RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: multiple myeloma
Accession: DOID:9538
browse the term
Definition: A myeloid neoplasm that is located_in the plasma cells in bone marrow. (DO)
Synonyms: exact_synonym: Kahler disease; Myelomatoses; Myelomatosis; multiple myelomas; myeloma; plasma cell myeloma; plasma cell myelomas
narrow_synonym: AL; AL AMYLOIDOSIS; AMYLOIDOSIS, SYSTEMIC; Multiple Myeloma, Translocation 11,14 Type
related_synonym: Multiple Myeloma, Resistance To; Multiple Myeloma, t(11;14) Type, Susceptibility To
primary_id: MESH:D009101
alt_id: MIM:254500
xref: EFO:0001378 ; GARD:7108 ; ICD10CM:C90.0 ; ICD9CM:203.0 ; NCI:C125416 ; NCI:C125417 ; NCI:C3242 ; ORDO:29073
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Abcg2
ATP binding cassette subfamily G member 2
treatment
ISO
RGD
PMID:26314844 PMID:16917002
RGD:11081075 , RGD:11081144
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Ace
angiotensin I converting enzyme
ISO
protein:increased activity:serum
RGD
PMID:22345095
RGD:11038914
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Alb
albumin
disease_progression
ISO
RGD
PMID:17096887
RGD:11035276
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alkbh5
alkB homolog 5, RNA demethylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Arid4a
AT-rich interaction domain 4A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Aurka
aurora kinase A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Myelomatosis protein:increased expression:serum
ClinVar RGD
PMID:26619011 PMID:32856850
RGD:329955356
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bard1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12429644 PMID:14656874
RGD:11353847
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bcl2l10
Bcl2-like 10
ISO
protein:increased expression:bone marrow :
RGD
PMID:27455953
RGD:14392808
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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Bcorl1
BCL6 co-repressor-like 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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Bnip3
BCL2 interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18172295
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31336229 PMID:31891627 PMID:33040082 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 PMID:22666503 PMID:23451180 PMID:25741868 PMID:28492532 PMID:30883759 PMID:32398771 PMID:33646313 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Btg1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
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Cbl
Cbl proto-oncogene
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:23948411
RGD:11038794
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cbx7
chromobox 7
susceptibility
ISO
DNA:snp:intron:c.113+3502C>T (human) (rs877529) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23955597 PMID:23955597
RGD:11352716
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccn1
cellular communication network factor 1
exacerbates
ISO
mRNA, protein:increased expression:bone marrow (human) mRNA,protein:increased expression:bone marrow (human)
RGD
PMID:28035364 PMID:25061178
RGD:329845528 , RGD:329845546
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Ccnd1
cyclin D1
susceptibility
ISO
DNA:snp:exon:c.870G>A (rs603965) (human) ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 PMID:15755896 PMID:23502783 More...
RGD:1581171 , RGD:11353784
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccnd2
cyclin D2
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Ccnd3
cyclin D3
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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Cd40
CD40 molecule
treatment
ISO
human cells in a mouse model
RGD
PMID:10866315
RGD:11522720
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:15565183 PMID:22403003 PMID:27243341
RGD:11352240 , RGD:11352251 , RGD:11352268
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd46
CD46 molecule
ISO
protein:increased expression:plasma cell (human)
RGD
PMID:16728275
RGD:11352814
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:bone marrow, plasma cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16611307 PMID:22705596
RGD:11354971
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdk4
cyclin-dependent kinase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 More...
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:hypermethylation:: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16008847 PMID:12681979
RGD:11252185
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2c
cyclin-dependent kinase inhibitor 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 5:124,411,123...124,416,278
Ensembl chr 5:124,411,124...124,416,278
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Cfhr1
complement factor H-related 1
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:16930142
RGD:4892645
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Crbn
cereblon
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma
CTD ClinVar
PMID:26186254
NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7540856 PMID:8104070 PMID:8555506
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7534716 PMID:7540856
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyld
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)
RGD
PMID:18285692
RGD:11352726
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment no_association
ISO
DNA:polymorphisms: :
RGD
PMID:17666363 PMID:20684753
RGD:11352748 , RGD:11352804
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
no_association
ISO
DNA:polymorphisms: :
RGD
PMID:20684753
RGD:11352804
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Dsg2
desmoglein 2
disease_progression
ISO
RGD
PMID:34245117
RGD:401851080
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Eif1ax
eukaryotic translation initiation factor 1A, X-linked
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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Eng
endoglin
severity
ISO
protein:increased expression:serum:
RGD
PMID:23576184
RGD:11041181
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:SNP:exon:rs2234922 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996
RGD:11252116 , RGD:11252121 , RGD:11252122
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
DNA:SNP: :rs735482 (human)
RGD
PMID:21435719
RGD:10450871
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression sexual_dimorphism
ISO
DNA:polymorphism: :p.K751Q (rs13181) (human) DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)
RGD
PMID:22183071 PMID:17131345
RGD:11252199 , RGD:401827277
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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Faslg
Fas ligand
disease_progression
ISO
RGD
PMID:16321857
RGD:11049149
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fcgr2a
Fc gamma receptor 2A
disease_progression susceptibility
ISO
DNA:polymorphism: :rs1801274(human)
RGD
PMID:25850245 PMID:17315188
RGD:11040778 , RGD:11040938
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelomatosis
CTD ClinVar
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18642369 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:21936542 PMID:22045636 PMID:23972473 PMID:24075385 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgg
fibrinogen gamma chain
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Flt3
Fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:26521986
RGD:11075232
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:increased expression:bone marrow
RGD
PMID:34274946
RGD:329901767
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8599825
RGD:11352777
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gstm1
glutathione S-transferase mu 1
severity no_association
ISO IAGP
RGD
PMID:17653713 PMID:15136237
RGD:10450826 , RGD:10450846
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
disease_progression no_association treatment
ISO
DNA:polymorphism:cds:p.I105V(human) DNA:polymorphism: :
RGD
PMID:23953887 PMID:18061666 PMID:17512053
RGD:10755413 , RGD:10755419 , RGD:11075094
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
susceptibility no_association
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:15136237 PMID:12624497
RGD:10450846 , RGD:10450847
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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H19
H19 imprinted maternally expressed transcript
severity
ISO
RNA:decrased expression:blood serum (human)
RGD
PMID:29470951
RGD:156430335
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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H1f4
H1.4 linker histone, cluster member
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
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H3c1
H3 clustered histone 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr17:41,368,379...41,368,902
Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856
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Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hfe
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation, haplotype:cds:p.C282Y (human)
RGD
PMID:10383894
RGD:8694350
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hk1
hexokinase 1
ISO
RGD
PMID:19996089
RGD:11353882
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Myelomatosis ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12855565
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:serum:
RGD
PMID:7834632 PMID:7686390
RGD:11354981 , RGD:11520780
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Myelomatosis
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...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Igf2r
insulin-like growth factor 2 receptor
ISO
protein:increased expression:serum,urine:
RGD
PMID:29940770
RGD:14985218
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Il10
interleukin 10
disease_progression
ISO
DNA:SNP, polymorphisms:promoter:-1082G>A, (human) protein:increased expression:serum
RGD
PMID:11307152 PMID:11022130
RGD:11041888 , RGD:11049458
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-511C>T (human) DNA:SNP:promoter:-889C>T (human)
RGD
PMID:25469832 PMID:17926179 PMID:1777241
RGD:11049156 , RGD:11051973 , RGD:11059513
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human)
RGD
PMID:17926179
RGD:11051973
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
no_association
ISO
DNA:snp: :11100C>T (human) DNA:repeats:intron:
RGD
PMID:17926179 PMID:10848780
RGD:11051973 , RGD:11522764
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il4r
interleukin 4 receptor
susceptibility
ISO
DNA:SNP: :-228120T>C(rs2107356)(human)
RGD
PMID:17315188
RGD:11040938
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8520508 PMID:12855565 PMID:19330649
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Irf4
interferon regulatory factor 4
disease_progression treatment
ISO
DNA:translocation CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18568025 PMID:10557056 PMID:17690696 PMID:21707574
RGD:11526161 , RGD:11530019 , RGD:11530055
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Irf8
interferon regulatory factor 8
ISO
DNA:hypermethylation
RGD
PMID:23114132
RGD:329902071
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Kdm5c
lysine demethylase 5C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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Kmt2c
lysine methyltransferase 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 PMID:28492532 More...
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30891959 PMID:16321859 More...
RGD:1581756
NCBI chr 4:178,185,418...178,218,484
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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Lig4
DNA ligase 4
ISO
DNA:polymorphisms CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis
OMIM CTD ClinVar RGD
PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:27063650 PMID:27612988 PMID:28492532 PMID:12471202 More...
RGD:1600305
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Maf
MAF bZIP transcription factor
ISS
OMIM:254500
MouseDO
NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:polymorphisms:cds:p.E148Q,M694V(human)
RGD
PMID:25202401
RGD:11531123
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
RGD
PMID:11830493
RGD:2317526
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
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Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
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Mga
MAX dimerization protein MGA
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Mir155
microRNA 155
disease_progression
ISO
miRNA:decreased expression:serum
RGD
PMID:25497370 PMID:28446295
RGD:21079441 , RGD:24922226
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir17
microRNA 17
disease_progression
ISO
miRNA:increased expression:plasma cell
RGD
PMID:23718138
RGD:329337383
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir19a
microRNA 19a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
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Mir27a
microRNA 27a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
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Mir320a
microRNA 320a
ameliorates
ISO
human gene in mouse model
RGD
PMID:27086852
RGD:155882577
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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Mir92a1
microRNA 92a-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413
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Mst1r
macrophage stimulating 1 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:missense mutations:cds:677C>T, 1298A>C (human)
RGD
PMID:24839819
RGD:10449397
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66G>A(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9949172
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Ncor2
nuclear receptor co-repressor 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nfkbia
NFKB inhibitor alpha
ISO
RGD
PMID:16540234 PMID:12377412
RGD:2298898 , RGD:2298895
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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Nono
non-POU domain containing, octamer-binding
exacerbates
ISO
mRNA:increased expression: (human)
RGD
PMID:32410217
RGD:155900765
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Notch2
notch receptor 2
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:14726396
RGD:1580763
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Nox1
NADPH oxidase 1
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nqo1
NAD(P)H quinone dehydrogenase 1
no_association
ISO
DNA:missense mutation:cds:p.P187S (human) DNA:missense mutation:cds:p.P187S (609C>T) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:18156703 PMID:18061666
RGD:10769348 , RGD:10755419
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nras
NRAS proto-oncogene, GTPase
treatment
ISO
DNA:mutation: : ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25073507 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 PMID:33681212 PMID:36130886 PMID:24335104 More...
RGD:11535049
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nuak1
NUAK family kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873845
NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21917757
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pf4
platelet factor 4
ameliorates
ISO
RGD
PMID:21693026
RGD:329901828
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Pml
PML nuclear body scaffold
severity
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:22906876
RGD:41404686
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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Polr1g
RNA polymerase I subunit G
sexual_dimorphism
ISO
DNA:SNP:exon 1: p.G-21A (rs967591) (human)
RGD
PMID:17131345
RGD:401827277
NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
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Pon1
paraoxonase 1
severity treatment susceptibility
ISO
protein:decreased activity:serum (human) DNA:missense mutation:cds:p.Q192R (human)
RGD
PMID:25520116 PMID:22348216 PMID:15136237
RGD:11552578 , RGD:11040544 , RGD:10450846
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pramex1
PRAME like, X-linked 1
severity
ISO
associated with bortezomib treatment;mRNA:increased expression:bone marrow (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16179254 PMID:24791872
RGD:11535030
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29158558
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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Psors1c2
psoriasis susceptibility 1 candidate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11054717
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ranbp2
RAN binding protein 2
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:19171422
RGD:9835349
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Rbbp8
RB binding protein 8, endonuclease
exacerbates
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:30622325
RGD:401940173
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Rbp1
retinol binding protein 1
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:28492532
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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RT1-CE16
RT1 class I, locus CE16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17283154
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Runx1
RUNX family transcription factor 1
ISO
mRNA:splice variant
RGD
PMID:12560229
RGD:6482834
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Sgk1
serum/glucocorticoid regulated kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15908783 PMID:15908783
RGD:1581238
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sparc
secreted protein acidic and cysteine rich
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:hypermethylation: :
CTD RGD
PMID:18172295 PMID:23699600
RGD:11073605
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16208410
RGD:1581367
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tet3
tet methylcytosine dioxygenase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:21654517
RGD:11062101
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tgfb1
transforming growth factor, beta 1
disease_progression
ISO
DNA:hypermethylation: : protein:decreased expression:serum:
RGD
PMID:23699600 PMID:22560388
RGD:11073605 , RGD:11073614
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
treatment no_association
ISO
DNA:SNP:promoter:-238G>A (human) DNA:SNP:promoter:-308G>A (human)
RGD
PMID:12200397 PMID:12815949
RGD:10449450 , RGD:10449453
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b
TNF receptor superfamily member 10b
treatment
ISO
RGD
PMID:16531263
RGD:11038719
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf17
TNF receptor superfamily member 17
ISO
RGD
PMID:15692072
RGD:2317306
NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53
tumor protein p53
disease_progression treatment
ISO
DNA:polymorphism:cds:p.R72P(human) protein:increased expression:nucleus: DNA:deletion: : ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:3784963 PMID:7478555 PMID:7651740 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7791795 PMID:7881428 PMID:7887414 PMID:7969167 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8276238 PMID:8308926 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8816796 PMID:9020384 PMID:9047394 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9482117 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10732753 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11904319 PMID:11920959 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22484423 PMID:22666503 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25952993 PMID:25961455 PMID:26014290 PMID:26022348 PMID:26066407 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26655088 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31212162 PMID:31559875 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:33372952 PMID:33471991 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:36219266 PMID:36988593 PMID:24611901 PMID:22261445 PMID:12745272 More...
RGD:11073716 , RGD:11073728 , RGD:11075073
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trnt1
tRNA nucleotidyl transferase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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Tyms
thymidylate synthetase
treatment no_association
ISO
DNA:polymorphism: : DNA:repeats:5'UTR:
RGD
PMID:17512053 PMID:17655928
RGD:11075094 , RGD:11075095
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Ulk4
unc-51 like kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22120009
NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924
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Vegfa
vascular endothelial growth factor A
susceptibility
ISO
DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human)
RGD
PMID:24687381
RGD:11079182
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xdh
xanthine dehydrogenase
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Xpo5
exportin 5
severity
ISO
DNA:snp:3' utr:c.*659A>C (rs11077) (human)
RGD
PMID:22539802
RGD:11041735
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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Xrcc3
X-ray repair cross complementing 3
disease_progression
ISO
DNA:SNP,haplotype:: p.T241M (rs861535) (Human)
RGD
PMID:17131345
RGD:401827277
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNPs:multiple (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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Xrcc5
X-ray repair cross complementing 5
susceptibility
ISO
DNA:SNP:3'-UTR (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018
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Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Ythdf1
YTH N6-methyladenosine RNA binding protein F1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
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Yy1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all