RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | lymphatic system cancer |
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Accession: | DOID:0060073
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browse the term
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Definition: | An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. (DO) |
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DOT1L |
DOT1 like histone lysine methyltransferase |
treatment |
ISO |
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RGD |
PMID:23801631 |
RGD:9588291 |
NCBI chr19:1,173,915...1,243,633
Ensembl chr19:2,147,031...2,210,039
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RNF20 |
ring finger protein 20 |
disease_progression |
ISO |
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RGD |
PMID:23412334 |
RGD:9831405 |
NCBI chr 9:72,738,132...72,767,868
Ensembl chr 9:100,732,342...100,761,258
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ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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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...
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NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
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ABCB1 |
ATP binding cassette subfamily B member 1 |
susceptibility |
ISO |
DNA:snps, haplotype:multiple (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:22674224 |
RGD:8657089 |
NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
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ABCC2 |
ATP binding cassette subfamily C member 2 |
treatment |
ISO |
DNA:SNPs: :rs717620(human) DNA:SNP:5'UTR:rs717620(human) |
RGD |
PMID:24404132 PMID:25007187 |
RGD:11080959 RGD:11080979 |
NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
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ABCG2 |
ATP binding cassette subfamily G member 2 (JR blood group) |
disease_progression |
ISO |
mRNA:increased expression:mononuclear cell: |
RGD |
PMID:12100141 PMID:15521915 |
RGD:11081076 RGD:11081143 |
NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
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ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11984797 PMID:21898527 |
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NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
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ABO |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
susceptibility |
ISO |
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RGD |
PMID:17065136 |
RGD:11100012 |
NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324
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AICDA |
activation induced cytidine deaminase |
treatment |
ISO |
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RGD |
PMID:19759560 |
RGD:11039451 |
NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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ARID5B |
AT-rich interaction domain 5B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19684603 PMID:19684604 |
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NCBI chr10:58,426,519...58,621,986
Ensembl chr10:60,756,484...60,952,174
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ARNT |
aryl hydrocarbon receptor nuclear translocator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629
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BAX |
BCL2 associated X, apoptosis regulator |
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ISO |
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OMIM |
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NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
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BCL2 |
BCL2 apoptosis regulator |
severity |
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:25982455 |
RGD:11076595 |
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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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 chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
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BCR |
BCR activator of RhoGEF and GTPase |
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ISO |
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OMIM |
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CASP8 |
caspase 8 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22010212 |
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NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
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CAST |
calpastatin |
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ISO |
protein:increased expresssion:B cell |
RGD |
PMID:11264179 |
RGD:5509822 |
NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650
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CCND1 |
cyclin D1 |
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ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:22391157 |
RGD:11352824 |
NCBI chr11:64,737,006...64,750,353
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CD40LG |
CD40 ligand |
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ISO |
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RGD |
PMID:9292526 |
RGD:11352271 |
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CD46 |
CD46 molecule |
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ISO |
protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:16353080 |
RGD:11352810 |
NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046
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CD79B |
CD79b molecule |
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ISO |
protein:decreased expression:bone marrow, mononuclear cell (human) |
RGD |
PMID:21487112 |
RGD:11250414 |
NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
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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 chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
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CDK6 |
cyclin dependent kinase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24736461 |
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NCBI chr 7:84,603,419...84,835,082
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CDKN2A |
cyclin dependent kinase inhibitor 2A |
susceptibility disease_progression no_association |
ISO |
DNA:missense mutations:cds: ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia DNA:deletion: : |
RGD ClinVar |
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 PMID:9166859 PMID:9204978 PMID:9389568 PMID:9823374 PMID:10090949 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:21085193 PMID:21462282 PMID:22440936 PMID:24733792 PMID:25078331 PMID:25675863 PMID:25741868 PMID:25980754 PMID:26104880 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 More...
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RGD:11057958 RGD:11251764 RGD:11252081 RGD:11252082 |
NCBI chr 9:21,803,862...21,831,322
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CDKN2B |
cyclin dependent kinase inhibitor 2B |
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ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar |
PMID:27993330 |
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NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
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CEBPE |
CCAAT enhancer binding protein epsilon |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19684604 |
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NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219
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CFB |
complement factor B |
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ISO |
DNA:missense mutation:p.R32Q b(human) |
RGD |
PMID:6958349 |
RGD:11041155 |
NCBI chr 6:31,606,716...31,612,782
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CREBBP |
CREB binding protein |
disease_progression |
ISO |
DNA:mutations:multiple |
RGD |
PMID:25917266 |
RGD:11060149 |
NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
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CSF3 |
colony stimulating factor 3 |
treatment |
ISO |
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RGD |
PMID:9250830 |
RGD:11039038 |
NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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CSPG4 |
chondroitin sulfate proteoglycan 4 |
severity |
ISO |
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RGD |
PMID:8562939 |
RGD:734840 |
NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
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CYP1A1 |
cytochrome P450 family 1 subfamily A member 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:16676594 PMID:22964275 PMID:23725389 |
RGD:11352714 RGD:11352725 RGD:11352728 |
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
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CYP1A2 |
cytochrome P450 family 1 subfamily A member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
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CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
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CYP2C8 |
cytochrome P450 family 2 subfamily C member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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NCBI chr10:91,646,387...91,679,998
Ensembl chr10:95,157,661...95,186,620
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CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11774269 |
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Ensembl chr10:134,839,025...134,852,719
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CYP3A5 |
cytochrome P450 family 3 subfamily A member 5 |
susceptibility disease_progression |
ISO |
DNA:polymorphism: : |
RGD |
PMID:19650988 PMID:22215203 |
RGD:11353796 RGD:11353805 |
NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322
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DHFR |
dihydrofolate reductase |
disease_progression |
ISO |
DNA:polymorphisms, haplotype:promoter: DNA:polymorphisms: :-317A>G, 829C>T (human) |
RGD |
PMID:9226157 PMID:12972803 PMID:19861437 PMID:22969948 |
RGD:11039542 RGD:11039543 RGD:11039544 RGD:11039545 |
NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003
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DNMT3A |
DNA methyltransferase 3 alpha |
treatment |
ISO |
DNA:mutations:exon, intron:p.R882(human) |
RGD |
PMID:25242092 |
RGD:11041125 |
NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
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DNTT |
DNA nucleotidylexotransferase |
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ISO |
protein:increased activity:peripheral blood,bone marrow: |
RGD |
PMID:7020399 |
RGD:8694149 |
NCBI chr10:92,916,783...92,958,216
Ensembl chr10:96,423,819...96,457,742
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DPYD |
dihydropyrimidine dehydrogenase |
disease_progression no_association |
ISO |
DNA:splice-site mutation:intron:IVS14+1G>A (human) DNA:SNPs: :2194G>A, 1156G>T (human) DNA:SNP: :85T>C (human) |
RGD |
PMID:26846104 |
RGD:11098453 |
NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
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EHMT1 |
euchromatic histone lysine methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32889036 |
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NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564
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EHMT2 |
euchromatic histone lysine methyltransferase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32889036 |
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NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844
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ENG |
endoglin |
disease_progression |
ISO |
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RGD |
PMID:17572488 |
RGD:11041565 |
NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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EPHX1 |
epoxide hydrolase 1 |
susceptibility no_association |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNPs:exon:rs1051740, rs2234922 (human) DNA:missense mutation, haplotype:exon:p.Y113H (human) DNA:polymorphisms:exon DNA:missense mutation, haplotype:exon:p.H139R (human) |
CTD RGD |
PMID:19593802 PMID:21983886 PMID:22200898 PMID:22930568 |
RGD:11252110 RGD:11252111 RGD:11252113 RGD:11252114 |
NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581
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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:16435384 PMID:16723154 |
RGD:11252160 RGD:11340204 |
NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
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ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
no_association |
ISO |
DNA:haplotype DNA:missense mutations: :p.D312N, p.K751Q (human) |
RGD |
PMID:19101034 PMID:21987080 |
RGD:11252192 RGD:11340201 |
NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
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ERG |
ETS transcription factor ERG |
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ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar |
PMID:27993330 |
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NCBI chr21:24,737,829...25,016,378
Ensembl chr21:38,087,339...38,281,403
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ETV6 |
ETS variant transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar |
PMID:26102509 |
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NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537
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EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO |
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 |
MouseDO |
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NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
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F3 |
coagulation factor III, tissue factor |
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ISO |
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RGD |
PMID:8429686 |
RGD:11340211 |
NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050
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FAS |
Fas cell surface death receptor |
disease_progression |
ISO |
protein:increased expression:CD34+ bone marrow cell |
RGD |
PMID:9711907 PMID:10500800 |
RGD:11049148 RGD:11049157 |
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FGA |
fibrinogen alpha chain |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:25317080 |
RGD:11040558 |
NCBI chr 4:146,949,680...146,957,291
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FLT3 |
fms related receptor tyrosine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar OMIM |
PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 PMID:16857985 PMID:17606455 PMID:17889720 PMID:19657110 PMID:20733134 PMID:22368270 PMID:22504183 PMID:22504184 PMID:23261068 PMID:23321257 PMID:23430109 PMID:23714533 PMID:23783394 PMID:24046014 PMID:25157968 More...
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NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940
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FPGS |
folylpolyglutamate synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25013492 |
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NCBI chr 9:98,921,986...98,933,542
Ensembl chr 9:127,593,592...127,604,200
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GATA3 |
GATA binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35115686 |
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NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272
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GFI1B |
growth factor independent 1B transcriptional repressor |
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ISO |
mRNA:increased expression:blood: |
RGD |
PMID:19360458 |
RGD:11040460 |
NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326
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GNB1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia |
OMIM ClinVar |
PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:32134617 PMID:32901917 More...
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NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
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GPI |
glucose-6-phosphate isomerase |
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ISO |
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RGD |
PMID:6589021 |
RGD:11051848 |
NCBI chr19:31,301,469...31,355,362
Ensembl chr19:40,024,584...40,080,598
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GPX1 |
glutathione peroxidase 1 |
treatment |
ISO |
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RGD |
PMID:17317918 PMID:24698347 |
RGD:11352774 RGD:11352812 |
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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GSR |
glutathione-disulfide reductase |
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ISO |
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RGD |
PMID:24191316 |
RGD:11059506 |
NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
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GSTM1 |
glutathione S-transferase mu 1 |
disease_progression susceptibility no_association |
ISO |
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RGD |
PMID:10666194 PMID:12827651 PMID:14607752 PMID:15738600 |
RGD:10450829 RGD:10755321 RGD:10755409 RGD:10755410 |
Ensembl chr 1:127,979,238...128,010,411
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GSTP1 |
glutathione S-transferase pi 1 |
disease_progression no_association susceptibility |
ISO |
DNA:haplotype:cds: DNA:polymorphism: :1578 a>G(human) DNA:transition mutation:exon: |
RGD |
PMID:10666194 PMID:15738600 PMID:23979883 |
RGD:10450829 RGD:10755321 RGD:10755417 |
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
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H1-2 |
H1.2 linker histone, cluster member |
susceptibility |
ISO |
DNA:SNP, haplotype:enhancer: (rs807212) (human) |
RGD |
PMID:19806355 |
RGD:10755490 |
NCBI chr 6:25,891,079...25,891,859
Ensembl chr 6:26,549,016...26,549,657
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HCK |
HCK proto-oncogene, Src family tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17344919 |
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NCBI chr20:28,346,244...28,395,370
Ensembl chr20:29,474,737...29,523,399
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HDAC1 |
histone deacetylase 1 |
disease_progression |
ISO |
mRNA:increased expression:bone marrow,blood: |
RGD |
PMID:23948281 |
RGD:9681454 |
NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
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HDAC2 |
histone deacetylase 2 |
disease_progression |
ISO |
mRNA:increased expression:bone marrow,blood: |
RGD |
PMID:23948281 |
RGD:9681454 |
NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
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G |
HDAC4 |
histone deacetylase 4 |
treatment |
ISO |
|
RGD |
PMID:23948281 |
RGD:9681454 |
NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
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G |
HFE |
homeostatic iron regulator |
no_association |
ISO |
DNA:missense mutation:cds:p.C282Y (human) DNA:missense mutation: :p.H63D (human) DNA:missense mutation:cds:p.H63D (human) |
RGD |
PMID:10627122 PMID:17107905 |
RGD:10755557 RGD:10755558 |
NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
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G |
HK1 |
hexokinase 1 |
|
ISO |
protein:decreased activity:platelet |
RGD |
PMID:21921332 |
RGD:11353881 |
NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045
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G |
HLF |
HLF transcription factor, PAR bZIP family member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214592 |
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NCBI chr17:49,353,790...49,413,676
Ensembl chr17:54,218,399...54,278,044
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G |
HOXD4 |
homeobox D4 |
|
ISO |
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to |
ClinVar |
PMID:15776434 |
|
NCBI chr2B:63,429,084...63,432,972
Ensembl chr2B:181,140,175...181,141,484
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G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
|
NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
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G |
IFNG |
interferon gamma |
susceptibility |
ISO |
DNA:SNP: :rs2069727(human) |
RGD |
PMID:21067287 |
RGD:10755691 |
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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G |
IKZF1 |
IKAROS family zinc finger 1 |
|
ISO |
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 |
ClinVar |
PMID:25741868 PMID:27993330 PMID:28492532 |
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NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245
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G |
IKZF2 |
IKAROS family zinc finger 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
|
NCBI chr2B:100,255,430...100,407,395
Ensembl chr2B:218,737,506...218,882,087
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G |
IKZF3 |
IKAROS family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
|
NCBI chr17:17,459,438...17,498,452
Ensembl chr17:17,643,750...17,741,479
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G |
IL10 |
interleukin 10 |
treatment |
ISO |
protein:decreased expression:blood |
RGD |
PMID:15860861 PMID:21653647 |
RGD:11049158 RGD:11049169 |
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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G |
IRF4 |
interferon regulatory factor 4 |
|
ISO |
DNA:SNP:intron:rs12203592 (human) |
RGD |
PMID:19897031 |
RGD:11526162 |
NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
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G |
ITPA |
inosine triphosphatase |
no_association treatment |
ISO |
DNA:SNP:intron DNA:SNPs:exon:94C>A, 138G>A (human) |
RGD |
PMID:22009189 |
RGD:10766474 |
NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
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G |
KDM2B |
lysine demethylase 2B |
|
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:21310926 |
RGD:9588255 |
NCBI chr12:119,027,633...119,183,779
Ensembl chr12:122,401,296...122,555,246
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G |
KDM3B |
lysine demethylase 3B |
|
ISO |
protein:increased expression:bone marrow, mononuclear cell (human) |
RGD |
PMID:22615488 |
RGD:9586728 |
NCBI chr 5:133,732,400...133,816,988
Ensembl chr 5:139,863,922...139,947,895
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G |
KDM6A |
lysine demethylase 6A |
severity |
ISO |
DNA:mutations:cds:multiple (human) |
RGD |
PMID:22377896 |
RGD:9684944 |
NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029
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G |
KMT2A |
lysine methyltransferase 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 |
CTD MouseDO |
PMID:24736461 PMID:25730765 |
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NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100
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G |
KRAS |
KRAS proto-oncogene, GTPase |
disease_progression |
ISO |
|
RGD |
PMID:17910045 PMID:25917266 |
RGD:11060148 RGD:11060149 |
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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G |
LMO2 |
LIM domain only 2 |
|
ISO |
OMIM:247640 | OMIM:613065 |
MouseDO |
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NCBI chr11:33,830,370...33,863,960
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G |
LOC100971425 |
somatotropin |
treatment |
ISO |
|
RGD |
PMID:2494952 |
RGD:11352727 |
NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067
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G |
LOC100972994 |
HLA class II histocompatibility antigen, DQ beta 1 chain |
|
ISO |
DNA:polymorphisms, haplotypes:cds:multiple DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human) |
RGD |
PMID:9744491 PMID:22434102 |
RGD:11041749 RGD:11041762 |
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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G |
LOC100981146 |
cytokine receptor like factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19838194 |
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NCBI chr X:933,459...957,950
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G |
LOC100986914 |
cytochrome b-245 light chain |
|
ISO |
mRNA:increased expression:peripheral blood mononuclear cell: |
RGD |
PMID:19222940 |
RGD:11040545 |
NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719
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G |
LOC100988273 |
cytochrome P450 2D6-like |
susceptibility |
ISO |
DNA:SNP,deletion:splice junction,exon:1934G>A(human) DNA:polymorphisms: : |
RGD |
PMID:11037802 PMID:19593802 |
RGD:11252111 RGD:11352820 |
NCBI chr22:23,022,449...23,031,627
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G |
MEFV |
MEFV innate immunity regulator, pyrin |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.E148Q,M680I(human) |
RGD |
PMID:22942567 |
RGD:11531121 |
NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970
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|
G |
MTHFR |
methylenetetrahydrofolate reductase |
treatment disease_progression |
ISO |
DNA:missense mutation:cds:677C>T (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) |
RGD CTD |
PMID:16706930 PMID:19923983 PMID:21644011 |
RGD:10449398 RGD:10449407 |
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
susceptibility disease_progression no_association |
ISO |
DNA:polymorphism: :2756A>G(human) DNA:SNP::rs10925235(human) DNA:polymorphism: :66A>G(human) |
RGD |
PMID:15159311 PMID:21618417 PMID:22453148 PMID:26605150 |
RGD:11531136 RGD:11531137 RGD:11531140 RGD:11531141 |
NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
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G |
MTRR |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3776455(human) DNA:haplotype:cds: |
CTD RGD |
PMID:17136115 PMID:23940529 |
RGD:11531133 RGD:11531135 |
NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322
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G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
disease_progression |
ISO |
|
RGD |
PMID:25784651 |
RGD:11532748 |
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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G |
NAT2 |
N-acetyltransferase 2 |
susceptibility no_association |
ISO |
DNA:polymorphisms: : DNA:polymorphisms,haplotype: : CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:21888617 PMID:22200898 PMID:22215203 PMID:25804798 |
RGD:11353805 RGD:11532767 RGD:11532769 |
NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
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G |
NBN |
nibrin |
|
ISO |
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 ClinVar |
PMID:9590180 PMID:11325820 PMID:12353271 PMID:14559852 PMID:15338273 PMID:16415040 PMID:16474176 PMID:16770759 PMID:16810201 PMID:17001621 PMID:17496786 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18023021 PMID:18049891 PMID:18280732 PMID:18606567 PMID:18612309 PMID:18638378 PMID:19393249 PMID:19452044 PMID:19523210 PMID:19584272 PMID:19804756 PMID:19813148 PMID:19908051 PMID:20805886 PMID:21212067 PMID:21302341 PMID:21698754 PMID:22131123 PMID:22373003 PMID:22491912 PMID:22841127 PMID:22864661 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:25503501 PMID:25619955 PMID:25712764 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26315354 PMID:26467025 PMID:26564480 PMID:26722329 PMID:26787654 PMID:26898890 PMID:27153395 PMID:27616075 PMID:27621404 PMID:27978560 PMID:28076423 PMID:28135145 PMID:28261280 PMID:28376765 PMID:28492532 PMID:28528518 PMID:28591191 PMID:28726808 PMID:28888541 PMID:29335925 PMID:29371908 PMID:29522266 PMID:29596542 PMID:29615459 PMID:29659569 PMID:29678143 PMID:29785153 PMID:30256826 PMID:30287823 PMID:30306255 PMID:30441849 PMID:30590007 PMID:30651582 PMID:30982232 PMID:31159747 PMID:31206626 PMID:31415627 PMID:31666926 PMID:31780696 PMID:31874108 PMID:32068069 PMID:32427313 PMID:32566746 PMID:32668560 PMID:32832836 PMID:32936981 PMID:32980694 PMID:33309985 PMID:33471991 PMID:33800431 PMID:34072463 PMID:34284872 PMID:35245693 PMID:35264596 PMID:36346689 More...
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NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307
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G |
NOS3 |
nitric oxide synthase 3 |
disease_progression susceptibility |
ISO |
DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human) DNA:SNP: :rs3918186(human) |
RGD |
PMID:20510681 PMID:23922896 |
RGD:11533639 RGD:11533646 |
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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G |
NOTCH3 |
notch receptor 3 |
|
ISO |
OMIM:247640 | OMIM:613065 |
MouseDO |
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NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
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G |
NQO1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
DNA:mutation: :609C>T (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) |
RGD CTD |
PMID:11774269 PMID:17332311 PMID:18444911 |
RGD:10769347 RGD:10769359 |
NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
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G |
NRAS |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
DNA:missense mutation:cds: |
RGD |
PMID:25204082 |
RGD:11535045 |
NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
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G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24076604 |
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NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425
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G |
NT5C2 |
5'-nucleotidase, cytosolic II |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23377183 |
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NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
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G |
NUP214 |
nucleoporin 214 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305
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G |
P2RY8 |
P2Y receptor family member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19838194 |
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Ensembl chr X:1,599,411...1,600,490
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G |
PAG1 |
phosphoprotein membrane anchor with glycosphingolipid microdomains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
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NCBI chr 8:77,492,087...77,635,854
Ensembl chr 8:79,123,503...79,218,100
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G |
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 |
OMIM ClinVar |
PMID:24013638 PMID:24728327 PMID:25741868 PMID:27993330 PMID:28492532 PMID:30643249 PMID:35094443 More...
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NCBI chr 9:36,677,369...36,876,678
Ensembl chr 9:37,474,267...37,673,684
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G |
PON1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) |
RGD |
PMID:22976839 |
RGD:11552580 |
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
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G |
PRDM14 |
PR/SET domain 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19043588 |
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NCBI chr 8:66,578,674...66,599,360
Ensembl chr 8:68,240,741...68,260,263
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G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 |
MouseDO |
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NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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G |
RB1 |
RB transcriptional corepressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
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NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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G |
SLC19A1 |
solute carrier family 19 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17255265 |
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NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752
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G |
SNRPE |
small nuclear ribonucleoprotein polypeptide E |
severity |
ISO |
mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) |
RGD |
PMID:23915977 |
RGD:10768836 |
NCBI chr 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937
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G |
TAL1 |
TAL bHLH transcription factor 1, erythroid differentiation factor |
|
ISO |
|
OMIM |
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NCBI chr 1:46,524,484...46,540,595
Ensembl chr 1:48,042,594...48,048,622
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G |
TAL2 |
TAL bHLH transcription factor 2 |
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ISO |
|
OMIM |
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G |
TCF3 |
transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214592 |
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Ensembl chr19:1,582,297...1,622,025
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G |
TCN2 |
transcobalamin 2 |
|
ISO |
protein:altered activity:plasma: |
RGD |
PMID:8754152 |
RGD:11059889 |
NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494
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G |
TERT |
telomerase reverse transcriptase |
|
ISO |
DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) |
RGD |
PMID:15621763 PMID:23066086 |
RGD:11038654 RGD:11038667 |
Ensembl chr 5:1,300,960...1,338,872
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G |
TM9SF2 |
transmembrane 9 superfamily member 2 |
|
ISO |
mRNA:increased expression:bone marrow, mononuclear cells (human) |
RGD |
PMID:12730115 |
RGD:2317244 |
NCBI chr13:80,669,277...80,731,340
Ensembl chr13:99,807,555...99,869,456
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G |
TP53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
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NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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G |
TPMT |
thiopurine S-methyltransferase |
no_association treatment |
ISO |
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 DNA:SNPs:multiple |
RGD |
PMID:17164697 PMID:22009189 PMID:24499706 |
RGD:10766474 RGD:11038720 RGD:11038723 |
NCBI chr 6:17,977,544...18,002,839
Ensembl chr 6:18,330,000...18,355,157
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G |
TTC12 |
tetratricopeptide repeat domain 12 |
|
ISO |
DNA:hypermethylation:5'end:CpG dinucleotide |
RGD |
PMID:17657212 |
RGD:405866376 |
NCBI chr11:108,194,610...108,253,161
Ensembl chr11:112,037,620...112,106,537
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G |
TYMS |
thymidylate synthetase |
treatment |
ISO |
DNA:repeats: : rs347430033(human) |
RGD |
PMID:25007187 |
RGD:11080979 |
NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320
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G |
XRCC1 |
X-ray repair cross complementing 1 |
susceptibility no_association |
ISO |
DNA:missense mutation, haplotype: :p.R399Q (human) DNA:missense mutation: :p.R399Q (human) DNA:missense mutation: :p.R194W (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:19101034 PMID:21983886 |
RGD:11252110 RGD:11252192 |
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12623848 PMID:14559829 PMID:14745431 PMID:15194504 PMID:15256422 PMID:15381060 PMID:18615627 PMID:19466505 PMID:19652056 PMID:20367437 PMID:20512393 PMID:20537386 PMID:20697894 PMID:20963643 PMID:21505103 PMID:21562040 PMID:21762985 PMID:21872826 PMID:21895409 PMID:22306673 PMID:22772060 PMID:22870928 PMID:23355941 PMID:23540562 PMID:23676790 PMID:24236021 PMID:24456693 PMID:25157968 PMID:25686603 PMID:25741868 PMID:36063163 More...
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NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
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G |
CYP2B6 |
cytochrome P450 family 2 subfamily B member 6 |
susceptibility |
ISO |
DNA:polymorphism:G15631T |
RGD |
PMID:19144407 |
RGD:6480472 |
NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672
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FGFR1 |
fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 |
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NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
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IL7R |
interleukin 7 receptor |
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ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:22897847 PMID:22955920 |
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NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612
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INSL6 |
insulin like 6 |
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ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 |
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NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827
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JAK1 |
Janus kinase 1 |
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ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 PMID:21436584 PMID:21680795 PMID:22955920 PMID:25352124 PMID:28111307 More...
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NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991
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JAK2 |
Janus kinase 2 |
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ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 |
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NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
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JAK3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: LYMPHOMATOUS ALL |
ClinVar |
PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 PMID:21599579 PMID:21821710 PMID:24728327 PMID:25157968 PMID:25741868 PMID:28492532 More...
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NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
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LOC100981146 |
cytokine receptor like factor 2 |
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ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272 |
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NCBI chr X:933,459...957,950
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AQP1 |
aquaporin 1 (Colton blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141
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ARID1A |
AT-rich interaction domain 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
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ARID2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
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NCBI chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564
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ARID4B |
AT-rich interaction domain 4B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 1:210,711,946...210,874,034
Ensembl chr 1:215,729,783...215,888,412
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ARID5B |
AT-rich interaction domain 5B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr10:58,426,519...58,621,986
Ensembl chr10:60,756,484...60,952,174
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ASPM |
assembly factor for spindle microtubules |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
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ATM |
ATM serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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ATR |
ATR serine/threonine kinase |
treatment |
ISO |
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RGD |
PMID:32001675 |
RGD:150340693 |
NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261
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ATRX |
ATRX chromatin remodeler |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486
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BAP1 |
BRCA1 associated deubiquitinase 1 |
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ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532 |
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NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
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BCL11A |
BCL11 transcription factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800
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BCOR |
BCL6 corepressor |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
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NCBI chr X:32,497,931...32,624,307
Ensembl chr X:40,202,235...40,249,986
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BCORL1 |
BCL6 corepressor like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr X:119,108,049...119,185,165
Ensembl chr X:129,403,888...129,479,297
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BRCA1 |
BRCA1 DNA repair associated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
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BRD1 |
bromodomain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr22:29,993,902...30,048,349
Ensembl chr22:48,998,037...49,048,101
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CCND1 |
cyclin D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr11:64,737,006...64,750,353
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CDH1 |
cadherin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17520682 |
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NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
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CMTR2 |
cap methyltransferase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr16:53,727,087...53,734,555
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CREBBP |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
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NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
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DAPK1 |
death associated protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958
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DTL |
denticleless E3 ubiquitin protein ligase homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 1:187,603,600...187,672,006
Ensembl chr 1:192,466,408...192,535,071
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DTX4 |
deltex E3 ubiquitin ligase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr11:54,389,228...54,425,655
Ensembl chr11:57,839,228...57,874,337
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EFHD1 |
EF-hand domain family member D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr2B:119,865,065...119,914,446
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EN1 |
engrailed homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr2B:5,798,557...5,804,368
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EP300 |
E1A binding protein p300 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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ERBIN |
erbb2 interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 5:47,929,305...48,081,381
Ensembl chr 5:49,589,418...49,676,689
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ESPL1 |
extra spindle pole bodies like 1, separase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr12:35,460,500...35,486,794
Ensembl chr12:36,241,533...36,266,101
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FANCA |
FA complementation group A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
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FAT1 |
FAT atypical cadherin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357
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FBXW7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:26619011 |
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NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
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FGF16 |
fibroblast growth factor 16 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr X:66,623,050...66,634,325
Ensembl chr X:76,737,733...76,749,731
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FGFR2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
PMID:26619011 |
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NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
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FGFR4 |
fibroblast growth factor receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605
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G |
FOXO3 |
forkhead box O3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272
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G |
FOXP2 |
forkhead box P2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893
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GAS2 |
growth arrest specific 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr11:22,639,677...22,822,208
Ensembl chr11:22,583,367...22,729,243
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GAS6 |
growth arrest specific 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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Ensembl chr13:113,968,843...114,009,562
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GINS2 |
GINS complex subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr16:66,344,706...66,356,079
Ensembl chr16:85,681,716...85,691,626
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GUCY1A1 |
guanylate cyclase 1 soluble subunit alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 4:148,032,167...148,102,757
Ensembl chr 4:159,850,107...159,913,338
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H1-4 |
H1.4 linker histone, cluster member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 6:25,992,845...26,006,585
Ensembl chr 6:26,652,151...26,652,810 Ensembl chr 6:26,652,151...26,652,810
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HOMER3 |
homer scaffold protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr19:18,367,191...18,379,454
Ensembl chr19:19,374,442...19,385,392
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HRAS |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
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NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
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IGFBP2 |
insulin like growth factor binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr2B:103,893,724...103,925,318
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IL17RD |
interleukin 17 receptor D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 3:57,023,622...57,098,869
Ensembl chr 3:58,240,835...58,309,409
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INSRR |
insulin receptor related receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 1:132,183,963...132,195,267
Ensembl chr 1:136,005,458...136,024,374
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IRX4 |
iroquois homeobox 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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Ensembl chr 5:1,929,977...1,939,622
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ISYNA1 |
inositol-3-phosphate synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr19:17,913,400...17,916,789
Ensembl chr19:18,884,412...18,887,931
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ITGB4 |
integrin subunit beta 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401
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G |
JAG1 |
jagged canonical Notch ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
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G |
JAK3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:14615376 PMID:28492532 PMID:33040328 |
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NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
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JMJD1C |
jumonji domain containing 1C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr10:59,674,227...60,028,763
Ensembl chr10:61,999,571...62,295,332
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G |
KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr17:11,508,245...11,705,023
Ensembl chr17:11,296,318...11,456,593
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G |
KAT6A |
lysine acetyltransferase 6A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538
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KDM6A |
lysine demethylase 6A |
exacerbates |
ISO |
CTD Direct Evidence: marker/mechanism DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human) DNA:mutations:multiple: (human) |
CTD RGD |
PMID:23685749 PMID:31483290 |
RGD:150429732 RGD:150429736 |
NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029
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KDM6B |
lysine demethylase 6B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr17:7,878,783...7,889,372
Ensembl chr17:7,866,973...7,874,937
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G |
KMT2C |
lysine methyltransferase 2C |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23685749 PMID:31483290 |
RGD:150429736 |
NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
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KRAS |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17384584 PMID:17704260 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22722830 PMID:23182985 PMID:23406027 PMID:25157968 PMID:26242988 PMID:28492532 More...
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NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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KRT15 |
keratin 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr17:15,794,336...15,802,977
Ensembl chr17:16,011,990...16,020,629
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G |
KRT5 |
keratin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105
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G |
LOC100981334 |
X antigen family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24648988 |
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NCBI chr X:44,700,391...44,705,731
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G |
LOC100988670 |
histone H2A type 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 6:27,695,226...27,696,385
Ensembl chr 6:28,342,376...28,342,768
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G |
LOC100990608 |
contactin-6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 3:1,021,854...1,339,952
Ensembl chr 3:1,133,190...1,442,622
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G |
LRRC56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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MAGI1 |
membrane associated guanylate kinase, WW and PDZ domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 3:65,257,763...65,932,527
Ensembl chr 3:66,635,580...66,757,358
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MAGI2 |
membrane associated guanylate kinase, WW and PDZ domain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 7:69,943,704...71,395,176
Ensembl chr 7:83,758,512...84,760,872
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MAML3 |
mastermind like transcriptional coactivator 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 4:132,082,120...132,518,928
Ensembl chr 4:143,391,606...143,562,699
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MAP2K2 |
mitogen-activated protein kinase kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933
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MARCKS |
myristoylated alanine rich protein kinase C substrate |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 6:111,647,847...111,653,821
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MARK2 |
microtubule affinity regulating kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr11:59,195,852...59,268,391
Ensembl chr11:62,546,455...62,618,772
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G |
MECOM |
MDS1 and EVI1 complex locus |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
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NCBI chr 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252
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MGA |
MAX dimerization protein MGA |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr15:20,560,842...20,710,269
Ensembl chr15:38,839,708...38,948,847
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MIER2 |
MIER family member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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Ensembl chr19:259,565...288,920
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MLC1 |
modulator of VRAC current 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr22:30,287,928...30,316,094
Ensembl chr22:49,289,366...49,315,112
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MORF4L1 |
mortality factor 4 like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr15:57,844,220...57,869,139
Ensembl chr15:76,772,007...76,829,259
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MYB |
MYB proto-oncogene, transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 PMID:26829750 |
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NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194
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G |
MYBL1 |
MYB proto-oncogene like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 8:63,105,379...63,156,421
Ensembl chr 8:64,771,278...64,811,960
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G |
MYCBP |
MYC binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 1:38,135,375...38,145,640
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MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr2A:15,925,130...15,931,605
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G |
NETO2 |
neuropilin and tolloid like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr16:27,343,333...27,405,173
Ensembl chr16:46,235,165...46,284,344
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NFIB |
nuclear factor I B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 9:13,923,516...14,376,264
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NOTCH1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
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NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
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NSD1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351
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NTRK3 |
neurotrophic receptor tyrosine kinase 3 |
treatment |
ISO |
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RGD |
PMID:23027130 |
RGD:150519921 |
NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204
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G |
PCSK1N |
proprotein convertase subtilisin/kexin type 1 inhibitor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr X:41,128,785...41,133,284
Ensembl chr X:48,988,948...48,990,028
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G |
PDZK1 |
PDZ domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 1:122,034,097...122,091,823
Ensembl chr 1:113,579,273...113,615,390
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:15930273 PMID:17376864 PMID:18074223 PMID:19366826 PMID:22120714 PMID:22658544 PMID:22949682 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28151489 PMID:28492532 PMID:29446767 PMID:34008892 More...
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NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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PRKDC |
protein kinase, DNA-activated, catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
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G |
PTEN |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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G |
PYGB |
glycogen phosphorylase B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr20:25,191,066...25,242,955
Ensembl chr20:25,593,589...25,648,066
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G |
RBFOX2 |
RNA binding fox-1 homolog 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr22:16,740,707...17,031,415
Ensembl chr22:34,586,044...34,870,257
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G |
SERPINF1 |
serpin family F member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
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G |
SETD2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
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G |
SF3B1 |
splicing factor 3b subunit 1 |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
PMID:25741868 PMID:26619011 |
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NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346
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G |
SLC24A3 |
solute carrier family 24 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr20:19,168,820...19,680,706
Ensembl chr20:19,137,938...19,646,475
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G |
SLC3A2 |
solute carrier family 3 member 2 |
disease_progression |
ISO |
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RGD |
PMID:23516127 |
RGD:151361211 |
NCBI chr11:58,212,395...58,241,686
Ensembl chr11:61,565,680...61,594,579
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SLC7A5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
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RGD |
PMID:23516127 |
RGD:151361211 |
NCBI chr16:68,512,407...68,552,763
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SMARCA2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
|
ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
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NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409
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G |
SMARCB1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
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NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921
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G |
SMARCE1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr17:16,633,982...16,660,502
Ensembl chr17:16,860,400...16,884,946
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SMC1A |
structural maintenance of chromosomes 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr X:45,576,100...45,637,314
Ensembl chr X:53,697,154...53,745,636
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G |
SON |
SON DNA and RNA binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr21:19,910,024...19,944,511
Ensembl chr21:33,282,910...33,316,007
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G |
SOX11 |
SRY-box transcription factor 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr2A:5,699,738...5,711,210
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SOX4 |
SRY-box transcription factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 6:21,422,846...21,427,779
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SRCAP |
Snf2 related CREBBP activator protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr16:24,229,869...24,271,427
Ensembl chr16:31,065,964...31,106,312
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G |
ST3GAL4 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr11:121,169,213...121,228,287
Ensembl chr11:125,079,260...125,141,737
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STAT3 |
signal transducer and activator of transcription 3 |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
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NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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G |
TLK1 |
tousled like kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr2B:58,277,362...58,445,321
Ensembl chr2B:175,735,054...175,903,322
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G |
TOP2A |
DNA topoisomerase II alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207
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G |
TP53 |
tumor protein p53 |
disease_progression |
ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
RGD ClinVar |
PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 PMID:7885831 PMID:8023157 PMID:8080050 PMID:8364550 PMID:8869100 PMID:10713666 PMID:10871862 PMID:11479205 PMID:11782540 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12826609 PMID:14559903 PMID:16249115 PMID:16322298 PMID:16494995 PMID:16736287 PMID:16818505 PMID:16861262 PMID:17541742 PMID:17606709 PMID:17724467 PMID:18208484 PMID:18818522 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20505364 PMID:20522432 PMID:21343334 PMID:21514416 PMID:21519010 PMID:21626334 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23259501 PMID:23625637 PMID:24033266 PMID:24384472 PMID:24728327 PMID:25503501 PMID:25584008 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26270727 PMID:26467025 PMID:26585234 PMID:26619011 PMID:27276561 PMID:27463065 PMID:27489289 PMID:27533082 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28492532 PMID:28861920 PMID:29070607 PMID:29076966 PMID:29324801 PMID:29470806 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30224644 PMID:30299350 PMID:30327374 PMID:30630526 PMID:30720243 PMID:30840781 PMID:31119730 PMID:31775759 PMID:32019277 PMID:33332384 PMID:33372952 PMID:34805717 More...
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RGD:8547828 |
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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UHRF1 |
ubiquitin like with PHD and ring finger domains 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr19:3,926,583...3,979,163
Ensembl chr19:4,872,753...4,925,330
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G |
VCAN |
versican |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 5:31,699,278...31,810,169
Ensembl chr 5:32,019,709...32,130,351
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G |
WNT5B |
Wnt family member 5B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr12:1,633,987...1,757,431
Ensembl chr12:1,691,097...1,708,351
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XRN2 |
5'-3' exoribonuclease 2 |
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ISO |
DNA:hypermethylation:3' utr: (human) |
RGD |
PMID:21692051 |
RGD:11041796 |
NCBI chr20:21,260,871...21,347,430
Ensembl chr20:21,222,138...21,308,561
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HNF1A |
HNF1 homeobox A |
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ISO |
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RGD |
PMID:10489374 |
RGD:150540314 |
NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
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BIRC5 |
baculoviral IAP repeat containing 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16497974 |
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NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
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G |
BMP6 |
bone morphogenetic protein 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18688853 |
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NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649
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G |
CARD11 |
caspase recruitment domain family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 7:3,166,788...3,304,729
Ensembl chr 7:3,258,736...3,332,999
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G |
CCR4 |
C-C motif chemokine receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 3:32,882,419...32,887,442
Ensembl chr 3:33,188,482...33,189,564
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G |
CCR7 |
C-C motif chemokine receptor 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr17:16,720,236...16,731,955
Ensembl chr17:16,949,119...16,956,370
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G |
CD163 |
CD163 molecule |
disease_progression |
ISO |
protein:increased expression:lymph node tumor (human) |
RGD |
PMID:23557330 |
RGD:42721976 |
NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
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CD274 |
CD274 molecule |
disease_progression |
ISO |
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RGD |
PMID:27418641 |
RGD:41412177 |
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
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G |
CD28 |
CD28 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
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G |
CD68 |
CD68 molecule |
disease_progression |
ISO |
protein:increased expression:lymph node tumor (human) |
RGD |
PMID:23557330 |
RGD:42721976 |
NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981
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CD80 |
CD80 molecule |
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ISO |
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RGD |
PMID:10590132 |
RGD:6902938 |
NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870
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CD86 |
CD86 molecule |
|
ISO |
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RGD |
PMID:10590132 |
RGD:6902938 |
NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
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G |
CSNK1A1 |
casein kinase 1 alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 5:144,919,775...144,977,105
Ensembl chr 5:150,929,420...150,985,912
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G |
CSNK2A1 |
casein kinase 2 alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr20:689,494...752,092
Ensembl chr20:456,629...521,126
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G |
CSNK2B |
casein kinase 2 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 6:31,327,250...31,331,250
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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G |
FAS |
Fas cell surface death receptor |
susceptibility |
ISO |
protein:increased expression:peripheral blood mononuclear cell: DNA:polymorphism:promoter: -670 G>A(human) |
RGD |
PMID:7513372 PMID:17962369 |
RGD:11049147 RGD:11049453 |
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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G |
FOXP3 |
forkhead box P3 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23797717 PMID:23962110 |
RGD:38456007 |
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
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G |
FYN |
FYN proto-oncogene, Src family tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 6:109,469,750...109,684,086
Ensembl chr 6:113,545,944...113,604,451
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G |
GATA3 |
GATA binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272
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G |
GPR183 |
G protein-coupled receptor 183 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr13:80,461,908...80,475,046
Ensembl chr13:99,601,220...99,602,305
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G |
HNRNPA2B1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 7:26,835,881...26,846,578
Ensembl chr 7:26,439,443...26,449,985
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G |
ICOS |
inducible T cell costimulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734
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G |
IFNG |
interferon gamma |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:8800741 PMID:23962110 |
RGD:10755707 |
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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G |
IKZF2 |
IKAROS family zinc finger 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr2B:100,255,430...100,407,395
Ensembl chr2B:218,737,506...218,882,087
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G |
IL10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8704212 PMID:23962110 |
RGD:11049460 |
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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G |
IL2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110 |
|
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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G |
IL4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110 |
|
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
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G |
IL5 |
interleukin 5 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:16425276 |
RGD:11354942 |
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
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G |
IL6 |
interleukin 6 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:10374863 |
RGD:11060275 |
NCBI chr 7:23,415,922...23,420,767
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G |
IRF4 |
interferon regulatory factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
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G |
JAK3 |
Janus kinase 3 |
|
ISO |
DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) |
RGD |
PMID:21821710 |
RGD:11531131 |
NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
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G |
LOC100972354 |
interferon alpha-2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12560223 PMID:17077332 |
|
NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
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G |
MYB |
MYB proto-oncogene, transcription factor |
disease_progression |
ISO |
mRNA:splice variants:CD4+ T cell: |
RGD |
PMID:27307595 |
RGD:11532670 |
NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194
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G |
NOTCH1 |
notch receptor 1 |
|
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:16707600 |
RGD:1580759 |
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
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G |
NRAS |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
|
RGD |
PMID:21586752 |
RGD:11535055 |
NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
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G |
PLCG1 |
phospholipase C gamma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145
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G |
PRKCB |
protein kinase C beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr16:13,888,936...14,268,759
Ensembl chr16:24,091,289...24,466,203
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G |
STAT3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24090995 |
|
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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G |
TAL2 |
TAL bHLH transcription factor 2 |
|
ISO |
|
RGD |
PMID:1763056 |
RGD:1599285 |
|
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G |
TERF2 |
telomeric repeat binding factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17643074 |
|
NCBI chr16:49,729,906...49,763,002
Ensembl chr16:69,116,539...69,148,423
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G |
TLX1 |
T cell leukemia homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:1683261 PMID:1717256 |
RGD:1599439 |
NCBI chr10:97,731,715...97,738,978
Ensembl chr10:101,207,374...101,214,625
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G |
TNFSF8 |
TNF superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 |
|
NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822
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G |
TP73 |
tumor protein p73 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
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G |
VAV1 |
vav guanine nucleotide exchange factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112
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G |
ALK |
ALK receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 PMID:22968692 More...
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NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735
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G |
HSP90AA1 |
heat shock protein 90 alpha family class A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157164 |
|
NCBI chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723
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G |
IRF4 |
interferon regulatory factor 4 |
|
ISO |
DNA:translocation |
RGD |
PMID:18987657 |
RGD:11526155 |
NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
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|
G |
JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
|
RGD |
PMID:12145210 |
RGD:1549449 |
NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
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G |
RELA |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17261581 |
|
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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G |
STAT3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22155737 |
|
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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G |
TNFRSF8 |
TNF receptor superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10908157 PMID:17261581 |
|
NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495
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G |
TWIST1 |
twist family bHLH transcription factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22155737 |
|
NCBI chr 7:19,761,041...19,765,665
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G |
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 More...
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NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400
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G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia |
ClinVar |
PMID:23623386 PMID:25741868 |
|
NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
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G |
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 |
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NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
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G |
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...
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NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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|
G |
ABCG2 |
ATP binding cassette subfamily G member 2 (JR blood group) |
susceptibility |
ISO |
DNA:SNPs,haplotype: :rs1481012,rs2231142(human) |
RGD |
PMID:21918980 |
RGD:11080977 |
NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
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G |
ACOXL |
acyl-CoA oxidase like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
|
NCBI chr2A:90,912,247...91,300,770
Ensembl chr2A:111,985,358...112,335,160
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G |
AICDA |
activation induced cytidine deaminase |
disease_progression |
ISO |
|
RGD |
PMID:21133730 |
RGD:11039455 |
NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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G |
APOE |
apolipoprotein E |
disease_progression |
ISO |
|
RGD |
PMID:18784741 |
RGD:11040549 |
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
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G |
ATM |
ATM serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17968022 |
|
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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G |
BCL11A |
BCL11 transcription factor A |
|
ISO |
DNA:translocation:5' utr: (human) |
RGD |
PMID:11719382 |
RGD:11100004 |
NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800
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G |
BCL2 |
BCL2 apoptosis regulator |
severity no_association treatment |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:B cell (human) DNA:snp:promoter:g.-938C>A (human) |
CTD RGD |
PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 PMID:23770605 More...
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RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110 |
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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G |
BMF |
Bcl2 modifying factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
|
NCBI chr15:19,026,053...19,047,008
Ensembl chr15:37,281,655...37,302,075
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17704260 PMID:18039235 PMID:18060073 PMID:18368129 PMID:18413255 PMID:18794803 PMID:19206169 PMID:19376813 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21062266 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:23680146 PMID:24033266 PMID:24451042 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29453417 PMID:29595366 More...
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NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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G |
BTK |
Bruton tyrosine kinase |
treatment |
ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia |
RGD ClinVar |
PMID:23045577 PMID:24869598 PMID:25741868 PMID:28492532 |
RGD:11040699 |
NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
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G |
C9H11orf21 |
chromosome 9 C11orf21 homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr11:2,332,841...2,348,227
Ensembl chr11:2,361,217...2,367,568
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G |
CBL |
Cbl proto-oncogene |
severity |
ISO |
mRNA,protein:increased expression:CD5+ B cell: DNA:hypophosphorylation:CD5+ B cell: |
RGD |
PMID:17804547 |
RGD:11038803 |
NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
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G |
CCDC50 |
coiled-coil domain containing 50 |
|
ISO |
|
RGD |
PMID:19641524 |
RGD:9685139 |
NCBI chr 3:188,621,004...188,686,831
Ensembl chr 3:196,968,817...197,031,790
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G |
CD40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:20616215 |
RGD:5490532 |
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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G |
CD40LG |
CD40 ligand |
|
ISO |
mouse-human chimeric gene in human |
RGD |
PMID:20882050 |
RGD:11352235 |
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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G |
CD5 |
CD5 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr11:56,362,415...56,388,469
Ensembl chr11:59,801,808...59,826,448
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G |
CD79B |
CD79b molecule |
|
ISO |
protein:decreased expression:B lymphocyte, cell surface (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) DNA:polymorphism:multiple (human) |
RGD |
PMID:9269755 PMID:10090943 PMID:10552962 |
RGD:11250403 RGD:151665190 RGD:151665202 |
NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
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G |
CD86 |
CD86 molecule |
severity |
ISO |
protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:25179679 |
RGD:11354969 |
NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
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G |
CPEB1 |
cytoplasmic polyadenylation element binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062064 |
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NCBI chr15:62,949,264...63,053,994
Ensembl chr15:80,443,096...80,526,948
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
|
ISO |
protein:increased expression:T cell |
RGD |
PMID:15914560 PMID:16094420 |
RGD:11344923 RGD:11352246 |
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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G |
DKC1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
|
RGD |
PMID:18077792 |
RGD:11251735 |
NCBI chr X:144,243,493...144,257,419
Ensembl chr X:154,084,412...154,098,475
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G |
DNMT3B |
DNA methyltransferase 3 beta |
|
ISO |
mRNA:decreased expression: B cell |
RGD |
PMID:15467427 |
RGD:9589146 |
NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
severity |
ISO |
DNA:SNP: :p.K751Q (rs13181) (human) |
RGD |
PMID:19484764 PMID:22739018 |
RGD:11252203 RGD:11252204 |
NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
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G |
FARP2 |
FERM, ARH/RhoGEF and pleckstrin domain protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062064 |
|
NCBI chr2B:128,627,208...128,766,233
Ensembl chr2B:247,438,265...247,559,735
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G |
FAS |
Fas cell surface death receptor |
disease_progression |
ISO |
|
RGD |
PMID:12901972 |
RGD:11049461 |
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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G |
FBXW7 |
F-box and WD repeat domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:25741868 PMID:26619011 |
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NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
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G |
FCGR3A |
Fc gamma receptor IIIa |
no_association |
ISO |
DNA:SNP:exon:p.F158V (rs396991) (human) |
RGD |
PMID:14563637 |
RGD:11352260 |
NCBI chr 1:137,027,943...137,036,738
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G |
GNAS |
GNAS complex locus |
disease_progression |
ISO |
DNA:polymorphism:393T>C (human) |
RGD |
PMID:17020971 |
RGD:1601379 |
NCBI chr20:55,190,607...55,262,245
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G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
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NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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G |
ICAM1 |
intercellular adhesion molecule 1 |
severity |
ISO |
|
RGD |
PMID:7658704 |
RGD:11354983 |
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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G |
IFNG |
interferon gamma |
susceptibility |
ISO |
DNA:polymorphism: :847A>T(human) |
RGD |
PMID:19757192 |
RGD:10755703 |
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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G |
IL10 |
interleukin 10 |
disease_progression no_association |
ISO |
protein:increased expression:serum DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) DNA:SNPs: :multiple |
RGD |
PMID:10638947 PMID:19573080 PMID:22945689 |
RGD:11041895 RGD:11049165 RGD:11049174 |
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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G |
IL19 |
interleukin 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
|
NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748
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IL1A |
interleukin 1 alpha |
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ISO |
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RGD |
PMID:19074885 |
RGD:11051968 |
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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IL1B |
interleukin 1 beta |
severity |
ISO |
DNA:SNP:promoter:-511C>T (human) protein:decreased expression:plasma: |
RGD |
PMID:10870116 PMID:18271063 |
RGD:11051967 RGD:11522755 |
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL1RN |
interleukin 1 receptor antagonist |
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ISO |
protein:decreased expression:plasma: |
RGD |
PMID:10870116 |
RGD:11522755 |
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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IL6 |
interleukin 6 |
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ISO |
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10870116 PMID:18006695 |
RGD:11522755 |
NCBI chr 7:23,415,922...23,420,767
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IRF4 |
interferon regulatory factor 4 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12079517 PMID:12393648 PMID:18758461 |
RGD:11526160 RGD:11530024 |
NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
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ITGA4 |
integrin subunit alpha 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21093051 |
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NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203
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G |
KLRC4 |
killer cell lectin like receptor C4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr12:10,418,672...10,449,250
Ensembl chr12:10,697,454...10,699,818
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KRAS |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
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NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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LEF1 |
lymphoid enhancer binding factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980
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G |
LOC100979315 |
phorbol-12-myristate-13-acetate-induced protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr18:53,286,590...53,290,913
Ensembl chr18:56,611,098...56,615,449
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G |
LOC100981392 |
leukocyte immunoglobulin-like receptor subfamily A member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr19:51,287,944...51,294,118
Ensembl chr19:60,128,447...60,134,248
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G |
LRRC56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
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NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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MS4A1 |
membrane spanning 4-domains A1 |
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ISO |
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RGD |
PMID:19911856 |
RGD:2316994 |
NCBI chr11:55,691,750...55,706,697
Ensembl chr11:59,134,617...59,149,521
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G |
MTHFR |
methylenetetrahydrofolate reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16706930 |
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NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
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NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
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NRAS |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
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NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
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P2RX7 |
purinergic receptor P2X 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11003599 |
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NCBI chr12:118,731,761...118,786,039
Ensembl chr12:122,102,888...122,154,068
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G |
PECAM1 |
platelet and endothelial cell adhesion molecule 1 |
severity |
ISO |
protein:increased expression:B cell (human) |
RGD |
PMID:12673718 |
RGD:11541127 |
NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
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G |
PLCG2 |
phospholipase C gamma 2 |
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ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia |
ClinVar |
PMID:24869598 PMID:28492532 |
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NCBI chr16:62,383,270...62,561,579
Ensembl chr16:81,812,565...81,984,064
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G |
POLB |
DNA polymerase beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr 8:41,582,370...41,615,950
Ensembl chr 8:39,026,991...39,060,464
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G |
PPP2R5C |
protein phosphatase 2 regulatory subunit B'gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16038780 |
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NCBI chr14:82,383,086...82,549,822
Ensembl chr14:102,206,396...102,372,978
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G |
PRKD2 |
protein kinase D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18758461 |
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NCBI chr19:43,666,591...43,710,858
Ensembl chr19:52,195,303...52,237,731
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16314473 |
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NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15928039 PMID:16358218 PMID:17177198 PMID:17972951 PMID:18759865 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26918529 PMID:27069254 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 More...
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NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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G |
QPCT |
glutaminyl-peptide cyclotransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr2A:37,371,848...37,400,820
Ensembl chr2A:38,136,532...38,165,254
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G |
RBL2 |
RB transcriptional corepressor like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16038780 |
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NCBI chr16:33,674,751...33,731,308
Ensembl chr16:52,759,290...52,816,175
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G |
SF3B1 |
splicing factor 3b subunit 1 |
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ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:23634996 PMID:25741868 PMID:26619011 |
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NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346
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G |
SF3B2 |
splicing factor 3b subunit 2 |
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ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:26619011 |
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NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772
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G |
SP140 |
SP140 nuclear body protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18758461 |
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NCBI chr2B:117,477,923...117,565,367
Ensembl chr2B:236,279,460...236,366,314
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G |
TERT |
telomerase reverse transcriptase |
disease_progression |
ISO |
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RGD |
PMID:17344921 |
RGD:11038662 |
Ensembl chr 5:1,300,960...1,338,872
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G |
TFRC |
transferrin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16904380 |
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NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
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G |
THBD |
thrombomodulin |
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ISO |
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RGD |
PMID:21812019 |
RGD:5685033 |
NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812
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G |
TNF |
tumor necrosis factor |
disease_progression |
ISO |
protein:increased expression:bone marrow, blood, lymphocyte |
RGD |
PMID:12010662 PMID:22945689 |
RGD:10449463 RGD:11041895 |
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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G |
TNFRSF10A |
TNF receptor superfamily member 10a |
susceptibility |
ISO |
DNA:SNP: :1322A>G (human) DNA:missense mutation:cds:p.E228A (c.683A>C) (human) |
RGD |
PMID:15531454 PMID:16217763 |
RGD:11038717 RGD:11038718 |
NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
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G |
TNFRSF11A |
TNF receptor superfamily member 11a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16270354 |
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NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044
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G |
TNFSF11 |
TNF superfamily member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16270354 |
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NCBI chr13:23,750,835...23,784,740
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G |
TNFSF13 |
TNF superfamily member 13 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:15488762 |
RGD:1549466 |
NCBI chr17:7,589,931...7,593,527
Ensembl chr17:7,576,465...7,579,834
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G |
TNFSF8 |
TNF superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 |
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NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822
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G |
TOPBP1 |
DNA topoisomerase II binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr 3:130,667,998...130,729,569
Ensembl chr 3:138,143,893...138,203,363
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G |
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 |
RGD ClinVar |
PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2531845 PMID:2554494 PMID:7478555 PMID:7651740 PMID:7732013 PMID:7737263 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9704930 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10867151 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18685109 PMID:18937320 PMID:19101993 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21115975 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:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22484423 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23028800 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27050224 PMID:27179933 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28160093 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28772286 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30709875 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31533767 PMID:31748977 PMID:31775759 PMID:31881331 PMID:31882575 PMID:32000721 PMID:32126783 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32371905 PMID:32817165 PMID:32906206 PMID:32959997 PMID:33245408 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35820297 PMID:36168441 PMID:36988593 More...
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RGD:11075074 |
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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G |
VDR |
vitamin D receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12446453 |
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NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
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G |
XPO1 |
exportin 1 |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:26619011 |
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NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793
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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 |
RGD:11252204 |
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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G |
ABCG2 |
ATP binding cassette subfamily G member 2 (JR blood group) |
susceptibility |
ISO |
DNA:SNP: :rs6857600(human) |
RGD |
PMID:21918980 |
RGD:11080977 |
NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
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G |
AICDA |
activation induced cytidine deaminase |
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ISO |
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RGD |
PMID:17251349 |
RGD:11039449 |
NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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G |
BCL6 |
BCL6 transcription repressor |
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ISO |
diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region |
RGD |
PMID:11821949 |
RGD:1600111 |
NCBI chr 3:184,748,135...184,772,375
Ensembl chr 3:193,308,296...193,332,124
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G |
BRD2 |
bromodomain containing 2 |
|
ISO |
|
RGD |
PMID:14563639 |
RGD:9586345 |
NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031
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|
G |
BTK |
Bruton tyrosine kinase |
treatment |
ISO |
human cell in a mouse model |
RGD |
PMID:25662332 PMID:28348046 |
RGD:11040764 RGD:124713554 |
NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
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G |
CBX7 |
chromobox 7 |
|
ISO |
|
RGD |
PMID:17374722 |
RGD:11352707 |
NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084
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G |
CD40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:20616215 |
RGD:5490532 |
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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G |
CSF2 |
colony stimulating factor 2 |
treatment |
ISO |
|
RGD |
PMID:8469286 |
RGD:10450244 |
NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
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G |
CSF3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11042651 |
|
NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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G |
EAF2 |
ELL associated factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20564326 |
|
NCBI chr 3:118,936,685...118,996,051
Ensembl chr 3:125,844,338...125,895,416
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G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
severity treatment |
ISO |
|
RGD MouseDO |
PMID:23982173 PMID:29456795 |
RGD:10755356 RGD:126781726 |
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
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G |
IL21R |
interleukin 21 receptor |
|
ISO |
diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region |
RGD |
PMID:11821949 |
RGD:1600111 |
Ensembl chr16:27,774,864...27,821,769
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G |
JAK3 |
Janus kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24837469 |
|
NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
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G |
KAT5 |
lysine acetyltransferase 5 |
severity |
ISO |
|
RGD |
PMID:17728759 |
RGD:9588481 |
NCBI chr11:61,071,118...61,078,667
Ensembl chr11:64,404,572...64,412,667
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G |
LGALS1 |
galectin 1 |
|
ISO |
protein:increased expression:primary tumor (rat) |
RGD |
PMID:16733672 |
RGD:2316550 |
NCBI chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356
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G |
LOC100988550 |
signal transducer and activator of transcription 5A |
|
ISO |
|
RGD |
PMID:27018255 |
RGD:151665817 |
NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783
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G |
NRAS |
NRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14633661 |
|
NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14654083 |
|
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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G |
PTPN1 |
protein tyrosine phosphatase non-receptor type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24531327 |
|
NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421
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G |
TNFSF8 |
TNF superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 |
|
NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822
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G |
TNFSF9 |
TNF superfamily member 9 |
|
ISO |
|
RGD |
PMID:10202049 |
RGD:2317349 |
NCBI chr19:5,558,021...5,562,901
Ensembl chr19:6,476,941...6,483,352
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G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
treatment |
ISO |
|
RGD |
PMID:21481795 |
RGD:11038814 |
NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
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G |
AHR |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35687267 |
|
NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171
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|
G |
AKR1C3 |
aldo-keto reductase family 1 member C3 |
treatment |
ISO |
|
RGD |
PMID:26116659 |
RGD:11541128 |
NCBI chr10:5,079,580...5,157,572
Ensembl chr10:5,081,214...5,139,812
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G |
ATF7IP |
activating transcription factor 7 interacting protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413735 |
|
NCBI chr12:14,373,084...14,504,286
Ensembl chr12:14,789,794...14,900,411
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G |
BCL2L1 |
BCL2 like 1 |
severity |
ISO |
|
RGD |
PMID:18216295 |
RGD:11531108 |
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
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G |
BCR |
BCR activator of RhoGEF and GTPase |
|
ISO |
BCR/ABL fusion |
RGD |
PMID:9310467 |
RGD:41404633 |
|
|
G |
BRD2 |
bromodomain containing 2 |
|
ISO |
|
RGD |
PMID:14563639 |
RGD:9586345 |
NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031
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G |
CCN2 |
cellular communication network factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24154679 |
|
NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
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G |
CCND1 |
cyclin D1 |
|
ISO |
mRNA:increased expression:B cell (mouse) |
RGD |
PMID:23169640 |
RGD:11353783 |
NCBI chr11:64,737,006...64,750,353
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
susceptibility treatment |
ISO |
DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) |
RGD |
PMID:16618932 PMID:21622646 PMID:26104880 |
RGD:11057958 RGD:11251751 RGD:11251772 |
NCBI chr 9:21,803,862...21,831,322
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G |
CYP3A5 |
cytochrome P450 family 3 subfamily A member 5 |
treatment |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:21225912 |
RGD:11353807 |
NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322
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G |
ETV6 |
ETS variant transcription factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15217836 PMID:24413735 PMID:25807284 |
|
NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537
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G |
F13A1 |
coagulation factor XIII A chain |
|
ISO |
protein:increased expression:B lymphoblast: |
RGD |
PMID:16894461 |
RGD:11041855 |
NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961
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G |
F3 |
coagulation factor III, tissue factor |
treatment |
ISO |
|
RGD |
PMID:19874310 |
RGD:11341694 |
NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050
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G |
FH |
fumarate hydratase |
|
ISO |
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
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G |
FLT3 |
fms related receptor tyrosine kinase 3 |
|
ISO |
mRNA,protein:increased expression:bone marrow: |
RGD |
PMID:8562934 |
RGD:11049466 |
NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940
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G |
GATA3 |
GATA binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24141364 |
|
NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272
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|
G |
IDO1 |
indoleamine 2,3-dioxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35687267 |
|
NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
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|
G |
IKZF1 |
IKAROS family zinc finger 1 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations: : |
CTD RGD |
PMID:22699455 PMID:24141364 |
RGD:11075072 |
NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245
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G |
IL5 |
interleukin 5 |
|
ISO |
|
RGD |
PMID:15368290 |
RGD:7241068 |
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
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G |
IRF4 |
interferon regulatory factor 4 |
|
ISO |
|
RGD |
PMID:20585039 PMID:21818355 PMID:25006123 |
RGD:11526159 RGD:11530020 RGD:11530030 |
NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
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G |
IRF8 |
interferon regulatory factor 8 |
|
ISO |
|
RGD |
PMID:20585039 |
RGD:11530030 |
NCBI chr16:66,568,370...66,591,949
Ensembl chr16:85,905,334...85,929,073
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G |
ISX |
intestine specific homeobox |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35687267 |
|
NCBI chr22:16,071,117...16,095,029
Ensembl chr22:33,917,642...33,938,908
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|
G |
LOC100981146 |
cytokine receptor like factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24141364 |
|
NCBI chr X:933,459...957,950
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G |
LOC100988550 |
signal transducer and activator of transcription 5A |
|
ISO |
protein:increased phosphorylation:bone marrow (human) |
RGD |
PMID:27018255 |
RGD:151665817 |
NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783
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G |
MGA |
MAX dimerization protein MGA |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413735 |
|
NCBI chr15:20,560,842...20,710,269
Ensembl chr15:38,839,708...38,948,847
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|
G |
MYB |
MYB proto-oncogene, transcription factor |
disease_progression |
ISO |
mRNA:splice variants:cds: |
RGD |
PMID:21853052 |
RGD:11532669 |
NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194
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|
G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
|
RGD |
PMID:22120021 |
RGD:7207416 |
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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G |
PAX5 |
paired box 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24013638 PMID:30643249 |
|
NCBI chr 9:36,677,369...36,876,678
Ensembl chr 9:37,474,267...37,673,684
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|
G |
PDGFRA |
platelet derived growth factor receptor alpha |
treatment |
ISO |
|
RGD |
PMID:22447844 |
RGD:11075097 |
NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
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G |
RB1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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|
G |
RUNX1 |
RUNX family transcription factor 1 |
onset |
ISO |
DNA:amplification |
RGD |
PMID:21822204 |
RGD:6482828 |
NCBI chr21:21,159,586...21,423,946
Ensembl chr21:34,530,956...34,788,544
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G |
STAT3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19796711 |
|
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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|
G |
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 |
|
Ensembl chr19:1,188,537...1,210,677
|
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G |
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 chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472
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G |
TCF3 |
transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19246562 |
|
Ensembl chr19:1,582,297...1,622,025
|
|
G |
TDO2 |
tryptophan 2,3-dioxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35687267 |
|
NCBI chr 4:148,269,097...148,285,533
Ensembl chr 4:160,085,645...160,102,266
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G |
TFPI |
tissue factor pathway inhibitor |
treatment |
ISO |
|
RGD |
PMID:19874310 |
RGD:11341694 |
NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384
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G |
TNFSF13 |
TNF superfamily member 13 |
|
ISO |
|
RGD |
PMID:15488762 |
RGD:1549466 |
NCBI chr17:7,589,931...7,593,527
Ensembl chr17:7,576,465...7,579,834
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|
G |
TNFSF8 |
TNF superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 |
|
NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822
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G |
TP53 |
tumor protein p53 |
disease_progression |
ISO |
DNA:mutations: : |
RGD |
PMID:22699455 |
RGD:11075072 |
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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G |
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...
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|
NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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|
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G |
WT1 |
WT1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Mixed phenotype acute leukemia with t(v;11q23.3) |
ClinVar |
PMID:25741868 |
|
NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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|
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G |
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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
|
|
|
G |
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 |
|
NCBI chr10:83,185,040...83,353,239
Ensembl chr10:86,837,469...86,912,912
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G |
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:25741868 PMID:28492532 PMID:33471991 |
|
NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
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G |
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 chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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|
G |
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...
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|
Ensembl chr 8:144,267,101...144,276,985
|
|
|
G |
CBL |
Cbl proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
|
|
|
G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
|
|
|
G |
A4GALT |
alpha 1,4-galactosyltransferase (P1PK blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11482875 |
|
NCBI chr22:23,587,378...23,615,467
Ensembl chr22:41,739,062...41,740,123
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|
G |
ARID1A |
AT-rich interaction domain 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
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|
G |
BBC3 |
BCL2 binding component 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18573879 |
|
NCBI chr19:44,203,517...44,215,860
|
|
G |
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...
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|
NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
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|
G |
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:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
|
|
G |
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 chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416
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|
G |
CCT6B |
chaperonin containing TCP1 subunit 6B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr17:21,825,636...21,875,619
Ensembl chr17:22,117,492...22,152,205
|
|
G |
CD40 |
CD40 molecule |
treatment |
ISO |
human cell line in a mouse model |
RGD |
PMID:9192773 |
RGD:11520790 |
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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G |
CD79B |
CD79b molecule |
treatment |
ISO |
human cells in mouse model |
RGD |
PMID:17374736 |
RGD:151665154 |
NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
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G |
FTCD |
formimidoyltransferase cyclodeaminase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400
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G |
GNA13 |
G protein subunit alpha 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr17:58,957,682...59,005,182
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G |
ID3 |
inhibitor of DNA binding 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143595 PMID:23143597 |
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NCBI chr 1:22,748,714...22,750,582
Ensembl chr 1:23,734,263...23,736,175
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G |
MLLT11 |
MLLT11 transcription factor 7 cofactor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31587870 |
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NCBI chr 1:126,408,533...126,417,624
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G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: Burkitt lymphoma |
OMIM ClinVar |
PMID:8220424 PMID:25157968 PMID:27993330 |
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NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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G |
PBX1 |
PBX homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1967982 PMID:17244677 |
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NCBI chr 1:139,985,392...140,311,845
Ensembl chr 1:143,778,701...144,104,797
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G |
PC |
pyruvate carboxylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr11:62,205,644...62,317,917
Ensembl chr11:65,527,662...65,551,396
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
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G |
RET |
ret proto-oncogene |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
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G |
SALL3 |
spalt like transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr18:72,381,249...72,403,789
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G |
SMARCA4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
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G |
TCF3 |
transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1967982 PMID:17244677 |
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Ensembl chr19:1,582,297...1,622,025
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G |
BTK |
Bruton tyrosine kinase |
ameliorates |
ISO |
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RGD |
PMID:28552327 |
RGD:124715478 |
NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
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G |
CD79B |
CD79b molecule |
treatment |
ISO |
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RGD |
PMID:28619981 |
RGD:151665208 |
NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
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G |
IL10 |
interleukin 10 |
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ISO |
DNA:SNP:promoter:-1082G>A (human) |
RGD |
PMID:22628023 |
RGD:7364831 |
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
treatment |
ISO |
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RGD |
PMID:28619981 |
RGD:151665208 |
NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
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G |
CTCF |
CCCTC-binding factor |
disease_progression |
ISO |
mRNA, protein:increased expression:bone marrow, blood (human) |
RGD |
PMID:24393203 |
RGD:151356757 |
NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041
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G |
AK3 |
adenylate kinase 3 |
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ISO |
protein:increased expression:peripheral blood mononuclear cell |
RGD |
PMID:27078856 |
RGD:13842476 |
NCBI chr 9:4,541,984...4,576,341
Ensembl chr 9:4,732,847...4,762,900
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G |
ARHGAP44 |
Rho GTPase activating protein 44 |
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ISO |
mRNA:increased expression: (human) |
RGD |
PMID:36595475 |
RGD:401901275 |
NCBI chr17:38,657,824...38,859,591
Ensembl chr17:43,357,438...43,453,457
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:18368129 PMID:18794803 PMID:19206169 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:24033266 PMID:24451042 PMID:25157968 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29453417 PMID:29595366 More...
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NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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G |
CD40LG |
CD40 ligand |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:9450802 |
RGD:11522717 |
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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G |
CD79B |
CD79b molecule |
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ISO |
protein:decreased expression:blood cells (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) protein:decreased expression:blood, B cell (human) protein:decreased expression:peripheral blood cells (human) |
RGD |
PMID:10090943 PMID:10329919 PMID:10516749 PMID:10753858 |
RGD:11531139 RGD:151665125 RGD:151665152 RGD:151665190 |
NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
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G |
CD86 |
CD86 molecule |
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ISO |
DNA:hypermethylation (human) |
RGD |
PMID:23154584 |
RGD:11354975 |
NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
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G |
FBXW7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:25741868 PMID:26619011 |
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NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
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G |
HRAS |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
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NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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G |
IL5 |
interleukin 5 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21911837 |
RGD:11354912 |
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
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G |
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:20090783 PMID:20123861 PMID:20731705 PMID:21791429 PMID:23897826 PMID:23926303 More...
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RGD:11526156 RGD:11526158 RGD:11530021 RGD:11530026 RGD:11530029 RGD:11530031 |
NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
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NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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G |
LRRC56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
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NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
disease_progression |
ISO |
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RGD |
PMID:20956327 |
RGD:11340590 |
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
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ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
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NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
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G |
NRAS |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
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NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
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G |
PON1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:26254371 |
RGD:11073982 |
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 PMID:16358218 PMID:17972951 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:27069254 PMID:28098151 PMID:30868567 More...
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NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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G |
PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
susceptibility |
ISO |
protein:increased expression:B cell (human) DNA:snp:cds:p.R620W (rs2476601) (human) |
RGD |
PMID:22569400 PMID:23287625 |
RGD:11533998 RGD:11535006 |
NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
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G |
SF3B1 |
splicing factor 3b subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:26619011 |
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NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346
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G |
SF3B2 |
splicing factor 3b subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:26619011 |
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NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772
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G |
STAT3 |
signal transducer and activator of transcription 3 |
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ISO |
protein:increased phosphorylation:peripheral blood mononuclear cell |
RGD |
PMID:29658610 |
RGD:21081544 |
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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G |
TP53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 PMID:2046748 PMID:7478555 PMID:7651740 PMID:7732013 PMID:7737263 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8649776 PMID:8825920 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18685109 PMID:18937320 PMID:19101993 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21115975 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:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22484423 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23028800 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27050224 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28160093 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28772286 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30816478 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31296311 PMID:31300551 PMID:31533767 PMID:31748977 PMID:31775759 PMID:31881331 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32371905 PMID:32817165 PMID:32906206 PMID:33245408 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35820297 PMID:36168441 PMID:36988593 More...
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NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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G |
XPO1 |
exportin 1 |
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ISO |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
PMID:26619011 |
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NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793
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G |
ABCB1 |
ATP binding cassette subfamily B member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21325069 |
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NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
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G |
ABCG2 |
ATP binding cassette subfamily G member 2 (JR blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625222 |
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NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
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G |
ALK |
ALK receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22474449 |
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NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735
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G |
B2M |
beta-2-microglobulin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7688627 |
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NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
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G |
BCAS2 |
BCAS2 pre-mRNA processing factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356265 |
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NCBI chr 1:87,972,721...87,986,819
Ensembl chr 1:123,024,910...123,039,068
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G |
BCL2 |
BCL2 apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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G |
BCL6 |
BCL6 transcription repressor |
disease_progression |
ISO |
diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region |
RGD |
PMID:11821949 PMID:15701085 |
RGD:11530023 RGD:1600111 |
NCBI chr 3:184,748,135...184,772,375
Ensembl chr 3:193,308,296...193,332,124
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
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NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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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...
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NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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G |
BTK |
Bruton tyrosine kinase |
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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...
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NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
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G |
CARD11 |
caspase recruitment domain family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutations:exons:multiple (human) |
CTD RGD |
PMID:18323416 PMID:25049379 PMID:26192916 |
RGD:11100036 |
NCBI chr 7:3,166,788...3,304,729
Ensembl chr 7:3,258,736...3,332,999
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G |
CAT |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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G |
CCDC86 |
coiled-coil domain containing 86 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23828858 |
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NCBI chr11:56,105,239...56,114,322
Ensembl chr11:59,546,050...59,555,028
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G |
CD22 |
CD22 molecule |
treatment |
ISO |
|
RGD |
PMID:25708834 |
RGD:151665133 |
NCBI chr19:32,265,278...32,294,122
Ensembl chr19:41,012,222...41,030,713
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G |
CD40 |
CD40 molecule |
susceptibility |
ISO |
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) |
RGD |
PMID:20473910 |
RGD:5490541 |
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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G |
CD79A |
CD79a molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25049379 |
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NCBI chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711
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G |
CD79B |
CD79b molecule |
treatment severity |
ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma DNA:missense mutation:multiple, exon 5 (human) |
RGD ClinVar |
PMID:11160144 PMID:25708834 PMID:31402495 PMID:31609782 |
RGD:151665133 RGD:151665203 |
NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
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G |
CDK1 |
cyclin dependent kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19223503 |
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NCBI chr10:57,314,692...57,331,261
Ensembl chr10:59,647,993...59,664,434
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21325069 |
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NCBI chr 9:21,803,862...21,831,322
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G |
CHEK2 |
checkpoint kinase 2 |
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ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532 |
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NCBI chr22:9,757,038...9,811,171
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G |
CLTC |
clathrin heavy chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22474449 |
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NCBI chr17:53,685,865...53,761,008
Ensembl chr17:58,529,750...58,603,636
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G |
CREBBP |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
PMID:24755471 PMID:28481359 PMID:30239046 PMID:33323405 |
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NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
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G |
DICER1 |
dicer 1, ribonuclease III |
disease_progression |
ISO |
|
RGD |
PMID:25195038 |
RGD:149735347 |
NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940
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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...
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NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
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G |
ETV6 |
ETS variant transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
PMID:35053500 |
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NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537
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G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20081860 PMID:28438623 |
RGD:126779596 |
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
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G |
FAS |
Fas cell surface death receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26192916 |
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NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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G |
FOXO1 |
forkhead box O1 |
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ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
PMID:26314988 PMID:29721381 PMID:35079069 |
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NCBI chr13:21,763,729...21,874,279
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G |
GLI1 |
GLI family zinc finger 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625222 |
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NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
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G |
GSTM1 |
glutathione S-transferase mu 1 |
treatment |
ISO |
|
RGD |
PMID:20303013 |
RGD:10450835 |
Ensembl chr 1:127,979,238...128,010,411
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G |
GSTP1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:SNP: :(rs1695)(human) |
RGD |
PMID:19338043 |
RGD:8547939 |
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
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G |
ICAM1 |
intercellular adhesion molecule 1 |
disease_progression |
ISO |
proteion:increased expression:serum: |
RGD |
PMID:12598355 |
RGD:11354982 |
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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G |
IL21R |
interleukin 21 receptor |
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ISO |
diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region |
RGD |
PMID:11821949 |
RGD:1600111 |
Ensembl chr16:27,774,864...27,821,769
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G |
IMMP2L |
inner mitochondrial membrane peptidase subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356265 |
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NCBI chr 7:102,647,212...103,536,293
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G |
IRF4 |
interferon regulatory factor 4 |
disease_progression |
ISO |
|
RGD |
PMID:15701085 |
RGD:11530023 |
NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
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G |
KMT2D |
lysine methyltransferase 2D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21804550 |
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NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
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G |
LOC100991644 |
low affinity immunoglobulin gamma Fc region receptor II-a |
disease_progression |
ISO |
DNA:SNP: :rs1801274 (human) |
RGD |
PMID:27282998 |
RGD:11344967 |
NCBI chr 1:136,892,311...136,906,450
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G |
MALT1 |
MALT1 paracaspase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr18:52,060,878...52,141,985
Ensembl chr18:55,395,462...55,473,574
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G |
MKI67 |
marker of proliferation Ki-67 |
disease_progression |
ISO |
|
RGD |
PMID:20919850 |
RGD:6483541 |
NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
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G |
MTHFR |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) |
RGD |
PMID:17712558 |
RGD:6893517 |
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356265 |
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NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
severity |
ISO |
DNA:missense mutation:L265P (human) ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
RGD ClinVar |
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 PMID:31609782 More...
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RGD:151665203 |
NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
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G |
NBN |
nibrin |
|
ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
PMID:9590180 PMID:16415040 PMID:28492532 |
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NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307
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G |
NECTIN2 |
nectin cell adhesion molecule 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356265 |
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NCBI chr19:41,794,037...41,837,047
Ensembl chr19:50,399,668...50,443,024
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G |
NF1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
PMID:21390130 PMID:22158541 PMID:23292937 |
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NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
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G |
NFKBIA |
NFKB inhibitor alpha |
no_association |
ISO |
SNA:polymorphism(s) |
RGD |
PMID:15198731 |
RGD:2298905 |
NCBI chr14:16,155,331...16,158,588
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G |
NOM1 |
nucleolar protein with MIF4G domain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22474449 |
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NCBI chr 7:148,568,075...148,588,155
Ensembl chr 7:160,262,174...160,282,110
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G |
PDPK1 |
3-phosphoinositide dependent protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr16:1,394,447...1,463,735
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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G |
PIK3CB |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr 3:135,685,120...135,867,096
Ensembl chr 3:143,288,563...143,431,314
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G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633
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G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614
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G |
PMS2 |
PMS1 homolog 2, mismatch repair system component |
|
ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
|
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NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
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G |
PRDM1 |
PR/SET domain 1 |
disease_progression |
ISO |
|
RGD |
PMID:22321048 |
RGD:150530470 |
NCBI chr 6:103,899,410...103,923,389
Ensembl chr 6:107,773,229...107,796,815
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G |
PRDX3 |
peroxiredoxin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr10:115,738,346...115,749,482
Ensembl chr10:119,162,714...119,173,845
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G |
PRDX4 |
peroxiredoxin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr X:16,266,501...16,285,458
Ensembl chr X:23,641,701...23,660,267
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G |
PRMT5 |
protein arginine methyltransferase 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31123343 |
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NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018
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G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
PMID:10468583 PMID:10555148 PMID:10698513 PMID:10866302 PMID:10866658 PMID:11035045 PMID:11504908 PMID:12297295 PMID:15016963 PMID:15254419 PMID:15647370 PMID:17526800 PMID:17526801 PMID:18725974 PMID:18986487 PMID:19265751 PMID:19366826 PMID:19903786 PMID:20085938 PMID:20453058 PMID:20533527 PMID:20619739 PMID:21194675 PMID:22162582 PMID:22162589 PMID:22628360 PMID:23335809 PMID:24778394 PMID:24905788 PMID:25157968 PMID:25336918 PMID:25448482 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29874181 More...
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NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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G |
RANGAP1 |
Ran GTPase activating protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27150054 |
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NCBI chr22:22,142,644...22,199,268
Ensembl chr22:40,233,357...40,272,671
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G |
RPS6KB1 |
ribosomal protein S6 kinase B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19223503 |
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NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653
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G |
SEC31A |
SEC31 homolog A, COPII coat complex component |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22474449 |
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NCBI chr 4:41,312,389...41,384,924
Ensembl chr 4:47,173,348...47,235,812
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G |
SF3A1 |
splicing factor 3a subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
PMID:22037554 PMID:26498691 PMID:33563892 |
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NCBI chr22:11,369,772...11,392,998
Ensembl chr22:29,172,536...29,194,735
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G |
SKP2 |
S-phase kinase associated protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18850583 |
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NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311
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G |
SMURF2 |
SMAD specific E3 ubiquitin protein ligase 2 |
|
ISO |
|
MouseDO |
|
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NCBI chr17:58,638,995...58,759,443
Ensembl chr17:63,731,386...63,809,298
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G |
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 |
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NCBI chr16:10,196,432...10,198,205
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G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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G |
SOD3 |
superoxide dismutase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr 4:19,195,941...19,201,298
Ensembl chr 4:24,485,059...24,485,781
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G |
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:36240433 More...
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NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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G |
SYK |
spleen associated tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33782605 |
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NCBI chr 9:61,859,767...61,956,619
Ensembl chr 9:89,959,599...90,056,101
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G |
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...
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NCBI chr 3:174,067,964...174,251,913
Ensembl chr 3:182,247,335...182,429,619
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G |
TP53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
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:16489069 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:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:36988593 More...
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NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TXNIP |
thioredoxin interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr 1:121,763,312...121,767,468
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LOC100989105 |
signal transducer and activator of transcription 5B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29200404 |
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NCBI chr17:15,040,303...15,116,682
Ensembl chr17:15,306,418...15,336,463
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SETD2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:27600764 |
RGD:150429643 |
NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
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BCL10 |
BCL10 immune signaling adaptor |
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ISO |
ClinVar Annotator: match by term: MALT lymphoma |
OMIM ClinVar |
PMID:9989495 PMID:10380920 PMID:10408400 |
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NCBI chr 1:117,823,388...117,834,314
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BIRC3 |
baculoviral IAP repeat containing 3 |
treatment |
ISO |
DNA:gene fusion: (human) |
RGD |
PMID:21465313 |
RGD:153305955 |
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
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CXCR4 |
C-X-C motif chemokine receptor 4 |
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ISO |
protein:increased expression: mucosa-associated lymphoid tissue (human) |
RGD |
PMID:27544389 |
RGD:152023632 |
NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
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ATP6AP1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26691987 |
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NCBI chr X:143,870,421...143,878,288
Ensembl chr X:153,740,751...153,748,621
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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26691987 |
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NCBI chr 8:19,422,423...19,446,799
Ensembl chr 8:16,369,937...16,394,284
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BCL10 |
BCL10 immune signaling adaptor |
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ISO |
ClinVar Annotator: match by term: Follicular lymphoma |
ClinVar |
PMID:9989495 |
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NCBI chr 1:117,823,388...117,834,314
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BCL2 |
BCL2 apoptosis regulator |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:translocation: ;t(14;18)(q32;q21) |
RGD CTD |
PMID:3287162 PMID:12855623 PMID:16671111 |
RGD:1599473 RGD:734639 |
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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CD40 |
CD40 molecule |
susceptibility |
ISO |
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) |
RGD |
PMID:20473910 |
RGD:5490541 |
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CD40LG |
CD40 ligand |
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ISO |
human gene in a mouse model |
RGD |
PMID:25582824 |
RGD:11344981 |
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CD79B |
CD79b molecule |
treatment |
ISO |
human cells in mouse model |
RGD |
PMID:17374736 |
RGD:151665154 |
NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
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CREBBP |
CREB binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24362818 |
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NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
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EBF1 |
EBF transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24362818 |
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NCBI chr 5:154,091,337...154,492,474
Ensembl chr 5:160,708,235...161,108,568
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EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24362818 |
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NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
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IRF4 |
interferon regulatory factor 4 |
severity |
ISO |
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RGD |
PMID:17296585 |
RGD:11530032 |
NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
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KDSR |
3-ketodihydrosphingosine reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:8417785 PMID:25526675 |
RGD:1598985 |
NCBI chr18:56,686,914...56,727,681
Ensembl chr18:60,001,637...60,036,292
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KMT2D |
lysine methyltransferase 2D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24362818 |
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NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
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