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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:Paraproteinemias
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Accession:DOID:9003571 term browser browse the term
Definition:A group of related diseases characterized by an unbalanced or disproportionate proliferation of immunoglobulin-producing cells, usually from a single clone. These cells frequently secrete a structurally homogeneous immunoglobulin (M-component) and/or an abnormal immunoglobulin.
Synonyms:exact_synonym: Monoclonal Gammapathy;   Monoclonal Gammopathies;   Monoclonal Gammopathy;   Paraimmunoglobulinemia;   Paraimmunoglobulinemias;   Paraproteinemia;   Plasma Cell Dyscrasia;   monoclonal gammapathies;   plasma cell dyscrasias
 primary_id: MESH:D010265


show annotations for term's descendants           Sort by:
Paraproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:26619011 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More... NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LIG4 DNA ligase 4 IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 More... NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility IAGP associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G CD86 CD86 molecule IEP associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) RGD PMID:23840845 RGD:11354974 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP associated with hepatitis C; protein:increased expression:serum RGD PMID:18775023 RGD:27095893 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G IFNL3 interferon lambda 3 severity IAGP associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:24293567 RGD:11528546 NCBI chr19:39,243,455...39,245,250
Ensembl chr19:39,243,455...39,245,250 		JBrowse link
G IFNL4 interferon lambda 4 (gene/pseudogene) severity IAGP associated with Hepatitis C, Chronic;DNA:SNP:intron: (rs12979860) (human) RGD PMID:24293567 RGD:11528546 NCBI chr19:39,246,314...39,248,856
Ensembl chr19:39,246,314...39,248,856 		JBrowse link
G TCN2 transcobalamin 2 IEP associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271 		JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AICDA activation induced cytidine deaminase IEP associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) RGD PMID:26219420 RGD:30296664 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G TSLP thymic stromal lymphopoietin IEP associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chr 5:111,070,062...111,078,026
Ensembl chr 5:111,070,062...111,078,026 		JBrowse link
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR3A Fc gamma receptor IIIa treatment IAGP DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
lymphoplasmacytic lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 disease_progression IDA DNA:mutation:cds:1013C>G(p.S338X)(human) RGD PMID:24711662 RGD:11352304 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G FCGR3A Fc gamma receptor IIIa disease_progression
treatment		 IAGP DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)		 RGD PMID:21564078 PMID:15659493 RGD:11040774, RGD:11352262 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G GPX3 glutathione peroxidase 3 IEP protein:increased expression:bone marrow RGD PMID:32763516 RGD:401827827 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G IL10 interleukin 10 IAGP DNA:SNPs: :multiple RGD PMID:19573080 RGD:11049165 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL6 interleukin 6 no_association IAGP DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
DNA:SNPs: :multiple		 RGD PMID:19573080 PMID:19573080 RGD:11049165, RGD:11049165 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IRF4 interferon regulatory factor 4 IEP RGD PMID:23355206 RGD:11530052 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic		 CTD
ClinVar
OMIM		 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
monoclonal gammopathy of uncertain significance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISS MouseDO NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G NEFH neurofilament heavy chain IDA associated with Peripheral Nervous System Diseases RGD PMID:12536221 RGD:9693726 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
multiple myeloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 (JR blood group) treatment IMP
IEP		 RGD PMID:26314844 PMID:16917002 RGD:11081075, RGD:11081144 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628 		JBrowse link
G ACE angiotensin I converting enzyme IDA protein:increased activity:serum RGD PMID:22345095 RGD:11038914 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ALB albumin disease_progression IEP RGD PMID:17096887 RGD:11035276 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G ALKBH5 alkB homolog 5, RNA demethylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr17:18,183,828...18,209,954
Ensembl chr17:18,183,078...18,209,954 		JBrowse link
G APOE apolipoprotein E treatment IDA RGD PMID:22348216 RGD:11040544 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G ARID4A AT-rich interaction domain 4A IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:58,298,555...58,373,876
Ensembl chr14:58,298,504...58,373,887 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102 		JBrowse link
G AURKA aurora kinase A IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr20:56,369,390...56,392,215
Ensembl chr20:56,369,389...56,392,337 		JBrowse link
G B2M beta-2-microglobulin IEP
IAGP		 protein:increased expression:serum
ClinVar Annotator: match by term: Myelomatosis		 ClinVar
RGD		 PMID:26619011 PMID:32856850 RGD:329955356 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683 		JBrowse link
G BCL2 BCL2 apoptosis regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BCL2L1 BCL2 like 1 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12429644 PMID:14656874 RGD:11353847 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989 		JBrowse link
G BCL2L10 BCL2 like 10 IEP
IDA		 protein:increased expression:bone marrow : RGD PMID:27455953 PMID:27455953 RGD:14392808, RGD:14392808 NCBI chr15:52,109,263...52,112,775
Ensembl chr15:52,109,263...52,112,775 		JBrowse link
G BCORL1 BCL6 corepressor like 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:129,980,313...130,058,071
Ensembl chr  X:129,981,107...130,058,071 		JBrowse link
G BNIP3 BCL2 interacting protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chr10:131,967,684...131,981,923
Ensembl chr10:131,967,684...131,981,967 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 ClinVar PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BTG1 BTG anti-proliferation factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr12:92,140,278...92,145,846
Ensembl chr12:92,140,278...92,145,846 		JBrowse link
G CBL Cbl proto-oncogene IEP mRNA:decreased expression:mononuclear cell: RGD PMID:23948411 RGD:11038794 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CBX7 chromobox 7 susceptibility IAGP
EXP		 DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23955597 PMID:23955597 RGD:11352716 NCBI chr22:39,130,772...39,152,680
Ensembl chr22:39,120,167...39,152,680 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCN1 cellular communication network factor 1 exacerbates IEP 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 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589 		JBrowse link
G CCND1 cyclin D1 susceptibility IEP
IAGP
EXP		 ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
DNA:snp:exon:c.870G>A (rs603965) (human)		 ClinVar
OMIM
CTD
RGD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... RGD:1581171, RGD:11353784 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CCND2 cyclin D2 IEP RGD PMID:15755896 RGD:1581171 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CCND3 cyclin D3 IEP RGD PMID:15755896 RGD:1581171 NCBI chr 6:41,934,933...42,050,035
Ensembl chr 6:41,934,934...42,050,357 		JBrowse link
G CD40 CD40 molecule treatment IMP human cells in a mouse model RGD PMID:10866315 RGD:11522720 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand treatment
disease_progression		 ISO
IEP
IDA		 protein:increased expression:serum (human) RGD PMID:15565183 PMID:27243341 PMID:22403003 RGD:11352240, RGD:11352268, RGD:11352251 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CD46 CD46 molecule IEP protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CD86 CD86 molecule severity IEP
EXP		 protein:increased expression:bone marrow, plasma cell (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16611307 PMID:22705596 RGD:11354971 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression IDA
EXP		 DNA:hypermethylation::
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16008847 PMID:12681979 RGD:11252185 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G CFHR1 complement factor H related 1 treatment IDA RGD PMID:22348216 RGD:11040544 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159 		JBrowse link
G CHI3L1 chitinase 3 like 1 severity IEP protein:increased secretion:serum (human) RGD PMID:16930142 RGD:4892645 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704 		JBrowse link
G CRBN cereblon EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma		 CTD
ClinVar		 PMID:26186254 NCBI chr 3:3,149,633...3,179,717
Ensembl chr 3:3,144,628...3,179,727 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CSF2 colony stimulating factor 2 EXP CTD Direct Evidence: therapeutic CTD PMID:7540856 PMID:8104070 PMID:8555506 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:7534716 PMID:7540856 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G CYLD-AS2 CYLD antisense RNA 2 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:50,783,859...50,803,345
Ensembl chr16:50,783,859...50,803,338 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility IAGP DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) RGD PMID:18285692 RGD:11352726 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 treatment
no_association		 IAGP DNA:polymorphisms: : RGD PMID:17666363 PMID:20684753 RGD:11352748, RGD:11352804 NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547 		JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 no_association IAGP DNA:polymorphisms: : RGD PMID:20684753 RGD:11352804 NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865 		JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:72,752,169...72,781,900
Ensembl chr13:72,752,169...72,782,096 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DSG2 desmoglein 2 disease_progression IEP RGD PMID:34245117 RGD:401851080 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:20,124,525...20,141,838
Ensembl chr  X:20,124,525...20,141,838 		JBrowse link
G ENG endoglin severity IEP protein:increased expression:serum: RGD PMID:23576184 RGD:11041181 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G EPHX1 epoxide hydrolase 1 no_association
susceptibility		 IAGP
EXP		 CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:rs2234922 (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)		 CTD
RGD		 PMID:16949155 PMID:19736056 PMID:24521996 PMID:16949155 RGD:11252116, RGD:11252122, RGD:11252121 NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment IAGP DNA:SNP: :rs735482 (human) RGD PMID:21435719 RGD:10450871 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression
sexual_dimorphism 		IAGP DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)		 RGD PMID:22183071 PMID:17131345 RGD:11252199, RGD:401827277 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERF ETS2 repressor factor IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G FASLG Fas ligand disease_progression IEP RGD PMID:16321857 RGD:11049149 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FCGR2A Fc gamma receptor IIa disease_progression
susceptibility		 IAGP DNA:polymorphism: :rs1801274(human) RGD PMID:25850245 PMID:17315188 RGD:11040778, RGD:11040938 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelomatosis		 CTD
ClinVar		 PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FGG fibrinogen gamma chain treatment IDA RGD PMID:22348216 RGD:11040544 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:28,003,274...28,100,576
Ensembl chr13:28,003,274...28,100,592 		JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand disease_progression IEP protein:increased expression:serum: RGD PMID:26521986 RGD:11075232 NCBI chr19:49,474,215...49,486,231
Ensembl chr19:49,474,207...49,486,231 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IEP mRNA:increased expression:bone marrow RGD PMID:34274946 RGD:329901767 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G GPX1 glutathione peroxidase 1 IDA RGD PMID:8599825 RGD:11352777 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G GPX3 glutathione peroxidase 3 disease_progression IDA DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 severity
no_association		 IAGP
ISO		 RGD PMID:17653713 PMID:15136237 RGD:10450826, RGD:10450846 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 disease_progression
treatment
no_association		 IEP
IAGP		 DNA:polymorphism: :
DNA:polymorphism:cds:p.I105V(human)		 RGD PMID:23953887 PMID:17512053 PMID:18061666 RGD:10755413, RGD:11075094, RGD:10755419 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility
no_association		 IAGP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16949155 PMID:15136237 PMID:12624497 RGD:10450846, RGD:10450847
G H1-4 H1.4 linker histone, cluster member IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115 		JBrowse link
G H19 H19 imprinted maternally expressed transcript severity IEP RNA:decrased expression:blood serum (human) RGD PMID:29470951 RGD:156430335 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G H2AC16 H2A clustered histone 16 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:27,865,317...27,865,798
Ensembl chr 6:27,865,317...27,865,798 		JBrowse link
G H2AC17 H2A clustered histone 17 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:27,892,699...27,893,185
Ensembl chr 6:27,892,699...27,893,185 		JBrowse link
G H3C1 H3 clustered histone 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:26,020,451...26,020,958
Ensembl chr 6:26,020,451...26,020,958 		JBrowse link
G HCP5 HLA complex P5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34331612 NCBI chr 6:31,463,180...31,465,809
Ensembl chr 6:31,463,170...31,478,936 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HFE homeostatic iron regulator susceptibility IAGP DNA:missense mutation, haplotype:cds:p.C282Y (human) RGD PMID:10383894 RGD:8694350 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G HK1 hexokinase 1 IMP RGD PMID:19996089 RGD:11353882 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HLA-A major histocompatibility complex, class I, A EXP CTD Direct Evidence: marker/mechanism CTD PMID:17283154 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12855565 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment IMP
IEP		 protein:increased expression:serum: RGD PMID:7834632 PMID:7686390 RGD:11354981, RGD:11520780 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More... NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: therapeutic CTD PMID:3597002 PMID:8833401 PMID:9234591 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398 		JBrowse link
G IGF2R insulin like growth factor 2 receptor IEP protein:increased expression:serum,urine: RGD PMID:29940770 RGD:14985218 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507 		JBrowse link
G IL10 interleukin 10 disease_progression IAGP
IEP		 DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
protein:increased expression:serum		 RGD PMID:11307152 PMID:11022130 RGD:11041888, RGD:11049458 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL1A interleukin 1 alpha IAGP
ISO		 DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)		 RGD PMID:25469832 PMID:1777241 PMID:17926179 RGD:11049156, RGD:11059513, RGD:11051973 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta IAGP DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) RGD PMID:17926179 RGD:11051973 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RN interleukin 1 receptor antagonist no_association IAGP DNA:snp: :11100C>T (human)
DNA:repeats:intron:		 RGD PMID:17926179 PMID:10848780 RGD:11051973, RGD:11522764 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL4R interleukin 4 receptor susceptibility IAGP DNA:SNP: :-228120T>C(rs2107356)(human) RGD PMID:17315188 RGD:11040938 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8520508 PMID:12855565 PMID:19330649 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL7R interleukin 7 receptor IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G IRF4 interferon regulatory factor 4 treatment
disease_progression		 IAGP
EXP
IEP		 DNA:translocation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18568025 PMID:10557056 PMID:21707574 PMID:17690696 RGD:11526161, RGD:11530055, RGD:11530019 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443 		JBrowse link
G IRF8 interferon regulatory factor 8 IDA DNA:hypermethylation RGD PMID:23114132 RGD:329902071 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G KDM5C lysine demethylase 5C IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More... NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Myelomatosis ClinVar
RGD		 PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... RGD:1581756 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LATS1 large tumor suppressor kinase 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105 		JBrowse link
G LIG4 DNA ligase 4 IAGP
EXP		 DNA:polymorphisms
ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma, resistance to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More... RGD:1600305 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LOC130063979 ATAC-STARR-seq lymphoblastoid silent region 10375 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:18,161,088...18,161,587 JBrowse link
G LOC130068308 ATAC-STARR-seq lymphoblastoid active region 29656 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:53,224,749...53,224,848 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member EXP CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr 1:150,574,558...150,579,610
Ensembl chr 1:150,560,895...150,579,738 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin susceptibility IAGP DNA:polymorphisms:cds:p.E148Q,M694V(human) RGD PMID:25202401 RGD:11531123 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IDA RGD PMID:11830493 RGD:2317526 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G METTL14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 4:118,685,392...118,715,430
Ensembl chr 4:118,685,392...118,715,433 		JBrowse link
G METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr14:21,498,138...21,511,340
Ensembl chr14:21,498,133...21,511,342 		JBrowse link
G MGA MAX dimerization protein MGA IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:41,621,224...41,769,940
Ensembl chr15:41,621,134...41,773,081 		JBrowse link
G MIR155 microRNA 155 disease_progression IEP miRNA:decreased expression:serum RGD PMID:25497370 PMID:28446295 RGD:21079441, RGD:24922226 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MIR17 microRNA 17 disease_progression IEP miRNA:increased expression:plasma cell RGD PMID:23718138 RGD:329337383 NCBI chr13:91,350,605...91,350,688
Ensembl chr13:91,350,605...91,350,688 		JBrowse link
G MIR19A microRNA 19a EXP CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr13:91,350,891...91,350,972
Ensembl chr13:91,350,891...91,350,972 		JBrowse link
G MIR27A microRNA 27a EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr19:13,836,440...13,836,517
Ensembl chr19:13,836,440...13,836,517 		JBrowse link
G MIR320A microRNA 320a ameliorates IMP human gene in mouse model RGD PMID:27086852 RGD:155882577 NCBI chr 8:22,244,966...22,245,037
Ensembl chr 8:22,244,962...22,245,043 		JBrowse link
G MIR92A1 microRNA 92a-1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr13:91,351,314...91,351,391
Ensembl chr13:91,351,314...91,351,391 		JBrowse link
G MST1R macrophage stimulating 1 receptor IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:49,887,002...49,903,873
Ensembl chr 3:49,887,002...49,903,873 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP DNA:missense mutations:cds:677C>T, 1298A>C (human) RGD PMID:24839819 RGD:10449397 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility IAGP DNA:polymorphism: :2756A>G(human) RGD PMID:17655928 RGD:11075095 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility IAGP DNA:polymorphism: :66G>A(human) RGD PMID:17655928 RGD:11075095 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G MUC1 mucin 1, cell surface associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:9949172 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G NCOR2 nuclear receptor corepressor 2 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:124,324,415...124,567,612
Ensembl chr12:124,324,415...124,567,612 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP DNA:polymorphism RGD PMID:16540234 PMID:12377412 RGD:2298898, RGD:2298895 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NONO non-POU domain containing octamer binding exacerbates IEP mRNA:increased expression: (human) RGD PMID:32410217 RGD:155900765 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NOTCH2 notch receptor 2 IEP protein:increased expression:bone marrow (human) RGD PMID:14726396 RGD:1580763 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NOX1 NADPH oxidase 1 IEP protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr  X:100,843,324...100,874,359
Ensembl chr  X:100,843,324...100,874,359 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 no_association IAGP
EXP		 DNA:missense mutation:cds:p.P187S (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P187S (609C>T) (human)		 CTD
RGD		 PMID:16949155 PMID:18156703 PMID:18061666 RGD:10769348, RGD:10755419 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase treatment IAGP DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis		 ClinVar
RGD		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... RGD:11535049 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NUAK1 NUAK family kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26873845 NCBI chr12:106,063,345...106,138,954
Ensembl chr12:106,063,345...106,138,954 		JBrowse link
G P2RY8 P2Y receptor family member 8 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:1,462,581...1,537,185
NCBI chr  Y:1,462,581...1,537,185
Ensembl chr  Y:1,462,581...1,537,185
Ensembl chr  X:1,462,581...1,537,185 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21917757 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G PF4 platelet factor 4 ameliorates IDA RGD PMID:21693026 RGD:329901828 NCBI chr 4:73,980,811...73,982,124
Ensembl chr 4:73,980,811...73,982,027 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532 		JBrowse link
G PML PML nuclear body scaffold severity IEP protein:increased expression:bone marrow (human) RGD PMID:22906876 RGD:41404686 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827 		JBrowse link
G POLR1G RNA polymerase I subunit G sexual_dimorphism IAGP DNA:SNP:exon 1: p.G-21A (rs967591) (human) RGD PMID:17131345 RGD:401827277 NCBI chr19:45,406,644...45,410,737
Ensembl chr19:45,406,644...45,410,737 		JBrowse link
G PON1 paraoxonase 1 severity
susceptibility
treatment		 IEP
IAGP
IDA		 protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)		 RGD PMID:25520116 PMID:15136237 PMID:22348216 RGD:11552578, RGD:10450846, RGD:11040544 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity IEP
EXP		 associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16179254 PMID:24791872 RGD:11535030 NCBI chr22:22,547,701...22,559,265
Ensembl chr22:22,547,701...22,559,361 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29158558 NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408 		JBrowse link
G PSORS1C2 psoriasis susceptibility 1 candidate 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr 6:31,137,534...31,139,066
Ensembl chr 6:31,137,534...31,139,066 		JBrowse link
G PTHLH parathyroid hormone like hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RANBP2 RAN binding protein 2 IEP mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:19171422 RGD:9835349 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease exacerbates HEP mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:30622325 RGD:401940173 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RBP1 retinol binding protein 1 disease_progression IDA DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr 3:139,517,438...139,539,742
Ensembl chr 3:139,517,434...139,539,829 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:28492532 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ameliorates IMP RGD PMID:34268498 RGD:243048419 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IDA mRNA:splice variant RGD PMID:12560229 RGD:6482834 NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G RXRA retinoid X receptor alpha IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SFTA3 surfactant associated 3 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,288...36,513,829
Ensembl chr14:36,473,288...36,513,829 		JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:134,169,256...134,318,112
Ensembl chr 6:134,169,248...134,318,112 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G SOD2 superoxide dismutase 2 IDA
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15908783 PMID:15908783 RGD:1581238 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SPARC secreted protein acidic and cysteine rich disease_progression EXP
IDA		 CTD Direct Evidence: marker/mechanism
DNA:hypermethylation: :		 CTD
RGD		 PMID:18172295 PMID:23699600 RGD:11073605 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975 		JBrowse link
G SPP1 secreted phosphoprotein 1 IDA RGD PMID:16208410 RGD:1581367 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G TCF3 transcription factor 3 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615 		JBrowse link
G TERT telomerase reverse transcriptase IEP RGD PMID:11237381 RGD:11038665 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TET2-AS1 TET2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:105,171,354...105,352,881
Ensembl chr 4:105,171,354...105,178,063 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,176 		JBrowse link
G TFRC transferrin receptor treatment IDA RGD PMID:21654517 RGD:11062101 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153 		JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression IDA
IEP		 DNA:hypermethylation: :
protein:decreased expression:serum:		 RGD PMID:23699600 PMID:22560388 RGD:11073605, RGD:11073614 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TNF tumor necrosis factor treatment
no_association		 IAGP DNA:SNP:promoter:-238G>A (human)
DNA:SNP:promoter:-308G>A (human)		 RGD PMID:12200397 PMID:12815949 RGD:10449450, RGD:10449453 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a treatment IDA RGD PMID:16531263 RGD:11038719 NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TNFRSF17 TNF receptor superfamily member 17 IDA RGD PMID:15692072 RGD:2317306 NCBI chr16:11,965,210...11,968,068
Ensembl chr16:11,965,210...11,968,068 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
G TP53 tumor protein p53 disease_progression
treatment		 IAGP
IEP		 DNA:polymorphism:cds:p.R72P(human)
ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma
DNA:deletion: :
protein:increased expression:nucleus:		 ClinVar
RGD		 PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More... RGD:11073716, RGD:11075073, RGD:11073728 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
G TYMS thymidylate synthetase treatment
no_association		 IAGP DNA:polymorphism: :
DNA:repeats:5'UTR:		 RGD PMID:17512053 PMID:17655928 RGD:11075094, RGD:11075095 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G ULK4 unc-51 like kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22120009 NCBI chr 3:41,246,599...41,962,103
Ensembl chr 3:41,246,599...41,962,130 		JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility IAGP DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) RGD PMID:24687381 RGD:11079182 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G XDH xanthine dehydrogenase IEP protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
G XPO5 exportin 5 severity IAGP DNA:snp:3' utr:c.*659A>C (rs11077) (human) RGD PMID:22539802 RGD:11041735 NCBI chr 6:43,522,334...43,576,038
Ensembl chr 6:43,522,334...43,576,038 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 disease_progression IAGP DNA:SNP,haplotype:: p.T241M (rs861535) (Human) RGD PMID:17131345 RGD:401827277 NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 susceptibility IAGP DNA:SNPs:multiple (human) RGD PMID:17901044 RGD:8698655 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G XRCC5 X-ray repair cross complementing 5 susceptibility IAGP DNA:SNP:3'-UTR (human) RGD PMID:17901044 RGD:8698655 NCBI chr 2:216,109,348...216,206,293
Ensembl chr 2:216,107,464...216,206,303 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424 		JBrowse link
G YTHDF1 YTH N6-methyladenosine RNA binding protein F1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr20:63,195,429...63,216,131
Ensembl chr20:63,195,429...63,216,139 		JBrowse link
G YY1 YY1 transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
plasma cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40 CD40 molecule IMP RGD PMID:20616215 RGD:5490532 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G TERT telomerase reverse transcriptase IEP RGD PMID:11237381 RGD:11038665 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
Schnitzler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha IDA RGD PMID:1831824 RGD:7794711 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility IDA
EXP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:16096327 PMID:16096327 RGD:11522758 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      immune system disease 5892
        Immunoproliferative Disorders 1354
          Paraproteinemias 191
            POEMS syndrome 0
            cryoglobulinemia + 10
            heavy chain disease + 0
            lymphoplasmacytic lymphoma 7
            monoclonal gammopathy of uncertain significance + 5
            multiple myeloma + 181
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Hemic and Lymphatic Diseases 5702
        hematopoietic system disease 4988
          blood protein disease 996
            Paraproteinemias 191
              POEMS syndrome 0
              cryoglobulinemia + 10
              heavy chain disease + 0
              lymphoplasmacytic lymphoma 7
              monoclonal gammopathy of uncertain significance + 5
              multiple myeloma + 181
paths to the root