRNA 17
disease_progression
ISO
miRNA:increased expression:plasma cell
RGD
PMID:23718138
RGD:329337383
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir19a
microRNA 19a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
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Mir27a
microRNA 27a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
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Mir320a
microRNA 320a
ameliorates
ISO
human gene in mouse model
RGD
PMID:27086852
RGD:155882577
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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Mir92a1
microRNA 92a-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413
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Mst1r
macrophage stimulating 1 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:missense mutations:cds:677C>T, 1298A>C (human)
RGD
PMID:24839819
RGD:10449397
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66G>A(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9949172
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Ncor2
nuclear receptor co-repressor 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:37,127,736...37,289,612
Ensembl chr12:31,466,412...31,628,319
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
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Nfkbia
NFKB inhibitor alpha
ISO
RGD
PMID:16540234 PMID:12377412
RGD:2298898 , RGD:2298895
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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Nono
non-POU domain containing, octamer-binding
exacerbates
ISO
mRNA:increased expression: (human)
RGD
PMID:32410217
RGD:155900765
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Notch2
notch receptor 2
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:14726396
RGD:1580763
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Nox1
NADPH oxidase 1
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nqo1
NAD(P)H quinone dehydrogenase 1
no_association
ISO
DNA:missense mutation:cds:p.P187S (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.P187S (609C>T) (human)
CTD RGD
PMID:16949155 PMID:18156703 PMID:18061666
RGD:10769348 , RGD:10755419
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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Nras
NRAS proto-oncogene, GTPase
treatment
ISO
DNA:mutation: : ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25073507 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 PMID:33681212 PMID:36130886 PMID:24335104 More...
RGD:11535049
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nuak1
NUAK family kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873845
NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21917757
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404
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Pf4
platelet factor 4
ameliorates
ISO
RGD
PMID:21693026
RGD:329901828
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Pml
PML nuclear body scaffold
severity
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:22906876
RGD:41404686
NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971
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Polr1g
RNA polymerase I subunit G
sexual_dimorphism
ISO
DNA:SNP:exon 1: p.G-21A (rs967591) (human)
RGD
PMID:17131345
RGD:401827277
NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
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Pon1
paraoxonase 1
severity susceptibility treatment
ISO
protein:decreased activity:serum (human) DNA:missense mutation:cds:p.Q192R (human)
RGD
PMID:25520116 PMID:15136237 PMID:22348216
RGD:11552578 , RGD:10450846 , RGD:11040544
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pramex1
PRAME like, X-linked 1
severity
ISO
associated with bortezomib treatment;mRNA:increased expression:bone marrow (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16179254 PMID:24791872
RGD:11535030
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29158558
NCBI chr15:31,938,927...31,948,318
Ensembl chr15:27,968,910...27,978,296
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Psors1c2
psoriasis susceptibility 1 candidate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11054717
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Ranbp2
RAN binding protein 2
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:19171422
RGD:9835349
NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,442,217...26,493,481
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Rbbp8
RB binding protein 8, endonuclease
exacerbates
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:30622325
RGD:401940173
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Rbp1
retinol binding protein 1
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:28492532
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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RT1-CE16
RT1 class I, locus CE16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17283154
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Runx1
RUNX family transcription factor 1
ISO
mRNA:splice variant
RGD
PMID:12560229
RGD:6482834
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Sgk1
serum/glucocorticoid regulated kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:24,799,391...24,916,886
Ensembl chr 1:22,980,261...23,098,283
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15908783 PMID:15908783
RGD:1581238
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Sparc
secreted protein acidic and cysteine rich
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:hypermethylation: :
CTD RGD
PMID:18172295 PMID:23699600
RGD:11073605
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16208410
RGD:1581367
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tet3
tet methylcytosine dioxygenase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:21654517
RGD:11062101
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tgfb1
transforming growth factor, beta 1
disease_progression
ISO
DNA:hypermethylation: : protein:decreased expression:serum:
RGD
PMID:23699600 PMID:22560388
RGD:11073605 , RGD:11073614
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
treatment no_association
ISO
DNA:SNP:promoter:-238G>A (human) DNA:SNP:promoter:-308G>A (human)
RGD
PMID:12200397 PMID:12815949
RGD:10449450 , RGD:10449453
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b
TNF receptor superfamily member 10b
treatment
ISO
RGD
PMID:16531263
RGD:11038719
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf17
TNF receptor superfamily member 17
ISO
RGD
PMID:15692072
RGD:2317306
NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53
tumor protein p53
disease_progression treatment
ISO
DNA:polymorphism:cds:p.R72P(human) ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis DNA:deletion: : protein:increased expression:nucleus:
ClinVar RGD
PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 PMID:2046748 PMID:7732013 PMID:7887414 PMID:7969167 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8423216 PMID:8479749 PMID:8718514 PMID:9047394 PMID:9242456 PMID:9399838 PMID:9482117 PMID:9546439 PMID:9704930 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11904319 PMID:12672316 PMID:12826609 PMID:14743206 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18685109 PMID:19367569 PMID:19454241 PMID:19556618 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22666503 PMID:22811390 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:23612969 PMID:24501221 PMID:24677579 PMID:24810334 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28573494 PMID:28873162 PMID:29324801 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31212162 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:36988593 PMID:24611901 PMID:12745272 PMID:22261445 More...
RGD:11073716 , RGD:11075073 , RGD:11073728
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Trnt1
tRNA nucleotidyl transferase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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Tyms
thymidylate synthetase
treatment no_association
ISO
DNA:polymorphism: : DNA:repeats:5'UTR:
RGD
PMID:17512053 PMID:17655928
RGD:11075094 , RGD:11075095
NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536
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Ulk4
unc-51 like kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22120009
NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924
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Vegfa
vascular endothelial growth factor A
susceptibility
ISO
DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human)
RGD
PMID:24687381
RGD:11079182
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xdh
xanthine dehydrogenase
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Xpo5
exportin 5
severity
ISO
DNA:snp:3' utr:c.*659A>C (rs11077) (human)
RGD
PMID:22539802
RGD:11041735
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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Xrcc3
X-ray repair cross complementing 3
disease_progression
ISO
DNA:SNP,haplotype:: p.T241M (rs861535) (Human)
RGD
PMID:17131345
RGD:401827277
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNPs:multiple (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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Xrcc5
X-ray repair cross complementing 5
susceptibility
ISO
DNA:SNP:3'-UTR (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018
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Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Ythdf1
YTH N6-methyladenosine RNA binding protein F1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
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Yy1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
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Clu
clusterin
disease_progression
ISO
RGD
PMID:23702390
RGD:8923490
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:epidermis, dermis (human)
RGD
PMID:24127318
RGD:8695934
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*03 (human)
RGD
PMID:15761416
RGD:7483574
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Sod2
superoxide dismutase 2
ISO
protein:increased expression:skin:
RGD
PMID:20833513
RGD:8547521
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Acsl6
acyl-CoA synthetase long-chain family member 6
ISO
ClinVar Annotator: match by term: ACSL6-related condition
ClinVar
PMID:25741868
NCBI chr10:38,439,914...38,501,182
Ensembl chr10:38,440,080...38,498,757
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Arpc1b
actin related protein 2/3 complex, subunit 1B
treatment
ISO
RGD
PMID:22608605
RGD:11046272
NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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Asxl1
ASXL transcriptional regulator 1
treatment disease_progression
ISO ISS
ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome OMIM:614286 CTD Direct Evidence: marker/mechanism DNA:mutations:cds:
OMIM ClinVar MouseDO CTD RGD
PMID:16199547 PMID:20880116 PMID:21576631 PMID:21706002 PMID:21881046 PMID:22031865 PMID:22058207 PMID:22237106 PMID:22489043 PMID:23018865 PMID:23619563 PMID:23690417 PMID:24255920 PMID:24442206 PMID:24458439 PMID:24496303 PMID:24695057 PMID:24728327 PMID:25596267 PMID:25652455 PMID:25741868 PMID:26467025 PMID:27276561 PMID:27895058 PMID:27992414 PMID:28492532 PMID:29681105 PMID:30147881 PMID:39825153 PMID:24045501 PMID:23099237 PMID:24216483 PMID:21576631 More...
RGD:11038769 , RGD:10450876 , RGD:11038712 , RGD:11038707
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Atg7
autophagy related 7
ISS
OMIM:614286
MouseDO
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19157545
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bap1
BRCA1 associated deubiquitinase 1
ISS
OMIM:614286
MouseDO
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bcl2l10
Bcl2-like 10
susceptibility treatment
ISO
DNA:SNP:cds:p.Leu21Arg rs2231292)(human)
RGD
PMID:24047476 PMID:21760590
RGD:11058140 , RGD:14392809
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24571310
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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Cd40
CD40 molecule
ISO
protein:increased expression:peripheral blood, monocyte (human)
RGD
PMID:17805323
RGD:11520793
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
DNA:deletion: :
RGD
PMID:9171997
RGD:10450601
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
severity
ISO
DNA:hypermethylation: :
RGD
PMID:20658957
RGD:11251750
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
disease_progression treatment
ISO
DNA:altered methylation: : CTD Direct Evidence: marker/mechanism DNA:hypermethylation: : DNA:altered methylation:promoter:
CTD RGD
PMID:17294728 PMID:20658957 PMID:23683424 PMID:17611569
RGD:11251750 , RGD:11252195 , RGD:11252169
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16105982 PMID:14562111
RGD:11341680
NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034
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Crebbp
CREB binding protein
ISS
OMIM:614286
MouseDO
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Csf3r
colony stimulating factor 3 receptor
disease_progression
ISO
DNA:SNP:cds:p.E785K(human) Protein:decreased expression:CD34++ cell:
RGD
PMID:15644419 PMID:12670333
RGD:10450471 , RGD:10450504
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Ctnna1
catenin alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19874806
NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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Ddx41
DEAD-box helicase 41
ISO
ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome
ClinVar
PMID:25741868 PMID:26712909 PMID:27133828 PMID:27795557 PMID:28492532 PMID:28547672 PMID:30963592 PMID:31484648 PMID:32098966 PMID:33585199 More...
NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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Ddx42
DEAD-box helicase 42
ISO
mRNA:decreased expression:bone marrow mononuclear cell (human)
RGD
PMID:16211284
RGD:9850279
NCBI chr10:91,148,926...91,180,940
Ensembl chr10:91,148,254...91,180,939
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Dlk1
delta like non-canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18575777
NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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Dnmt1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32431489
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Dnmt3a
DNA methyltransferase 3 alpha
disease_progression
ISO
DNA:mutations:cds: CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.R882 (human)
CTD RGD
PMID:32431489 PMID:21415852 PMID:22066015
RGD:11041122 , RGD:11041124
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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Dnmt3b
DNA methyltransferase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32431489
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Egr1
early growth response 1
ISS
OMIM:614286
MouseDO
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12670338 PMID:16076383
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Myelodysplastic syndrome
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532 PMID:34209587 PMID:36479692
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression
ISO
DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:25154760 PMID:26482462
RGD:11252197 , RGD:11075607
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: : DNA:deletion: :
RGD
PMID:12203785 PMID:18476590 PMID:9171997
RGD:1581019 , RGD:10450605 , RGD:10450601
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
severity
ISO
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:bone marrow, mononuclear cell (human)
CTD RGD
PMID:20601954 PMID:22869879 PMID:21125401
RGD:10450880 , RGD:10450887
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Fas
Fas cell surface death receptor
ISO
mRNA,protein:increased expression:bone marrow: protein:increased expression:peripheral blood mononuclear cell:
RGD
PMID:9557605 PMID:15686130
RGD:11049447 , RGD:11049448
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
mRNA,protein:increased expression:bone marrow: protein:decreased expression:peripheral blood mononuclear cell:
RGD
PMID:9557605 PMID:15686130
RGD:11049447 , RGD:11049448
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fcgr3a
Fc gamma receptor 3A
ISO
RGD
PMID:24264604
RGD:11352253
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Flt3
Fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia
ClinVar
PMID:22417203
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gata1
GATA binding protein 1
severity disease_progression
ISO ISS
OMIM:614286 CTD Direct Evidence: marker/mechanism mRNA:increased expression:bone marrow
MouseDO CTD RGD
PMID:28963909 PMID:15572684 PMID:12145700 PMID:17570514
RGD:10450734 , RGD:10450753 , RGD:10450752
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Gata2
GATA binding protein 2
severity susceptibility
ISO
mRNA:increased expression:bone marrow: ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:4508672 PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21892158 PMID:21892162 PMID:22147895 PMID:22271902 PMID:22533337 PMID:23223431 PMID:23365458 PMID:23502222 PMID:24033149 PMID:24077845 PMID:24227816 PMID:24266605 PMID:24345756 PMID:25359990 PMID:25619630 PMID:25676417 PMID:25741868 PMID:25879889 PMID:26492932 PMID:26702063 PMID:26710799 PMID:26812071 PMID:27288520 PMID:27418648 PMID:27577878 PMID:27992414 PMID:28259234 PMID:28492532 PMID:28747912 PMID:28947108 PMID:29588856 PMID:29724903 PMID:30578959 PMID:31035956 PMID:31246134 PMID:31256854 PMID:31309983 PMID:31340620 PMID:31350183 PMID:32135276 PMID:33510405 PMID:34051752 PMID:34576178 PMID:12145700 More...
RGD:10450753
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Gfi1
growth factor independent 1 transcriptional repressor
ISO
mRNA:decreased expression:bone marrow:
RGD
PMID:18371060
RGD:11040459
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Myelodysplastic syndromes CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28087732 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32918542 PMID:32963807 PMID:39825153 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Gstm1
glutathione S-transferase mu 1
susceptibility treatment
ISO
RGD
PMID:16620556 PMID:15595630
RGD:10450800 , RGD:10450836
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:missense mutation:cds:313A>G (p.I105V)(human)
RGD
PMID:23278642
RGD:10755416
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
disease_progression no_association
ISO
RGD
PMID:8569364 PMID:23859717 PMID:9164324
RGD:10450772 , RGD:10450840 , RGD:10450779
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28963909
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hfe
homeostatic iron regulator
ISO
DNA:missense mutations:cds:p.H63D, p.C282Y (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17001480 PMID:12624489
RGD:10755559
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
disease_progression
ISO
DNA:mutation: :
RGD
PMID:24936872
RGD:11522722
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Myelodysplastic syndromes
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21250968 PMID:21596855 PMID:21889589 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Il1b
interleukin 1 beta
ISO
mRNA:increased expression:bone marrow
RGD
PMID:10697556
RGD:10450881
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2ra
interleukin 2 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Myelodysplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Itgb3
integrin subunit beta 3
ISO
RGD
PMID:16121636
RGD:10755468
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Kmt2e
lysine methyltransferase 2E
ISO
RGD
PMID:18952892
RGD:9588548
NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27992414
NCBI chr 4:178,185,418...178,218,484
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Lgr6
leucine-rich repeat-containing G protein-coupled receptor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32215045
NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945
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Lyl1
LYL1, basic helix-loop-helix family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16094422
NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Macroh2a1
macroH2A.1 histone
ISS
OMIM:614286
MouseDO
NCBI chr17:8,479,331...8,542,071
Ensembl chr17:8,479,372...8,542,072
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Mdm2
MDM2 proto-oncogene
no_association
ISO
DNA:SNP:cds:309T>G(rs2279744)(human)
RGD
PMID:22668018
RGD:11073731
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:polymorphisms:cds:p.M694V,E148Q(human)
RGD
PMID:22351163
RGD:11531114
NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66A>G(human)
RGD
PMID:18774170
RGD:11075096
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Mybl2
MYB proto-oncogene like 2
ISS
OMIM:614286
MouseDO
NCBI chr 3:172,124,765...172,153,221
Ensembl chr 3:151,705,288...151,733,708
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10914558
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Npm1
nucleophosmin 1
ISS ISO
OMIM:614286 ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia
MouseDO ClinVar
PMID:15659725 PMID:20026798 PMID:32581362
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645 Ensembl chr X:17,739,941...17,751,645
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Nqo1
NAD(P)H quinone dehydrogenase 1
no_association
ISO
DNA:missense mutation:cds:609C>T (p.P187S) (human)
RGD
PMID:23643325
RGD:10769356
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia
ClinVar RGD
PMID:15951308 PMID:25741868 PMID:28098151 PMID:28492532 PMID:28594414 PMID:23708912 More...
RGD:11535060
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Plcb1
phospholipase C beta 1
severity treatment
ISO
mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19805378 PMID:16820933 PMID:21109771
RGD:11535164 , RGD:11535956
NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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Pmepa1
prostate transmembrane protein, androgen induced 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32215045
NCBI chr 3:162,011,884...162,060,343
Ensembl chr 3:162,012,751...162,060,454
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Polg
DNA polymerase gamma, catalytic subunit
ISS
OMIM:614286
MouseDO
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Pramex1
PRAME like, X-linked 1
ISO
mRNA:increased expression:bone marrow, blood (human)
RGD
PMID:24763007
RGD:11535028
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Rap1gap
Rap1 GTPase-activating protein
ISO
mRNA:increased expression:bone marrow, mononuclear cells (human)
RGD
PMID:18551404
RGD:9835346
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
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Runx1
RUNX family transcription factor 1
disease_progression
ISO
DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple ClinVar Annotator: match by term: Myelodysplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:18723428 PMID:25741868 PMID:27992414 PMID:17910630
RGD:11251705
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Samd9
sterile alpha motif domain containing 9
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelodysplastic syndrome
CTD ClinVar
PMID:27182967 PMID:28492532 PMID:30046003 PMID:37160314
NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
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Samd9l
sterile alpha motif domain containing 9 like
ISS
OMIM:614286
MouseDO
NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
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Sf3b1
splicing factor 3b, subunit 1
ISO ISS
ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia | ClinVar Annotator: match by term: SF3B1-related condition OMIM:614286 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:21909114 PMID:21995386 PMID:25741868 PMID:28492532 PMID:33978189
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Slc22a5
solute carrier family 22 member 5
ISO
mRNA:decreased expression:PBMCs (human)
RGD
PMID:12802501
RGD:1580610
NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
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Smpd3
sphingomyelin phosphodiesterase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18283525
NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
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Sphk1
sphingosine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18283525
NCBI chr10:102,257,413...102,263,086
Ensembl chr10:101,758,711...101,764,240
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Srsf11
serine and arginine rich splicing factor 11
ISO
mRNA:splice variant:bone marrow, hematopoietic stem cell (human)
RGD
PMID:24244432
RGD:11038800
NCBI chr 2:247,074,623...247,101,460
Ensembl chr 2:247,074,631...247,101,425
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Srsf2
serine and arginine rich splicing factor 2
ISO ISS
DNA:missense mutations:cds:multiple (human) OMIM:614286
MouseDO RGD
PMID:23280334
RGD:11039052
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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Stag2
STAG2 cohesin complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27992414
NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
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Tert
telomerase reverse transcriptase
severity
ISO
mRNA:splice variants:cds ClinVar Annotator: match by term: Myelodysplasia
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:29463756 PMID:33718801 PMID:24844605 PMID:19270495 More...
RGD:11038659 , RGD:11038661
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
severity
ISO
ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: TET2-related condition CTD Direct Evidence: marker/mechanism DNA:mutations:multiple DNA:missense mutations, nonsense mutations, splice-site mutation:multiple
OMIM ClinVar CTD RGD
PMID:19483684 PMID:24728327 PMID:25741868 PMID:27992414 PMID:28492532 PMID:23099237 PMID:20693430 More...
RGD:10450876 , RGD:11038679
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28963909
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:increased expression:serum mRNA:increased expression:bone marrow
RGD
PMID:15888251 PMID:10697556
RGD:10450530 , RGD:10450881
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
disease_progression treatment no_association
ISO
DNA:mutation: : CTD Direct Evidence: marker/mechanism DNA:mutations: : DNA:SNP:cds: p.R72P(rs1042522)(human)
CTD RGD
PMID:27992414 PMID:24836762 PMID:25412846 PMID:25573287 PMID:22668018 PMID:24043769 More...
RGD:11073714 , RGD:11057925 , RGD:11075071 , RGD:11073731 , RGD:11073729
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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U2af1
U2 small nuclear RNA auxiliary factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158538
NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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Xrcc1
X-ray repair cross complementing 1
no_association
ISO
DNA:SNP: :p.R280H (human) DNA:SNP: :p.R194W, p.R399Q (human)
RGD
PMID:26482462 PMID:26482462
RGD:11075607 , RGD:11075607
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zfpm2
zinc finger protein, multitype 2
ISO
RGD
PMID:15705784
RGD:1580640
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Zrsr2
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutations:multiple (human) DNA:missense mutation:multiple (human)
CTD RGD
PMID:27992414 PMID:28220884 PMID:22343920 PMID:28942350 PMID:25586593
RGD:151347177 , RGD:151232292 , RGD:151232291 , RGD:151232290
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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Dido1
death inducer-obliterator 1
ISS
MouseDO
NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20601953 PMID:24218139
RGD:11038772
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Asxl1
ASXL transcriptional regulator 1
disease_progression
ISO
DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human) DNA:mutations: :
RGD
PMID:21712540 PMID:23619563
RGD:11038705 , RGD:11038768
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Atg2b
autophagy related 2B
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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Bdkrb1
bradykinin receptor B1
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bdkrb2
bradykinin receptor B2
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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C6h14orf132
similar to human chromosome 14 open reading frame 132
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,365,466...124,398,449
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Calr
calreticulin
ISO
ClinVar Annotator: match by term: CALR-related condition | ClinVar Annotator: match by term: Primary myelofibrosis CTD Direct Evidence: marker/mechanism DNA:frameshift mutations:cds:p.L367fs*46, p.K385fs*47 (human) DNA:mutations:multiple (human)
OMIM ClinVar CTD RGD
PMID:24325356 PMID:24325359 PMID:25741868 PMID:28492532 PMID:24997152 PMID:25860380 More...
RGD:11352753 , RGD:11352747
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
RGD
PMID:23571153
RGD:11252175
NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
no_association
ISO
DNA:polymorphism: :p.K751Q (rs13181) (human)
RGD
PMID:23716550
RGD:11252191
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
severity
ISO
DNA:mutations:exons, introns:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20601953 PMID:21921040
RGD:10450870
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Flt3
Fms related receptor tyrosine kinase 3
ISO
mRNA,protein:increased expression:multiple:
RGD
PMID:21487043
RGD:11049484
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
ISO
protein:increased expression:plasma, CD34+ cell, bone marrow fibroblast:
RGD
PMID:21487043
RGD:11049484
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Gata1
GATA binding protein 1
ISO ISS
OMIM:254450
MouseDO RGD
PMID:16127162
RGD:10450748
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Gskip
GSK3B interacting protein
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
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Hfe
homeostatic iron regulator
no_association susceptibility
ISO
DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human) DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)
RGD
PMID:19258483 PMID:19258483
RGD:10755491 , RGD:10755491
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Jak2
Janus kinase 2
treatment
ISO ISS
idiopathic myelofibrosis, OMIM:254450 ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:16951397 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19154659 PMID:19287382 PMID:19287384 PMID:19287385 PMID:19293426 PMID:19636672 PMID:20703299 PMID:21942426 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 PMID:15781101 PMID:22796437 More...
RGD:1627655 , RGD:10449377
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kmt2a
lysine methyltransferase 2A
exacerbates
ISO
DOID:4971DNA:mutations:multiple (human)
RGD
PMID:35731275
RGD:156420157
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO IMP
ClinVar Annotator: match by term: Myelofibrosis with myeloid metaplasia | ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971404 PMID:10971406 PMID:11071383 PMID:11133753 PMID:11972523 PMID:16199547 PMID:16219544 PMID:16470591 PMID:16834459 PMID:16868251 PMID:17576681 PMID:17666371 PMID:18090929 PMID:18240171 PMID:18422784 PMID:18769448 PMID:19036112 PMID:19302922 PMID:19388932 PMID:20113333 PMID:20188141 PMID:20529857 PMID:21225925 PMID:21326037 PMID:21489838 PMID:21659346 PMID:23625800 PMID:23908116 PMID:24033266 PMID:24119002 PMID:24438083 PMID:24728327 PMID:25023898 PMID:25538044 PMID:25539746 PMID:25741868 PMID:26316487 PMID:26423830 PMID:26854587 PMID:27100302 PMID:27418648 PMID:28034873 PMID:28104920 PMID:28492532 PMID:28697167 PMID:28823277 PMID:28859041 PMID:28955303 PMID:29625052 PMID:30886832 PMID:31064749 PMID:31249973 PMID:31294534 PMID:32581362 PMID:32581363 PMID:32703794 PMID:35314707 PMID:35449633 PMID:35477182 PMID:35776903 PMID:35861108 PMID:36031433 PMID:36451132 PMID:19671919 More...
RGD:10449004
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Myb
MYB proto-oncogene, transcription factor
ISS
OMIM:254450
MouseDO
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Ncor2
nuclear receptor co-repressor 2
ISS
OMIM:254450
MouseDO
NCBI chr12:37,127,736...37,289,612
Ensembl chr12:31,466,412...31,628,319
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15705783 PMID:20404132 PMID:21990094 PMID:24777453 PMID:25741868 PMID:27449473 PMID:27651169 PMID:28484264 PMID:29590070 PMID:31173385 PMID:35281324 PMID:38924136 More...
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
PMID:25741868 PMID:26936507 PMID:32581362
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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Tcl1a
Tcl1 family Akt coactivator A
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Tgfb1
transforming growth factor, beta 1
treatment
ISO
protein:increased expression:plasma,bone marrow: mRNA:increased expression:spleen,bone marrow:
RGD
PMID:23462118 PMID:23462118 PMID:23462118
RGD:11073609 , RGD:11073609 , RGD:11073609
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tp53
tumor protein p53
disease_progression
ISO
associated with Myelodysplastic Syndromes;
RGD
PMID:26123119
RGD:11073713
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tunar
transmembrane neural differentiation associated intracellular calcium regulator
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,245,949...124,293,440
G
Rbsn
rabenosyn, RAB effector
ISO
ClinVar Annotator: match by term: Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities
ClinVar OMIM
PMID:29784638
NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578
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Ago2
argonaute RISC catalytic component 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21535412
NCBI chr 7:105,018,202...105,105,118
Ensembl chr 7:105,029,120...105,104,974
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Atg2b
autophagy related 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26280900
NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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Bcr
BCR activator of RhoGEF and GTPase
ISO
Leukaemia, chronic monocytic
OMIA
PMID:21143615 PMID:37009802
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Camlg
calcium modulating ligand
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:12031912
RGD:2316229
NCBI chr17:8,992,697...9,003,576
Ensembl chr17:8,992,696...9,003,552
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Cbx7
chromobox 7
treatment
ISO
RGD
PMID:26343356
RGD:11352715
NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:111,460,656...111,477,973
G
Csf3
colony stimulating factor 3
disease_progression
ISO
RGD
PMID:7510191
RGD:11039040
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Dhfr
dihydrofolate reductase
ISO
RGD
PMID:12649191
RGD:11039541
NCBI chr 2:25,320,895...25,346,004
Ensembl chr 2:23,586,031...23,613,713
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Erg
ETS transcription factor ERG
ISO
RGD
PMID:23719302
RGD:10450751
NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
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Esr2
estrogen receptor 2
ISO
RGD
PMID:12740446
RGD:734951
NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
G
Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:19506298
RGD:11352666
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
G
Flt3
Fms related receptor tyrosine kinase 3
ISO
RGD
PMID:17936561
RGD:11049465
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gata1
GATA binding protein 1
ISO
RGD
PMID:23719302
RGD:10450751
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Gata2
GATA binding protein 2
disease_progression
ISO
DNA:missense mutation:cds:p.L359V
RGD
PMID:19304323
RGD:11049517
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Gfi1
growth factor independent 1 transcriptional repressor
ISO
RGD
PMID:21732494
RGD:11040451
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Gskip
GSK3B interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26280900
NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
G
Gstm1
glutathione S-transferase mu 1
disease_progression
ISO
RGD
PMID:11906705 PMID:16313269
RGD:10755328 , RGD:10755403
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:SNP:cds:p.I105V (rs1695) (human)
RGD
PMID:20843134
RGD:10755535
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
susceptibility no_association disease_progression
ISO
RGD
PMID:21254556 PMID:16313269 PMID:18760837
RGD:10755324 , RGD:10755403 , RGD:10755327
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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Hdac2
histone deacetylase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21535412
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Ifng
interferon gamma
treatment
ISO
RGD
PMID:20959405
RGD:10755686
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:decreased expression:blood:
RGD
PMID:23716272
RGD:12743616
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
G
Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8282816 PMID:17463288
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
G
Kmt2e
lysine methyltransferase 2E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18854576
NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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Mecom
MDS1 and EVI1 complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770046
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Mn1
MN1 proto-oncogene, transcriptional regulator
ISO
acute myeloid leukemia, DNA:translocation
RGD
PMID:7731705
RGD:1600424
NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:10621836
RGD:10449009
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
G
Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11882782
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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Nsd3
nuclear receptor binding SET domain protein 3
ISO
RGD
PMID:11986249
RGD:1599847
NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
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Pdgfra
platelet derived growth factor receptor alpha
ISO
RGD
PMID:24486648
RGD:11075087
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
mRNA:increased expression:blood (human)
RGD
PMID:23772643
RGD:11541098
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
G
Pramex1
PRAME like, X-linked 1
severity
ISO
human cell line in a mouse model
RGD
PMID:16103086
RGD:11535036
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
G
Prdx2
peroxiredoxin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16932348
NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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Rad21
RAD21 cohesin complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955599
NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
G
Setbp1
SET binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23832012
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
G
Smarcd2
SWI/SNF related BAF chromatin remodeling complex subunit D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28369036
NCBI chr10:91,193,752...91,202,817
Ensembl chr10:91,193,752...91,204,341
G
Smc1a
structural maintenance of chromosomes 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955599
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
G
Smc3
structural maintenance of chromosomes 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955599
NCBI chr 1:252,601,422...252,644,522
Ensembl chr 1:252,601,753...252,644,522
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Snca
synuclein alpha
ISO
RGD
PMID:21264917
RGD:6478703
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
G
Spi1
Spi-1 proto-oncogene
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17361223
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
G
Srsf1
serine and arginine rich splicing factor 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:23228155
RGD:11038774
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
G
Stag2
STAG2 cohesin complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955599
NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
G
Top2b
DNA topoisomerase II beta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16932348
NCBI chr15:9,051,340...9,111,721
Ensembl chr15:9,051,341...9,112,085
G
Ugt1a1
UDP glucuronosyltransferase family 1 member A1
treatment
ISO
DNA:polymorphism: :
RGD
PMID:23609856
RGD:10768829
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21535412
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Ctcf
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
CTD ClinVar
PMID:24056718 PMID:27993330
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Dcaf7
DDB1 and CUL4 associated factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24056718
NCBI chr10:90,974,095...90,996,275
Ensembl chr10:90,974,095...90,996,275
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24056718
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
G
Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome | ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome
ClinVar RGD
PMID:12172547 PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:27993330 PMID:28492532 PMID:14636651 More...
RGD:10450612
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Jak1
Janus kinase 1
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
ClinVar
PMID:27993330
NCBI chr 5:120,895,606...121,004,207
Ensembl chr 5:115,780,248...115,888,926
G
Kansl1
KAT8 regulatory NSL complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24056718
NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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Mfsd11
major facilitator superfamily domain containing 11
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
ClinVar
PMID:27993330
NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
CTD ClinVar
PMID:2407301 PMID:2989702 PMID:17332249 PMID:17517660 PMID:18375819 PMID:19775298 PMID:21079152 PMID:24056718 PMID:25741868 PMID:27993330 PMID:28492532 PMID:31412876 PMID:36130886 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
ClinVar
PMID:15384080 PMID:16358218 PMID:16804314 PMID:17020470 PMID:24803665 PMID:25741868 PMID:27993330 PMID:28492532 PMID:32786180 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rad21
RAD21 cohesin complex component
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
CTD ClinVar
PMID:24056718 PMID:27993330
NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
G
Srsf2
serine and arginine rich splicing factor 2
ISO
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
ClinVar
PMID:27993330
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
G
Stag2
STAG2 cohesin complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24056718
NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24056718
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24571310
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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Mir150
microRNA 150
ISO
miRNA:decreased expression:leukocytes
RGD
PMID:21501493
RGD:13782140
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
G
Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
disease_progression
ISO
DNA:hypermethylation:promoter
RGD
PMID:19344397 PMID:11559572
RGD:11038809 , RGD:11038811
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Bcr
BCR activator of RhoGEF and GTPase
disease_progression
ISO
RGD
PMID:19344397
RGD:11038809
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
treatment
ISO
DNA:polymorphism:intron :6986A>G (human)
RGD
PMID:23394475
RGD:11353797
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
DNA:SNP: :rs11615 (human)
RGD
PMID:22821389
RGD:11252165
NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963
G
Gfi1
growth factor independent 1 transcriptional repressor
disease_progression
ISO
mRNA,protein:increased expression:mononuclea cell, CD34+ cell
RGD
PMID:19887785 PMID:23411466
RGD:11040457 , RGD:11040461
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
G
Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:blood:
RGD
PMID:19360458
RGD:11040460
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
G
Akr1c3
aldo-keto reductase family 1, member C3
ISO
RGD
PMID:1665987
RGD:11552589
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Atg2b
autophagy related 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26280900
NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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Bcr
BCR activator of RhoGEF and GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22875613
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Calr
calreticulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29047144
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Cbl
Cbl proto-oncogene
disease_progression
ISO
ClinVar Annotator: match by term: Myeloproliferative disorder DNA:mutations:exons: DNA:mutations:cds:
ClinVar RGD
PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 PMID:20619389 PMID:20694012 PMID:20951944 PMID:21828135 PMID:22190897 PMID:22246246 PMID:22733026 PMID:23010802 PMID:23690417 PMID:25178484 PMID:25224413 PMID:25741868 PMID:25952305 PMID:27069254 PMID:28492532 PMID:29296819 PMID:33318624 PMID:33627783 PMID:20951944 PMID:19387008 PMID:22315494 More...
RGD:11038798 , RGD:11038808 , RGD:11038804
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
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Cd36
CD36 molecule
ISO
protein:increased expression:platelet, plasma membrane
RGD
PMID:12479587
RGD:11040908
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Myeloproliferative disorder
ClinVar
PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 PMID:33238114 PMID:34315901 More...
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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Egr1
early growth response 1
ISO
RGD
PMID:17420284
RGD:5131859
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
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Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: :
RGD
PMID:9044825
RGD:10450608
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
RGD
PMID:22233633
RGD:10450869
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:16959024
RGD:11340218
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fgfr1
Fibroblast growth factor receptor 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21936542 PMID:22875613 PMID:15448205 PMID:12969958
RGD:11352309 , RGD:11352667
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr1op2
FGFR1 oncogene partner 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22875613
NCBI chr 4:179,491,602...179,512,630
Ensembl chr 4:179,491,599...179,512,630
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Flt3
Fms related receptor tyrosine kinase 3
ISO
RGD
PMID:17936561
RGD:11049465
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gfi1
growth factor independent 1 transcriptional repressor
ISO
RGD
PMID:22932805
RGD:11040453
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:blood:
RGD
PMID:19360458
RGD:11040460
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
G
Gpx1
glutathione peroxidase 1
ISO
DNA:polymorphism: :p.P198L (human)
RGD
PMID:27077777
RGD:11352761
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gskip
GSK3B interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26280900
NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
G
Hspa5
heat shock protein family A (Hsp70) member 5
ISO
RGD
PMID:21937694
RGD:11354915
NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891
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Igf1r
insulin-like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35568132
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Myeloproliferative disorder
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Irf4
interferon regulatory factor 4
ISO
RGD
PMID:20585039
RGD:11530030
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Irf8
interferon regulatory factor 8
ISO
RGD
PMID:20585039
RGD:11530030
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Jak2
Janus kinase 2
severity no_association
ISO
DNA:SNPs:introns: (rs12343867, rs10974944) (human) ClinVar Annotator: match by term: Myeloproliferative disorder CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.V617F (human) DNA:SNP:intron: (rs12342421) (human)
ClinVar CTD RGD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22087750 PMID:22397670 PMID:23535062 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:29047144 PMID:32581362 PMID:35568132 PMID:23845539 PMID:15858187 PMID:23845539 More...
RGD:10449376 , RGD:10449393 , RGD:10449376
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kras
KRAS proto-oncogene, GTPase
ISO
DNA:missense mutation: :p.G12D (mouse)
RGD
PMID:21451123
RGD:11060138
NCBI chr 4:178,185,418...178,218,484
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Mecom
MDS1 and EVI1 complex locus
ISO
DNA:translocation: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29047144 PMID:9044825
RGD:10450608
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29047144
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:SNPs: :677C>T, 1298A>C (human)
RGD
PMID:23107469
RGD:10449419
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Npm1
nucleophosmin 1
ISO
DNA:insertion mutation:cds:c.854_857dupTCTG(mouse)
RGD
PMID:23226219
RGD:11534989
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645 Ensembl chr X:17,739,941...17,751,645
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
RGD
PMID:18829548
RGD:10769354
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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Nqo2
N-ribosyldihydronicotinamide:quinone dehydrogenase 2
ISO
RGD
PMID:12351651
RGD:1331842
NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:21586752
RGD:11535055
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Runx1
RUNX family transcription factor 1
ISO
RGD
PMID:15784726
RGD:11251691
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29047144
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29370077
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Zmym2
zinc finger MYM-type containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22875613
NCBI chr15:31,035,835...31,108,945
Ensembl chr15:31,035,838...31,109,357
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Ccr2
C-C motif chemokine receptor 2
ISO
associated with Leukemia, Myeloid, Acute;protein:increased expression:blood, leukocyte
RGD
PMID:20582977
RGD:8661751
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Kras
KRAS proto-oncogene, GTPase
ISO
associated with Leukemia, Myeloid, Acute;DNA:missense mutation:exon:p.G12C (human)
RGD
PMID:23564351
RGD:11060142
NCBI chr 4:178,185,418...178,218,484
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Pdgfra
platelet derived growth factor receptor alpha
treatment
ISO
RGD
PMID:22348015
RGD:11075098
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia
ClinVar
PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 PMID:30573803 More...
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Asxl1
ASXL transcriptional regulator 1
ISS
MouseDO
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Csf3r
colony stimulating factor 3 receptor
ISO
RGD
PMID:23897249
RGD:10450501
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Cux1
cut-like homeobox 1
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm
ClinVar
PMID:25741868
NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866 Ensembl chr 4:20,107,311...20,425,866
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Ddx41
DEAD-box helicase 41
susceptibility
ISO
ClinVar Annotator: match by term: DDX41-related condition | ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25920683 PMID:26712909 PMID:27133828 PMID:27174803 PMID:27721487 PMID:27795557 PMID:28492532 PMID:28547672 PMID:29365323 PMID:30407884 PMID:30963592 PMID:31256854 PMID:31400013 PMID:31470354 PMID:31484648 PMID:31713024 PMID:32047491 PMID:32054657 PMID:32098966 PMID:32307695 PMID:33332384 PMID:33585199 PMID:33626862 PMID:33850299 PMID:33929502 PMID:34482403 PMID:34492705 PMID:34671111 PMID:35419889 PMID:35443031 PMID:35671390 PMID:35844724 PMID:36322930 PMID:36455200 PMID:36542832 PMID:36672294 PMID:37144604 PMID:37154083 PMID:37199125 PMID:37216690 PMID:37434984 PMID:37506341 PMID:37665752 PMID:37874914 PMID:38016923 More...
NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: :
RGD
PMID:12181402
RGD:10450606
NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992
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Itpkb
inositol-trisphosphate 3-kinase B
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:25741868 PMID:35101336
NCBI chr13:92,069,160...92,164,281
Ensembl chr13:92,069,216...92,162,004
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Jak2
Janus kinase 2
ISS
MouseDO
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:10678181 PMID:23460398 PMID:27069254 PMID:28492532 PMID:29872168 PMID:35101336 More...
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22858860 PMID:23086750 PMID:23734977 PMID:24728327 PMID:24943832 PMID:25741868 PMID:26837699 PMID:28492532 PMID:35101336 More...
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Pdgfra
platelet derived growth factor receptor alpha
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:22703879 PMID:22718859 PMID:24728327 PMID:25741868 PMID:28492532 PMID:35101336 More...
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pdgfrb
platelet derived growth factor receptor beta
ISO ISS
DNA:translocation: :
MouseDO RGD
PMID:12181402
RGD:10450606
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:25741868 PMID:28492532 PMID:35101336
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:25741868 PMID:28492532 PMID:35101336
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tet2
tet methylcytosine dioxygenase 2
ISO
DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human)
RGD
PMID:19564637
RGD:11038680
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Pus1
pseudouridine synthase 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
CTD ClinVar MouseDO
PMID:17056637 PMID:19731322 PMID:25058219 PMID:25741868 PMID:26556812 PMID:28492532 More...
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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Yars2
tyrosyl-tRNA synthetase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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Pus1
pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition
OMIM ClinVar
PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 PMID:15971356 PMID:17056637 PMID:17576681 PMID:18648068 PMID:19731322 PMID:23707380 PMID:25058219 PMID:25227147 PMID:25741868 PMID:26556812 PMID:27374853 PMID:28492532 More...
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Yars2
tyrosyl-tRNA synthetase 2
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 | ClinVar Annotator: match by term: YARS2-related condition
OMIM ClinVar
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 PMID:24344687 PMID:24430573 PMID:25638461 PMID:25741868 PMID:26633545 PMID:26944241 PMID:28492532 PMID:30026338 PMID:33144682 PMID:35393742 More...
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3
ClinVar
PMID:25037980 PMID:27812026 PMID:29350304
NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Abcb1a
ATP binding cassette subfamily B member 1A
severity
ISO
Nasal Type;protein:increased expression:nasal cavity (human)
RGD
PMID:18756548
RGD:8657087
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Cd274
CD274 molecule
disease_progression
ISO
associated with Epstein-Barr Virus Infections
RGD
PMID:27595782
RGD:41412182
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15924153
NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034
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Fas
Fas cell surface death receptor
ISO
DNA:insertion, deletions:cds:multiple (human)
RGD
PMID:12466128
RGD:8662407
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Gpx3
glutathione peroxidase 3
treatment
ISO
associated with ethmoid sinus cancer and Neoplasm Metastasis
RGD
PMID:29496492
RGD:151708712
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705984 PMID:23689514
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:24438193
RGD:150530467
NCBI chr20:49,542,465...49,564,088
Ensembl chr20:47,959,858...47,981,488
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased expression:nasal cavity (human)
RGD
PMID:17225522
RGD:153298933
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Anxa7
annexin A7
ISO
protein:decreased expression:lymph node
RGD
PMID:17708571
RGD:2292654
NCBI chr15:3,821,798...3,849,659
Ensembl chr15:3,821,845...3,849,385
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:22693999
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
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Bcl10
BCL10, immune signaling adaptor
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3287162 PMID:26239085
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl6
BCL6, transcription repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25543051
NCBI chr11:90,358,753...90,382,049
Ensembl chr11:76,854,090...76,877,389
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Bhmt
betaine-homocysteine S-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:12068308 PMID:12960123 PMID:14612909 PMID:14688025 PMID:17603483 PMID:19206169 PMID:23352452 PMID:24033266 PMID:24303953 PMID:24446311 PMID:24920063 PMID:26619011 PMID:27236105 PMID:27276561 PMID:28492532 PMID:29595366 More...
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Cbs
cystathionine beta synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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Ccnd1
cyclin D1
susceptibility
ISO
DNA:snp:exon:c.870G>A (human)
RGD
PMID:25169547
RGD:11353786
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:19636010
RGD:11522746
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:19633198
RGD:151665149
NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625
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Chek2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26506619
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7680712 PMID:11486401 PMID:11732872
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11911406
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:polymorphism:exon:49G>A(human)
RGD
PMID:15114591
RGD:11352244
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Ephx1
epoxide hydrolase 1
ISO
DNA:polymorphism CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11406608 PMID:11406608
RGD:1601063
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Fcgr2a
Fc gamma receptor 2A
disease_progression
ISO
RGD
PMID:25850245
RGD:11040778
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
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Fpgs
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
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Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:25016003
RGD:11352765
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum:
RGD
PMID:7686390
RGD:11520780
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Igf2r
insulin-like growth factor 2 receptor
ISO
protein:increased expression:serum:
RGD
PMID:29940770
RGD:14985218
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Kmt2a
lysine methyltransferase 2A
ISO
RGD
PMID:8361504
RGD:1625285
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Lrrc41
leucine rich repeat containing 41
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
NCBI chr 5:129,554,547...129,575,450
Ensembl chr 5:129,554,547...129,575,449
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Malt1
MALT1 paracaspase
ISO
RGD
PMID:12560219
RGD:1599912
NCBI chr18:61,212,290...61,266,272
Ensembl chr18:58,942,299...58,994,260
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488658
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66A>G(human)
RGD
PMID:15159311
RGD:11531140
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Mtss1
MTSS I-BAR domain containing 1
ISS
OMIM:605027
MouseDO
NCBI chr 7:90,488,751...90,628,007
Ensembl chr 7:90,488,754...90,627,968
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutation:cds:p.Q192R (human)
RGD
PMID:12139735
RGD:11553822
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Prf1
perforin 1
ISO
ClinVar Annotator: match by term: Lymphoma, Non-Hodgkin, Familial | ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1156555 PMID:10583959 PMID:11841437 PMID:14757862 PMID:16860143 PMID:17601962 PMID:17873118 PMID:21152410 PMID:21674762 PMID:22437823 PMID:23255033 PMID:24033266 PMID:24309606 PMID:24916509 PMID:25741868 PMID:28492532 PMID:29239076 PMID:29357941 PMID:31395954 PMID:32542393 PMID:33570715 PMID:34083498 PMID:35835228 PMID:36706356 More...
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Rad54b
RAD54 homolog B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Non-Hodgkin lymphoma
OMIM CTD ClinVar
PMID:10362364 PMID:28492532
NCBI chr 5:25,032,112...25,104,630
Ensembl chr 5:25,032,066...25,104,616
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Rad54l
RAD54 like
ISO
ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial | ClinVar Annotator: match by term: Non-Hodgkin lymphoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10362365 PMID:25741868
NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:129,575,378...129,605,070
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22096508
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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S1pr2
sphingosine-1-phosphate receptor 2
ISS
OMIM:605027
MouseDO
NCBI chr 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574
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Shmt1
serine hydroxymethyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tmem260
transmembrane protein 260
disease_progression
ISO
DNA:SNP: 3'UTR:rs4901706 (human)
RGD
PMID:24831772
RGD:155882447
NCBI chr15:21,734,119...21,804,049
Ensembl chr15:21,734,151...21,806,801
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:1565144 PMID:10629033 PMID:12826609 PMID:16007150 PMID:17606709 PMID:20128691 PMID:21343334 PMID:25741868 PMID:28492532 PMID:29955864 PMID:29979965 PMID:30224644 PMID:32191290 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16365025
NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 PMID:19387008 PMID:19571318 PMID:19620960 PMID:19901108 PMID:20543203 PMID:20595524 PMID:20619386 PMID:20619389 PMID:20694012 PMID:20951944 PMID:20955399 PMID:21828135 PMID:21901340 PMID:22190897 PMID:22246246 PMID:22733026 PMID:22817890 PMID:23010802 PMID:23690417 PMID:23696637 PMID:23823657 PMID:24033266 PMID:24451042 PMID:24458550 PMID:24463883 PMID:24493670 PMID:24728327 PMID:24801577 PMID:24803665 PMID:24896146 PMID:25178484 PMID:25224413 PMID:25283271 PMID:25358541 PMID:25426838 PMID:25533962 PMID:25731833 PMID:25741868 PMID:25939664 PMID:25952305 PMID:26457648 PMID:26580448 PMID:26676746 PMID:26847329 PMID:27069254 PMID:27609087 PMID:27784745 PMID:27941868 PMID:28343148 PMID:28414188 PMID:28492532 PMID:28589114 PMID:28957739 PMID:29177441 PMID:29296819 PMID:31101757 PMID:31333075 PMID:31568572 PMID:31664448 PMID:31935506 PMID:31970404 PMID:32533790 PMID:32933826 PMID:33318624 PMID:33337535 PMID:33550024 PMID:33627783 PMID:35858754 PMID:37216690 PMID:38613168 More...
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
ClinVar
PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:14991917 PMID:15121796 PMID:15389709 PMID:15520399 PMID:16053901 PMID:16172598 PMID:16358218 PMID:16377799 PMID:16638574 PMID:16679933 PMID:17020470 PMID:18372317 PMID:18849586 PMID:19725129 PMID:19768645 PMID:20301557 PMID:20308328 PMID:21339643 PMID:21747628 PMID:22681964 PMID:22822385 PMID:23673659 PMID:24033266 PMID:24037001 PMID:24401936 PMID:24775816 PMID:24820750 PMID:24935154 PMID:25731833 PMID:25741868 PMID:25917897 PMID:26337637 PMID:26377839 PMID:26467025 PMID:26918529 PMID:28483241 PMID:28492532 PMID:29276006 PMID:29907801 PMID:30311386 PMID:30692697 PMID:30732632 PMID:31446693 PMID:31722741 PMID:32164556 PMID:33258288 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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C3
complement C3
ISO
protein:increased processing:erythrocyte
RGD
PMID:6915939
RGD:11040769
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C5
complement C5
ISO
ClinVar Annotator: match by term: Eculizumab, poor response to
OMIM ClinVar
PMID:7730648 PMID:19414197 PMID:23371790 PMID:24521109 PMID:25534848 PMID:25741868 PMID:27026170 PMID:28492532 More...
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Cxcr4
C-X-C motif chemokine receptor 4
treatment
ISO
RGD
PMID:22206707
RGD:11352266
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISO
associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human) ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 PMID:9233558 PMID:9787183 PMID:10220445 PMID:15720958 PMID:16767100 PMID:12424196 More...
RGD:11087560
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25417052
NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphism, haplotype
RGD
PMID:12070003
RGD:11041765
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism, haplotype
RGD
PMID:12070003
RGD:11041765
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISO
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
OMIM ClinVar
PMID:2915993 PMID:24706016 PMID:25741868 PMID:28492532 PMID:29159939 PMID:29656098 PMID:31704190 PMID:32176464 PMID:32452540 PMID:34355501 More...
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
ClinVar
PMID:25741868
NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2
OMIM ClinVar
PMID:23733340 PMID:25741868 PMID:28492532
NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Fip1l1
factor interacting with PAPOLA and CPSF1
ISO
DNA:gene fusion
RGD
PMID:22806436
RGD:11075089
NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708
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Pdgfra
platelet derived growth factor receptor alpha
ISO
DNA:gene fusion
RGD
PMID:22806436
RGD:11075089
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
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Cd1d1
CD1d1 molecule
ISO
RGD
PMID:27069116
RGD:11534789
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chr20:44,322,635...44,514,498
Ensembl chr20:42,766,369...42,959,911
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Irf4
interferon regulatory factor 4
ISO
DNA:translocation
RGD
PMID:18987657
RGD:11526155
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28659334
NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:79,372,119...79,407,360
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Rc3h1
ring finger and CCCH-type domains 1
ISS
MouseDO
NCBI chr13:75,707,098...75,779,114
Ensembl chr13:73,173,946...73,238,839
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Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Bcl2l1
Bcl2-like 1
severity
ISO
RGD
PMID:15725478
RGD:11353872
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:15001635 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19571295 PMID:20818844 PMID:20823850 PMID:21107320 PMID:21107323 PMID:22039425 PMID:22113612 PMID:22281684 PMID:23302800 PMID:23685455 PMID:24512911 PMID:24670642 PMID:24717435 PMID:25079330 PMID:25741868 PMID:25950823 PMID:28492532 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16501574 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18000976 PMID:18642369 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:22045636 PMID:23972473 PMID:24075385 PMID:24864036 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 PMID:28492532 More...
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:15696205 PMID:25741868
NCBI chr 4:178,185,418...178,218,484
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Lig4
DNA ligase 4
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:27063650 PMID:27612988 PMID:28492532 More...
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 PMID:2046748 PMID:7732013 PMID:7887414 PMID:7969167 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8423216 PMID:8479749 PMID:9047394 PMID:9242456 PMID:9399838 PMID:9482117 PMID:9546439 PMID:9704930 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11904319 PMID:12672316 PMID:12826609 PMID:14743206 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18685109 PMID:19367569 PMID:19454241 PMID:19556618 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22666503 PMID:22811390 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:23612969 PMID:24501221 PMID:24677579 PMID:24810334 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28573494 PMID:28873162 PMID:29324801 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31212162 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:36988593 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Aicda
activation-induced cytidine deaminase
treatment
ISO
RGD
PMID:20404277
RGD:11039454
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Bcl2
BCL2, apoptosis regulator
susceptibility
ISO
human gene in a mouse model
RGD
PMID:14695177
RGD:11526108
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
RGD
PMID:11113205
RGD:11251742
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Il10
interleukin 10
ISO
RGD
PMID:26140236
RGD:11049175
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:2022919
RGD:10449448
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Polycythemia rubra vera
ClinVar
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Bcl2l1
Bcl2-like 1
ISO
protein:increased expression:bone marrow, erythroid cell (human)
RGD
PMID:9475763
RGD:11353849
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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Cd36
CD36 molecule
ISO
protein:increased expression:platelet, cell surface
RGD
PMID:8555064
RGD:11041099
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Elane
elastase, neutrophil expressed
ISO IMP
protein:increased expression:plasma:
RGD
PMID:18768782 PMID:12186827
RGD:10450556 , RGD:10450557
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Epor
erythropoietin receptor
ISO
mRNA:decreased expression:blood cell:
RGD
PMID:9207443
RGD:11041603
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:8569275
RGD:11059504
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
RGD
PMID:22018952
RGD:10450875
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Hba-a2
hemoglobin alpha, adult chain 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1634355
NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392 Ensembl chr10:15,307,815...15,338,392
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Hbb
hemoglobin subunit beta
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF
CTD ClinVar
PMID:2816924 PMID:5773089 PMID:11300351 PMID:19429541 PMID:26467025 PMID:31553106 More...
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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Hfe
homeostatic iron regulator
susceptibility no_association
ISO
DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human) DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)
RGD
PMID:19258483 PMID:19258483
RGD:10755491 , RGD:10755491
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Polycythemia rubra vera | ClinVar Annotator: match by term: Polycythemia vera
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Jak2
Janus kinase 2
ISO ISS
ClinVar Annotator: match by term: Polycythemia rubra vera | ClinVar Annotator: match by term: Polycythemia vera OMIM:263300 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16484586 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17267906 PMID:17989398 PMID:18256599 PMID:18717827 PMID:19036091 PMID:19074595 PMID:19154659 PMID:19287382 PMID:19287384 PMID:19293426 PMID:20160369 PMID:20703299 PMID:21942426 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 PMID:15781101 More...
RGD:1627655
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754746
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr12:18,735,088...18,872,045
Ensembl chr12:13,621,087...13,758,112
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Ccl20
C-C motif chemokine ligand 20
disease_progression
ISO
mRNA, protein:increased expression:skin, serum
RGD
PMID:22048239
RGD:7483601
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccl26
C-C motif chemokine ligand 26
disease_progression
ISO
mRNA:increased expression:skin (human)
RGD
PMID:20505746
RGD:11087556
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Ccr6
C-C motif chemokine receptor 6
ISO
mRNA, protein:increased expression:skin
RGD
PMID:22048239
RGD:7483601
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916 PMID:26258847
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:deletion (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26192916 PMID:20118908
RGD:8552306
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
disease_progression
ISO
DNA:deletion (human)
RGD
PMID:20118908
RGD:8552306
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Ctcf
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Il18
interleukin 18
ISO
protein:increased expression:plasma
RGD
PMID:16428475
RGD:8655925
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il4
interleukin 4
ISO
mRNA:increased expression:skin
RGD
PMID:7963654
RGD:7829823
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Irf4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754746
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Mir22
microRNA 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26244872
NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
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Nfkb2
nuclear factor kappa B subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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Prkcq
protein kinase C, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
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Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Zeb1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
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Abtb1
ankyrin repeat and BTB domain containing 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620
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Acad11
acyl-CoA dehydrogenase family, member 11
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
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Acad9
acyl-CoA dehydrogenase family, member 9
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
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Ackr4
atypical chemokine receptor 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617
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Acp3
acid phosphatase 3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:113,784,372...113,833,033
Ensembl chr 8:104,905,586...104,954,236
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Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Aldh1l1
aldehyde dehydrogenase 1 family, member L1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
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Amotl2
angiomotin like 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,303,368...103,319,161
Ensembl chr 8:103,302,992...103,318,910
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Anapc13
anaphase promoting complex subunit 13
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,205,520...103,213,936
Ensembl chr 8:103,205,520...103,213,936
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Aste1
asteroid homolog 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430
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Atp2c1
ATPase secretory pathway Ca2+ transporting 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
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Bfsp2
beaded filament structural protein 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
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C4h3orf22
similar to human chromosome 3 open reading frame 22
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,817,681...122,822,175
Ensembl chr 4:122,817,681...122,822,175
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Ccdc14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
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Cd86
CD86 molecule
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdv3
carnitine deficiency-associated gene expressed in ventricle 3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,934,006...103,947,173
Ensembl chr 8:103,933,996...103,947,192
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Cep63
centrosomal protein 63
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
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Cfap100
cilia and flagella associated protein 100
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,914,693...122,938,994
Ensembl chr 4:122,914,698...122,938,580
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Cfap92
cilia and flagella associated protein 92
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
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Chchd6
coiled-coil-helix-coiled-coil-helix domain containing 6
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:121,803,501...122,024,209
Ensembl chr 4:121,792,717...122,024,216
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Chst13
carbohydrate sulfotransferase 13
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,824,022...122,837,940
Ensembl chr 4:122,824,022...122,838,019
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Cnbp
CCHC-type zinc finger, nucleic acid binding protein
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637
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Col6a5
collagen type VI alpha 5 chain
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,483,806...106,584,114
Ensembl chr 8:106,483,799...106,584,113
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Col6a6
collagen type VI alpha 6 chain
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,318,010...106,473,419
Ensembl chr 8:106,306,422...106,473,472
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Copg1
COPI coat complex subunit gamma 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616
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Cpne4
copine 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,177,376...105,653,075
Ensembl chr 8:105,177,376...105,653,068
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Csta
cystatin A
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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Dnajb8
DnaJ heat shock protein family (Hsp40) member B8
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:2322343 PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:29146883 PMID:29724903 PMID:31710708 More...
NCBI chr 4:120,681,918...120,685,108
Ensembl chr 4:120,681,926...120,687,552
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Dnajc13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
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Dtx3l
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:78,320,225...78,329,837
Ensembl chr11:64,814,926...64,824,538
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Eaf2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
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Eefsec
eukaryotic elongation factor, selenocysteine-tRNA-specific
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779
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Efcab12
EF-hand calcium binding domain 12
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560
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Efcc1
EF-hand and coiled-coil domain containing 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516
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Ephb1
Eph receptor B1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:102,507,549...102,944,839
Ensembl chr 8:102,507,549...102,944,839
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Fam162a
family with sequence similarity 162, member A
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239
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Fbxo40
F-box protein 40
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:77,299,826...77,318,086
Ensembl chr11:63,794,624...63,812,697
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Fstl1
follistatin-like 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
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Gata2
GATA binding protein 2
susceptibility
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar OMIM
PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18250304 PMID:19449416 PMID:20040766 PMID:20803646 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21816832 PMID:21892158 PMID:21892162 PMID:21956389 PMID:22147895 PMID:22271902 PMID:22430350 PMID:22533337 PMID:22649106 PMID:22814295 PMID:22996659 PMID:23223431 PMID:23365458 PMID:23443460 PMID:23502222 PMID:23560626 PMID:23563236 PMID:23728141 PMID:24033149 PMID:24033266 PMID:24077845 PMID:24167460 PMID:24227816 PMID:24266605 PMID:24345756 PMID:24359037 PMID:24514424 PMID:24578498 PMID:24728327 PMID:24754962 PMID:24782121 PMID:25239263 PMID:25241285 PMID:25326637 PMID:25359990 PMID:25619630 PMID:25624456 PMID:25676417 PMID:25741868 PMID:25879889 PMID:25955867 PMID:26022708 PMID:26124496 PMID:26214525 PMID:26264606 PMID:26445707 PMID:26492932 PMID:26660446 PMID:26702063 PMID:26710799 PMID:26716079 PMID:26748574 PMID:26767875 PMID:26812071 PMID:27013649 PMID:27069254 PMID:27232273 PMID:27266944 PMID:27276561 PMID:27288520 PMID:27375010 PMID:27389056 PMID:27416790 PMID:27418648 PMID:27577878 PMID:27680514 PMID:27799394 PMID:27876779 PMID:27894982 PMID:27924436 PMID:28066994 PMID:28104920 PMID:28126493 PMID:28209719 PMID:28234738 PMID:28259234 PMID:28271814 PMID:28373026 PMID:28440875 PMID:28485484 PMID:28492532 PMID:28602958 PMID:28642594 PMID:28654364 PMID:28747912 PMID:28825694 PMID:28873162 PMID:28947108 PMID:29146883 PMID:29146900 PMID:29156497 PMID:29178327 PMID:29189513 PMID:29230432 PMID:29279357 PMID:29365323 PMID:29588856 PMID:29680795 PMID:29724903 PMID:29797310 PMID:29882021 PMID:29906362 PMID:29947977 PMID:30030275 PMID:30101490 PMID:30190467 PMID:30280306 PMID:30564229 PMID:30578959 PMID:30620726 PMID:30697248 PMID:30802360 PMID:30894283 PMID:31035956 PMID:31106410 PMID:31203817 PMID:31245276 PMID:31256854 PMID:31309983 PMID:31340620 PMID:31350183 PMID:31710708 PMID:31732620 PMID:31753093 PMID:31785092 PMID:31911633 PMID:31958074 PMID:32088370 PMID:32098966 PMID:32135276 PMID:32488879 PMID:32497548 PMID:32555368 PMID:32682923 PMID:32865708 PMID:32888943 PMID:32914014 PMID:32960960 PMID:33363905 PMID:33370941 PMID:33417088 PMID:33510405 PMID:33560389 PMID:33684095 PMID:33715335 PMID:33759087 PMID:33957466 PMID:34051752 PMID:34387894 PMID:34469508 PMID:34529785 PMID:34619682 PMID:34670919 PMID:34893945 PMID:35181392 PMID:35753512 PMID:36357187 More...
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Golgb1
golgin B1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
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Gp9
glycoprotein IX (platelet)
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110
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Gtf2e1
general transcription factor IIE subunit 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,182,073...63,215,349
Ensembl chr11:63,182,349...63,213,942
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H1f10
H1.10 linker histone
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,440,515...120,441,578
Ensembl chr 4:120,440,870...120,441,448
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H1f8
H1.8 linker histone
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254
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Hacd2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:79,175,470...79,268,975
Ensembl chr11:65,670,281...65,762,889
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Hcls1
hematopoietic cell specific Lyn substrate 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014
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Heg1
heart development protein with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
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Hgd
homogentisate 1, 2-dioxygenase
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323
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Hmces
5-hydroxymethylcytosine binding, ES cell specific
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,392,812...120,415,616
Ensembl chr 4:120,366,542...120,415,616
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Hspbap1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756
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Ift122
intraflagellar transport 122
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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Il20rb
interleukin 20 receptor subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:100,979,085...101,010,829
Ensembl chr 8:100,980,383...101,009,942
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Ildr1
immunoglobulin-like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
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Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Isy1
ISY1 splicing factor homolog
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188
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Itgb5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:80,333,588...80,449,373
Ensembl chr11:66,829,285...66,944,472
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Kalrn
kalirin, RhoGEF kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
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Kbtbd12
kelch repeat and BTB domain containing 12
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443
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Klf15
KLF transcription factor 15
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374
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Kpna1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623
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Ky
kyphoscoliosis peptidase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024
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Mbd4
methyl-CpG binding domain 4 DNA glycosylase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
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Mcm2
minichromosome maintenance complex component 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:122,903,679...122,918,205
Ensembl chr 4:121,346,434...121,360,847
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Mgll
monoglyceride lipase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179
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Mix23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000
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Mrpl3
mitochondrial ribosomal protein L3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544
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Msl2
MSL complex subunit 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:110,555,579...110,642,096
Ensembl chr 8:101,676,765...101,763,833
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Muc13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nck1
NCK adaptor protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
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Ndufb4
NADH:ubiquinone oxidoreductase subunit B4
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,063,723...63,070,426
Ensembl chr11:63,063,795...63,070,425
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Nek11
NIMA-related kinase 11
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,767,230...106,026,676
Ensembl chr 8:105,770,548...106,026,676
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Nudt16
nudix hydrolase 16
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998
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Osbpl11
oxysterol binding protein-like 11
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
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Parp14
poly (ADP-ribose) polymerase family, member 14
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
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Parp9
poly (ADP-ribose) polymerase family, member 9
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455
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Pccb
propionyl-CoA carboxylase subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
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Pdia5
protein disulfide isomerase family A, member 5
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084
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Pik3r4
phosphoinositide-3-kinase, regulatory subunit 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,267,908...106,316,585
Ensembl chr 8:106,267,954...106,316,584
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Plxna1
plexin A1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,737,934...121,782,901
Ensembl chr 4:121,737,945...122,024,196
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Plxnd1
plexin D1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
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Podxl2
podocalyxin-like 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,306,224...121,338,070
Ensembl chr 4:121,306,224...121,338,112
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Polq
DNA polymerase theta
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878
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Ppp2r3a
protein phosphatase 2, regulatory subunit B'', alpha
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,703,512...101,841,530
Ensembl chr 8:101,704,778...101,841,502
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Rab43
RAB43, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,249,650...120,269,174
Ensembl chr 4:120,249,879...120,269,174
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Rab6b
RAB6B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,695,328...103,764,023
Ensembl chr 8:103,695,631...103,805,732
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Rab7a
RAB7A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
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Rabl3
RAB, member of RAS oncogene family-like 3
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,153,281...63,182,240
Ensembl chr11:63,152,792...63,182,671
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Rho
rhodopsin
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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Ropn1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
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Rpn1
ribophorin I
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chr 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069
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Ruvbl1
RuvB-like AAA ATPase 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
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Ryk
receptor-like tyrosine kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,419,338...103,492,083
Ensembl chr 8:103,419,275...103,491,698
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Sec22a
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319
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Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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Sema5b
semaphorin 5B
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311
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Slc12a8
solute carrier family 12, member 8
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
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Slc15a2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225
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Slc35g2
solute carrier family 35, member G2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,085,579...101,113,339
Ensembl chr 8:101,085,545...101,113,349
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Slc41a3
solute carrier family 41, member 3
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:123,109,555...123,154,766
Ensembl chr 4:123,112,748...123,154,766
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Slc49a4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
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Slco2a1
solute carrier organic anion transporter family, member 2a1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546
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Snx4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
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Srprb
SRP receptor subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,768,685...103,782,632
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Stag1
STAG1 cohesin complex component
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677
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Stxbp5l
syntaxin binding protein 5L
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,334,667...63,654,270
Ensembl chr11:63,334,667...63,657,014
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Tf
transferrin
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Tmcc1
transmembrane and coiled-coil domain family 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:149,069,252...149,239,585
Ensembl chr 4:149,069,260...149,239,620
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Tmem108
transmembrane protein 108
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094
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Topbp1
DNA topoisomerase II binding protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
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Tpra1
transmembrane protein adipocyte associated 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269
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Trh
thyrotropin releasing hormone
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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Txnrd3
thioredoxin reductase 3
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491
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Uba5
ubiquitin-like modifier activating enzyme 5
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
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Umps
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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Uroc1
urocanate hydratase 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
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Wdr5b
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807
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Zfp148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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Zxdc
ZXD family zinc finger C
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,882,389...122,914,486
Ensembl chr 4:122,882,336...122,916,496
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Birc5
baculoviral IAP repeat-containing 5
ISO
RGD
PMID:18426652
RGD:11038658
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
ISO
protein:increased expression:serum:
RGD
PMID:10214861
RGD:11049479
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Hfe
homeostatic iron regulator
no_association
ISO
associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human) associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)
RGD
PMID:17654685 PMID:17654685
RGD:10755539 , RGD:10755539
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Tcn2
transcobalamin 2
ISO
protein:increased expression::
RGD
PMID:1059479
RGD:11060122
NCBI chr14:83,036,935...83,052,187
Ensembl chr14:78,813,343...78,828,489
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:18426652
RGD:11038658
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10870480
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ybx1
Y box binding protein 1
ISO
RGD
PMID:14604279
RGD:1580637
NCBI chr 5:132,882,137...132,898,885
Ensembl chr 5:132,882,145...132,898,862
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Birc5
baculoviral IAP repeat-containing 5
ISO
RGD
PMID:18426652
RGD:11038658
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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C3
complement C3
disease_progression
ISO
RGD
PMID:9741227
RGD:11041158
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cfb
complement factor B
disease_progression
ISO
RGD
PMID:9741227
RGD:11041158
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:18426652
RGD:11038658
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
disease_progression
ISO
RGD
PMID:25200248
RGD:11038682
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:1831824
RGD:7794711
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:16096327 PMID:16096327
RGD:11522758
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: Sezary syndrome
ClinVar
PMID:9989495
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Brd9
bromodomain containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016
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Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667 PMID:26551670
NCBI chr12:18,735,088...18,872,045
Ensembl chr12:13,621,087...13,758,112
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Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Chd3
chromodomain helicase DNA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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Il2rg
interleukin 2 receptor subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
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Kmt2c
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
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Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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Prkg1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
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Rps6ka1
ribosomal protein S6 kinase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:16403914
RGD:8661723
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667 PMID:26551670
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Zeb1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
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Abcb7
ATP binding cassette subfamily B member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16892088 PMID:18637800 PMID:18398482
RGD:11038732
NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
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Alad
aminolevulinate dehydratase
ISO
protein:decreased activity:kidney, liver, spleen
RGD
PMID:5891055
RGD:12904678
NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:75,961,993...75,972,474
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Alas2
5'-aminolevulinate synthase 2
susceptibility
ISO
DNA:transversion:cds:p.F165L (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16716198 PMID:16892088 PMID:7949148
RGD:1599037
NCBI chr X:22,890,650...22,914,046
Ensembl chr X:19,463,171...19,486,519
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Calr
calreticulin
ISO
DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)
RGD
PMID:24325359
RGD:11352763
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Gdf15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19036111
NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055
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Glrx5
glutaredoxin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18637800
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia
ClinVar
PMID:9389715 PMID:32906214
NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Pus1
pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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Slc25a38
solute carrier family 25, member 38
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19412178
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16910769 PMID:21326867
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Tfrc
transferrin receptor
ISO
mRNA,protein:increased expression:erythroblast:
RGD
PMID:21326867
RGD:11062136
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Alas2
5'-aminolevulinate synthase 2
onset
ISO
ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R452H, R452C, K156E(human) DNA:mutation:exon: 1236 G> A, p.C395Y (human) DNA:mutations:exons:p.K299Q,A172T(human)
OMIM ClinVar CTD RGD
PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 PMID:9488633 PMID:9858242 PMID:10029606 PMID:10444183 PMID:11110715 PMID:12031592 PMID:12531813 PMID:12663458 PMID:16121195 PMID:16446107 PMID:18637800 PMID:18823803 PMID:20848343 PMID:21309041 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23263862 PMID:23315997 PMID:23409301 PMID:23935018 PMID:24166784 PMID:25741868 PMID:28123038 PMID:28492532 PMID:28840292 PMID:30678654 PMID:31338833 PMID:32297424 PMID:34781359 PMID:35093382 PMID:36135330 PMID:21252495 PMID:11110715 PMID:7560104 More...
RGD:11035244 , RGD:11035243 , RGD:11035241
NCBI chr X:22,890,650...22,914,046
Ensembl chr X:19,463,171...19,486,519
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Apex2
apurinic/apyrimidinic endodeoxyribonuclease 2
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar
NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439
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Slc25a38
solute carrier family 25, member 38
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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Hscb
HscB mitochondrial iron-sulfur cluster co-chaperone
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 5
OMIM ClinVar
PMID:25741868 PMID:32634119
NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909
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Trnt1
tRNA nucleotidyl transferase 1
ISO
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
OMIM ClinVar
PMID:2649490 PMID:3333257 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25193871 PMID:25652405 PMID:25741868 PMID:26494905 PMID:27317422 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28390992 PMID:28492532 PMID:28600779 PMID:29055896 PMID:29358286 PMID:29454993 PMID:29610179 PMID:30758723 PMID:31019026 PMID:31338833 PMID:31664448 PMID:31980526 PMID:32371413 PMID:32592741 PMID:33332575 PMID:33493307 PMID:33646446 PMID:33936027 PMID:34510712 PMID:35984545 PMID:36729249 More...
NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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Cd79b
CD79b molecule
ISO
protein:decreased expression:blood, B cell (human)
RGD
PMID:10329919
RGD:11531139
NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625
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Havcr2
hepatitis A virus cellular receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HAVCR2-related condition | ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma
CTD ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:30374066 PMID:30429576 PMID:30792187 PMID:32005988 PMID:34398459 PMID:34398505 PMID:34426522 PMID:36171125 PMID:36212426 PMID:37062931 More...
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20019844
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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Akr1c3
aldo-keto reductase family 1, member C3
treatment
ISO
RGD
PMID:26116659
RGD:11541128
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Bax
BCL2 associated X, apoptosis regulator
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9531611
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9989495
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Bcl11b
BCL11 transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Card11
caspase recruitment domain family, member 11
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25384343
RGD:11100039
NCBI chr12:18,735,088...18,872,045
Ensembl chr12:13,621,087...13,758,112
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Ccnd3
cyclin D3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:deletion, missense, nonsense mutations:cds:
RGD
PMID:16407836 PMID:8637233 PMID:19759355 PMID:17507663 PMID:23178376
RGD:11251741 , RGD:11251776 , RGD:11251774 , RGD:11251765 , RGD:11251744
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
disease_progression
ISO
RGD
PMID:17507663 PMID:16407836
RGD:11251765 , RGD:11251741
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Cdkn2a_v2
cyclin-dependent kinase inhibitor 2A, variant 2
disease_progression
ISO
RGD
PMID:19759355 PMID:16407836
RGD:11251774 , RGD:11251741
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Cnot3
CCR4-NOT transcription complex, subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
NCBI chr 1:65,555,924...65,572,167
Ensembl chr 1:65,555,924...65,572,167
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Csf3r
colony stimulating factor 3 receptor
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
PMID:23604229 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30967555 PMID:31697825 More...
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Ctcf
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Cxcr4
C-X-C motif chemokine receptor 4
treatment
ISO
RGD
PMID:26931577
RGD:11352292
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Dnmt3a
DNA methyltransferase 3 alpha
disease_progression susceptibility
ISO
DNA:mutations: : ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human)
ClinVar RGD
PMID:23341344 PMID:26072070
RGD:9589073 , RGD:11041131
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
RGD
PMID:22431509
RGD:10755340
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Hmga1
high mobility group AT-hook 1
ISS
MouseDO
NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
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Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21892159
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Jak1
Janus kinase 1
ISO
DNA:missense mutation: :c.1972G>T (p.V658F) (human)
RGD
PMID:18559588
RGD:18936996
NCBI chr 5:120,895,606...121,004,207
Ensembl chr 5:115,780,248...115,888,926
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Jak3
Janus kinase 3
ISO
RGD
PMID:25193870
RGD:11531122
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kras
KRAS proto-oncogene, GTPase
ISO
DNA:missense mutation: :p.G12D (mouse)
RGD
PMID:23673656
RGD:11060136
NCBI chr 4:178,185,418...178,218,484
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Lmo1
LIM domain only 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:3259177 PMID:19246562
NCBI chr 1:163,132,338...163,168,521
Ensembl chr 1:163,132,339...163,168,522
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Lmo2
LIM domain only 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:19246562 PMID:24394663
NCBI chr 3:90,355,234...90,377,970
Ensembl chr 3:90,365,883...90,377,953
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Lyl1
LYL1, basic helix-loop-helix family member
ISO
OMIM
NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myb
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MYB-related condition
CTD ClinVar
PMID:17435759 PMID:28492532 PMID:28671688
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Nbn
nibrin
ISS
MouseDO
NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:29,459,457...29,494,150
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:19246562 PMID:19318552 PMID:21498710 PMID:24394663 PMID:25585350 PMID:28671688 More...
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nup98
nucleoporin 98 and 96 precursor
ISO
DNA:translocation:cds: (human)
RGD
PMID:10477737
RGD:9693698
NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
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Pdgfra
platelet derived growth factor receptor alpha
ISO
RGD
PMID:24486648
RGD:11075087
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Phf6
PHD finger protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20228800
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
PMID:11992261 PMID:12161469 PMID:15240615 PMID:16358218 PMID:17020470 PMID:17339163 PMID:18470943 PMID:18678287 PMID:19020799 PMID:21106241 PMID:21784453 PMID:21901340 PMID:22681964 PMID:23321623 PMID:24183200 PMID:25741868 PMID:27030275 PMID:28492532 PMID:30732632 PMID:30896080 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ptpn2
protein tyrosine phosphatase, non-receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20473312
NCBI chr18:61,229,012...61,294,662
Ensembl chr18:61,229,014...61,294,627
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Rpl10
ribosomal protein L10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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Rpl11
ribosomal protein L11
ISO
DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human)
RGD
PMID:23377281
RGD:11535972
NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
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Rpl5
ribosomal protein L5
ISO
DNA:snps, insertion, deletion:cds:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23263491 PMID:23263491
RGD:11535135
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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Runx1
RUNX family transcription factor 1
disease_progression
ISO
RGD
PMID:16051740 PMID:21828118
RGD:11251682 , RGD:11251708
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975
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Spi1
Spi-1 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671687
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chr 5:128,586,776...128,600,976
Ensembl chr 5:128,587,701...128,600,976
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Tcl1a
Tcl1 family Akt coactivator A
ISO
mRNA:increased expression:peripheral blood lymphocyte (human)
RGD
PMID:10077617
RGD:1599360
NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Tlx1
T-cell leukemia, homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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Zfp36l2
zinc finger protein 36, C3H type-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 6:10,490,032...10,494,073
Ensembl chr 6:10,490,032...10,494,064
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Cntn2
contactin 2
ISS
MouseDO
NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887
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Zeb2
zinc finger E-box binding homeobox 2
ISS
MouseDO
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916 PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Tcl1a
Tcl1 family Akt coactivator A
ISO
OMIM
NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Aicda
activation-induced cytidine deaminase
ISO
RGD
PMID:20357822
RGD:11039456
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25658812
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Asxl3
ASXL transcriptional regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
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Bcl6
BCL6, transcription repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15375218
NCBI chr11:90,358,753...90,382,049
Ensembl chr11:76,854,090...76,877,389
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Cbx7
chromobox 7
ISO
RGD
PMID:17374722
RGD:11352707
NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:111,460,656...111,477,973
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:20369488 PMID:16462758
RGD:8547768 , RGD:8662844
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Egr1
early growth response 1
ISO
RGD
PMID:17420284
RGD:5131859
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:19506298
RGD:11352666
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Ier3
immediate early response 3
ISO
human gene in a mouse model
RGD
PMID:14534530
RGD:1331843
NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583
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Il13
interleukin 13
ISO
RGD
PMID:19951958
RGD:8549563
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra2
interleukin 13 receptor subunit alpha 2
treatment
ISO
RGD
PMID:19951958
RGD:8549563
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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Il17d
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chr15:31,671,337...31,688,833
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Jak3
Janus kinase 3
treatment
ISO
RGD
PMID:24153015
RGD:11531129
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kdm1a
lysine demethylase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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Kdm2b
lysine demethylase 2B
IAGP
DNA:insertions:promoter:multiple (rat)
RGD
PMID:18250326
RGD:9588252
NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355
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Kdm4c
lysine demethylase 4C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
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Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255338
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24584070
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Runx1
RUNX family transcription factor 1
disease_progression
ISO
RGD
PMID:12499254
RGD:11251707
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Tmem260
transmembrane protein 260
disease_progression
ISO
DNA:SNP: 3'UTR:rs4901706 (human)
RGD
PMID:24831772
RGD:155882447
NCBI chr15:21,734,119...21,804,049
Ensembl chr15:21,734,151...21,806,801
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26192917 PMID:29438700 PMID:20369488
RGD:8547768
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: T-cell prolymphocytic leukemia
ClinVar
PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9150358 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9463314 PMID:9537233 PMID:9892178 PMID:10817650 PMID:11382771 PMID:11805335 PMID:11830610 PMID:12072552 PMID:12195425 PMID:12552559 PMID:12969974 PMID:14562025 PMID:16652348 PMID:16832357 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:20301790 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21933854 PMID:22529920 PMID:22585167 PMID:22649200 PMID:23807571 PMID:24088041 PMID:24733792 PMID:25186627 PMID:25614872 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26556299 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28492532 PMID:28779002 PMID:28873162 PMID:29719442 PMID:29915382 PMID:29958926 PMID:30549301 PMID:31447099 PMID:31948886 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32853339 PMID:33436325 PMID:33439686 PMID:33471991 PMID:33509806 PMID:34117267 PMID:36094610 More...
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: T-cell prolymphocytic leukemia
ClinVar
PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9150358 PMID:9288106 PMID:9443866 PMID:9463314 PMID:9537233 PMID:9892178 PMID:10817650 PMID:11382771 PMID:11805335 PMID:11830610 PMID:12072552 PMID:12195425 PMID:12552559 PMID:12969974 PMID:14562025 PMID:16652348 PMID:16832357 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:20301790 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21933854 PMID:22529920 PMID:22585167 PMID:22649200 PMID:24088041 PMID:24733792 PMID:25186627 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26556299 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28492532 PMID:28779002 PMID:28873162 PMID:29719442 PMID:29915382 PMID:29958926 PMID:30549301 PMID:31447099 PMID:31948886 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32853339 PMID:33436325 PMID:33439686 PMID:33471991 PMID:33509806 PMID:34117267 PMID:36094610 More...
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Jak3
Janus kinase 3
ISO
DNA:missense mutations:exon:pM511I, p.R657Q (human)
RGD
PMID:24446122
RGD:11531125
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human)
RGD
PMID:28868954
RGD:150524335
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415
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Bcl2l10
Bcl2-like 10
susceptibility
ISO
DNA:SNP:cds:p.Leu21Arg rs2231292)(human)
RGD
PMID:24047476
RGD:11058140
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
associated with neoplasms;
RGD
PMID:17367411
RGD:10450873
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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Klf1
KLF transcription factor 1
ISO
RGD
PMID:12417757
RGD:10769345
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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Runx1
RUNX family transcription factor 1
ISO
DNA:translocations:intron:multiple
RGD
PMID:9763573
RGD:11251709
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic
OMIM ClinVar
PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 PMID:15269348 PMID:16199547 PMID:16470591 PMID:16834459 PMID:16868251 PMID:17666371 PMID:18090929 PMID:18422784 PMID:18451306 PMID:18769448 PMID:19036112 PMID:19483125 PMID:20113333 PMID:20188141 PMID:21326037 PMID:21489838 PMID:24033266 PMID:24438083 PMID:24728327 PMID:25023898 PMID:25538044 PMID:25741868 PMID:26316487 PMID:26423830 PMID:27069254 PMID:28492532 PMID:28823277 PMID:28859041 PMID:28955303 PMID:31064749 PMID:31294534 PMID:32703794 PMID:34573280 PMID:35449633 PMID:35776903 PMID:36031433 More...
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:30811597 PMID:32581362 PMID:36870884 PMID:37246471 PMID:38468832 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Jak2
Janus kinase 2
ISO
ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3
OMIM ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:30811597 PMID:32581362 PMID:36870884 PMID:37246471 PMID:38468832 More...
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Mpig6b
megakaryocyte and platelet inhibitory receptor G6b
ISO
ClinVar Annotator: match by term: MPIG6B-related condition | ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis
OMIM ClinVar
PMID:23112346 PMID:25741868 PMID:27743390 PMID:28492532
NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735
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Calr
calreticulin
ISO
human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26608331
RGD:11352752
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:16244771
RGD:1598473
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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Epor
erythropoietin receptor
ISO
RGD
PMID:8400289
RGD:11041647
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Il1b
interleukin 1 beta
ISO
RGD
PMID:2265245
RGD:10450885
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Jak2
Janus kinase 2
ISO IAGP
essential thrombocythemia, OMIM:187950 associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F CTD Direct Evidence: marker/mechanism DNA:point mutations: :p.S755R, p.R938Q (human)
CTD RGD
PMID:19287382 PMID:19287384 PMID:15781101 PMID:22467227 PMID:24398328
RGD:1627655 , RGD:15039391 , RGD:10449375
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
DNA:mutation:cds:c.317C > T,p.P106L(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15813844 PMID:16484586 PMID:19036112
RGD:11073684
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Pcdha1
protocadherin alpha 1
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha10
protocadherin alpha 10
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha2
protocadherin alpha 2
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha3
protocadherin alpha 3
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha4
protocadherin alpha 4
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211
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Pcdha5
protocadherin alpha 5
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha6
protocadherin alpha 6
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha7
protocadherin alpha 7
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha8
protocadherin alpha 8
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha9
protocadherin alpha 9
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Sh2b3
SH2B adaptor protein 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombocytosis
CTD ClinVar
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Thpo
thrombopoietin
susceptibility
ISO
DNA:deletion:5' utr CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15813844 PMID:33122006 PMID:9694695
RGD:1601655
Ensembl chr11:80,182,820...80,188,167
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic
ClinVar
PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:16199547 PMID:16470591 PMID:17666371 PMID:18090929 PMID:18422784 PMID:19036112 PMID:20188141 PMID:21489838 PMID:24033266 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26316487 PMID:26423830 PMID:28492532 PMID:28859041 PMID:28955303 PMID:31064749 PMID:32703794 PMID:35449633 PMID:35776903 PMID:36031433 More...
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: TRANSIENT ABNORMAL MYELOPOIESIS | ClinVar Annotator: match by term: Transient myeloproliferative syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:24056718 PMID:25741868 PMID:27993330 PMID:28492532 PMID:14636651
RGD:10450612
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome
ClinVar
PMID:10068652 PMID:12200707 PMID:15156185 PMID:23817177 PMID:28492532
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Abcb7
ATP binding cassette subfamily B member 7
susceptibility
ISO
DNA:missense mutation: :p.I400M (human) ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.V411L (1299G>C) (human) DNA:missense mutation:exon:p.E433K (1305G>A) (human)
ClinVar CTD OMIM RGD
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 PMID:11843825 PMID:17576681 PMID:21326867 PMID:22398176 PMID:25741868 PMID:28492532 PMID:34354969 PMID:10196363 PMID:11843825 PMID:11050011 More...
RGD:1598600 , RGD:11038735 , RGD:11038734
NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
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Alas2
5'-aminolevulinate synthase 2
ISO
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar
PMID:25741868
NCBI chr X:22,890,650...22,914,046
Ensembl chr X:19,463,171...19,486,519
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