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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 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:26619011 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More... NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LIG4 DNA ligase 4 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 More... NCBI chr11:75,537,027...75,547,711
Ensembl chr11:75,537,036...75,547,716 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G CD86 CD86 molecule ISO associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) RGD PMID:23840845 RGD:11354974 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO associated with hepatitis C; protein:increased expression:serum RGD PMID:18775023 RGD:27095893 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948 		JBrowse link
G IL28B interleukin 28B (interferon, lambda 3) severity ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:24293567 RGD:11528546 NCBI chr 6:47,951,925...47,953,282
Ensembl chr 6:47,951,595...47,953,467 		JBrowse link
G LOC102161030 interferon lambda-4 severity ISO associated with Hepatitis C, Chronic;DNA:SNP:intron: (rs12979860) (human) RGD PMID:24293567 RGD:11528546 NCBI chr 6:47,946,679...47,948,710 JBrowse link
G TCN2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,502,715...47,515,965 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TSLP thymic stromal lymphopoietin ISO MouseDO NCBI chr 2:115,832,152...115,837,572 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 ISO associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) RGD PMID:26219420 RGD:30296664 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G TSLP thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chr 2:115,832,152...115,837,572 JBrowse link
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR3A Fc fragment of IgG receptor IIIa treatment ISO DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chr 4:88,948,357...88,956,513 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 ISO DNA:mutation:cds:1013C>G(p.S338X)(human) RGD PMID:24711662 RGD:11352304 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232 		JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa disease_progression
treatment		 ISO DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)		 RGD PMID:15659493 PMID:21564078 RGD:11040774 RGD:11352262 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G GPX3 glutathione peroxidase 3 ISO protein:increased expression:bone marrow RGD PMID:32763516 RGD:401827827 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G IL10 interleukin 10 ISO DNA:SNPs: :multiple RGD PMID:19573080 RGD:11049165 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL6 interleukin 6 no_association ISO DNA:SNPs: :multiple
DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)		 RGD PMID:19573080 RGD:11049165 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:23355206 RGD:11530052 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic OMIM
ClinVar		 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109 		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 ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO MouseDO NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109 		JBrowse link
G NEFH neurofilament heavy chain ISO associated with Peripheral Nervous System Diseases RGD PMID:12536221 RGD:9693726 NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088 		JBrowse link
multiple myeloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2A ATP binding cassette subfamily G member 2A treatment ISO RGD PMID:16917002 PMID:26314844 RGD:11081075 RGD:11081144 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393 		JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO protein:increased activity:serum RGD PMID:22345095 RGD:11038914 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ALB albumin disease_progression ISO RGD PMID:17096887 RGD:11035276 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G ALKBH5 alkB homolog 5, RNA demethylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr12:60,507,662...60,530,239
Ensembl chr12:60,507,667...60,529,733 		JBrowse link
G APOE apolipoprotein E treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G ARID4A AT-rich interaction domain 4A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:187,385,324...187,452,558
Ensembl chr 1:187,385,332...187,452,540 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552 		JBrowse link
G AURKA aurora kinase A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:56,954,838...56,972,435 JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:26619011 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582 		JBrowse link
G BAP1 BRCA1 associated protein 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:117,049,483...117,135,889
Ensembl chr15:117,047,845...117,175,851 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G BCL2L1 BCL2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12429644 PMID:14656874 RGD:11353847 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694 		JBrowse link
G BCL2L10 BCL2 like 10 ISO protein:increased expression:bone marrow : RGD PMID:27455953 RGD:14392808 NCBI chr 1:119,594,004...119,607,709 JBrowse link
G BCORL1 BCL6 corepressor like 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:106,547,754...106,613,130
Ensembl chr  X:106,549,139...106,612,894 		JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chr14:140,362,123...140,371,951
Ensembl chr14:140,362,127...140,371,907 		JBrowse link
G 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 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G BTG1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr 5:90,815,194...90,817,936
Ensembl chr 5:90,815,202...90,817,142 		JBrowse link
G CBL Cbl proto-oncogene ISO mRNA:decreased expression:mononuclear cell: RGD PMID:23948411 RGD:11038794 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G CBX7 chromobox 7 susceptibility ISO DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:23955597 RGD:11352716 NCBI chr 5:9,070,312...9,090,467
Ensembl chr 5:9,070,353...9,087,634 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCN1 cellular communication network factor 1 exacerbates ISO mRNA,protein:increased expression:bone marrow (human)
mRNA, protein:increased expression:bone marrow (human)		 RGD PMID:25061178 PMID:28035364 RGD:329845528 RGD:329845546 NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150 		JBrowse link
G CCND1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CCND2 cyclin D2 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CCND3 cyclin D3 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 7:37,087,336...37,182,462
Ensembl chr 7:37,082,097...37,181,366 		JBrowse link
G CD40 CD40 molecule treatment ISO human cells in a mouse model RGD PMID:10866315 RGD:11522720 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G 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:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CD46 CD46 molecule, complement regulatory protein ISO protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CD86 CD86 molecule severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:bone marrow, plasma cell (human)		 CTD
RGD		 PMID:16611307 PMID:22705596 RGD:11354971 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310 		JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:hypermethylation::		 CTD
RGD		 PMID:12681979 PMID:16008847 RGD:11252185 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:161,160,290...161,166,681
Ensembl chr 6:161,160,297...161,166,529 		JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16930142 RGD:4892645 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131 		JBrowse link
G CRBN cereblon ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:59,733,503...59,757,776
Ensembl chr13:59,730,639...59,757,860 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224 		JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7540856 PMID:8104070 PMID:8555506 NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7534716 PMID:7540856 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:34,058,091...34,121,939
Ensembl chr 6:34,059,081...34,121,264 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility ISO DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) RGD PMID:18285692 RGD:11352726 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G CYP2C49 cytochrome P450 2C49 treatment
no_association		 ISO DNA:polymorphisms: : RGD PMID:17666363 PMID:20684753 RGD:11352748 RGD:11352804 NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455 		JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 no_association ISO DNA:polymorphisms: : RGD PMID:20684753 RGD:11352804 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642 		JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,963 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087 		JBrowse link
G DSG2 desmoglein 2 disease_progression ISO RGD PMID:34245117 RGD:401851080 NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:16,429,625...16,449,581
Ensembl chr  X:16,429,628...16,449,556 		JBrowse link
G ENG endoglin severity ISO protein:increased expression:serum: RGD PMID:23576184 RGD:11041181 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
no_association		 ISO DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:rs2234922 (human)		 RGD
CTD		 PMID:16949155 PMID:19736056 PMID:24521996 RGD:11252116 RGD:11252121 RGD:11252122 NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO DNA:SNP: :rs735482 (human) RGD PMID:21435719 RGD:10450871 NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		JBrowse link
G 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:17131345 PMID:22183071 RGD:11252199 RGD:401827277 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G ERF ETS2 repressor factor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:49,678,858...49,686,422
Ensembl chr 6:49,678,888...49,685,538 		JBrowse link
G FASLG Fas ligand disease_progression ISO RGD PMID:16321857 RGD:11049149 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		JBrowse link
G FGG fibrinogen gamma chain treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 8:74,553,040...74,562,151
Ensembl chr 8:74,553,105...74,563,688 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA:increased expression:bone marrow RGD PMID:34274946 RGD:329901767 NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:8599825 RGD:11352777 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433 		JBrowse link
G GPX3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301 		JBrowse link
G HFE homeostatic iron regulator susceptibility ISO DNA:missense mutation, haplotype:cds:p.C282Y (human) RGD PMID:10383894 RGD:8694350 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000 		JBrowse link
G HK1 hexokinase 1 ISO RGD PMID:19996089 RGD:11353882 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924 		JBrowse link
G 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 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12855565 NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:serum: RGD PMID:7686390 PMID:7834632 RGD:11354981 RGD:11520780 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More... NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO protein:increased expression:serum,urine: RGD PMID:29940770 RGD:14985218 NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548 		JBrowse link
G IL10 interleukin 10 disease_progression ISO DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
protein:increased expression:serum		 RGD PMID:11022130 PMID:11307152 RGD:11041888 RGD:11049458 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL1A interleukin 1 alpha ISO DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)		 RGD PMID:1777241 PMID:17926179 PMID:25469832 RGD:11049156 RGD:11051973 RGD:11059513 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL1RN interleukin 1 receptor antagonist no_association ISO DNA:snp: :11100C>T (human)
DNA:repeats:intron:		 RGD PMID:10848780 PMID:17926179 RGD:11051973 RGD:11522764
G IL4R interleukin 4 receptor susceptibility ISO DNA:SNP: :-228120T>C(rs2107356)(human) RGD PMID:17315188 RGD:11040938 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8520508 PMID:12855565 PMID:19330649 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IL7R interleukin 7 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585 		JBrowse link
G IRF4 interferon regulatory factor 4 treatment
disease_progression		 ISO DNA:translocation
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10557056 PMID:17690696 PMID:18568025 PMID:21707574 RGD:11526161 RGD:11530019 RGD:11530055 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609 		JBrowse link
G IRF8 interferon regulatory factor 8 ISO DNA:hypermethylation RGD PMID:23114132 RGD:329902071 NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406 		JBrowse link
G KDM5C lysine demethylase 5C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:45,968,812...46,003,215
Ensembl chr  X:45,968,814...46,003,215 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More... NCBI chr 5:15,049,827...15,091,622 JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,604 		JBrowse link
G LIG4 DNA ligase 4 ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis OMIM
ClinVar		 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More... NCBI chr11:75,537,027...75,547,711
Ensembl chr11:75,537,036...75,547,716 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:19171422 RGD:9835349 NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G LOC100737977 tumor necrosis factor receptor superfamily member 10B-like treatment ISO RGD PMID:16531263 RGD:11038719 NCBI chr14:7,344,788...7,371,086 JBrowse link
G LOC100739508 glutathione S-transferase P-like disease_progression
treatment
no_association		 ISO DNA:polymorphism: :
DNA:polymorphism:cds:p.I105V(human)		 RGD PMID:17512053 PMID:18061666 PMID:23953887 RGD:10755413 RGD:10755419 RGD:11075094 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) RGD PMID:17926179 RGD:11051973
G 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 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G MAF MAF bZIP transcription factor ISO OMIM:254500 MouseDO NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,413...8,485,030 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr 4:98,562,092...98,567,014
Ensembl chr 4:98,534,812...98,567,006 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M694V(human) RGD PMID:25202401 RGD:11531123 NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO RGD PMID:11830493 RGD:2317526 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G METTL14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 8:105,019,539...105,053,603
Ensembl chr 8:105,015,420...105,053,563 		JBrowse link
G METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 7:77,661,945...77,679,459
Ensembl chr 7:77,662,058...77,695,934 		JBrowse link
G MGA MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:129,590,645...129,697,434
Ensembl chr 1:129,594,795...129,697,408 		JBrowse link
G MIR155 microRNA mir-155 disease_progression ISO miRNA:decreased expression:serum RGD PMID:25497370 PMID:28446295 RGD:21079441 RGD:24922226 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902 		JBrowse link
G MIR17 microRNA mir-17 disease_progression ISO miRNA:increased expression:plasma cell RGD PMID:23718138 RGD:329337383 NCBI chr11:60,734,656...60,734,732
Ensembl chr11:60,734,656...60,734,732 		JBrowse link
G MIR19A microRNA mir-19a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr11:60,734,939...60,735,020
Ensembl chr11:60,734,939...60,735,020 		JBrowse link
G MIR27A microRNA mir-27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 2:65,308,294...65,308,375
Ensembl chr 2:65,308,294...65,308,375 		JBrowse link
G MIR92B microRNA mir-92b ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr 4:94,624,285...94,624,364
Ensembl chr 4:94,624,285...94,624,364 		JBrowse link
G MST1R macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:32,401,623...32,423,614
Ensembl chr13:32,409,555...32,421,920 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO DNA:missense mutations:cds:677C>T, 1298A>C (human) RGD PMID:24839819 RGD:10449397 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:polymorphism: :2756A>G(human) RGD PMID:17655928 RGD:11075095 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66G>A(human) RGD PMID:17655928 RGD:11075095 NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,228...74,270,783 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:9949172 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G 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 More... NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109 		JBrowse link
G NCOR2 nuclear receptor corepressor 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:28,642,774...28,819,404
Ensembl chr14:28,624,702...28,819,404 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO DNA:polymorphism RGD PMID:12377412 PMID:16540234 RGD:2298895 RGD:2298898 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575 		JBrowse link
G NOTCH2 notch receptor 2 ISO protein:increased expression:bone marrow (human) RGD PMID:14726396 RGD:1580763 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		JBrowse link
G NOX1 NADPH oxidase 1 ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr  X:82,540,664...82,575,811
Ensembl chr  X:82,540,667...82,586,532 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 no_association ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P187S (609C>T) (human)
DNA:missense mutation:cds:p.P187S (human)		 CTD
RGD		 PMID:16949155 PMID:18061666 PMID:18156703 RGD:10755419 RGD:10769348 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase treatment ISO DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis		 RGD
ClinVar		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... RGD:11535049 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G NUAK1 NUAK family kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873845 NCBI chr 5:14,089,584...14,177,584
Ensembl chr 5:14,102,006...14,177,584 		JBrowse link
G P2RY8 P2Y receptor family member 8 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21917757 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196 		JBrowse link
G 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 More... NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:59,637,363...59,652,075
Ensembl chr 2:59,637,371...59,652,073 		JBrowse link
G PML PML nuclear body scaffold severity ISO protein:increased expression:bone marrow (human) RGD PMID:22906876 RGD:41404686 NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105 		JBrowse link
G 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 6:51,780,709...51,783,696
Ensembl chr 6:51,781,347...51,785,104 		JBrowse link
G PON1 paraoxonase 1 treatment
susceptibility
severity		 ISO DNA:missense mutation:cds:p.Q192R (human)
protein:decreased activity:serum (human)		 RGD PMID:15136237 PMID:22348216 PMID:25520116 RGD:10450846 RGD:11040544 RGD:11552578 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity ISO associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16179254 PMID:24791872 RGD:11535030 NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29158558 NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989 		JBrowse link
G PSORS1C2 psoriasis susceptibility 1 candidate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr 7:23,540,341...23,543,136
Ensembl chr 7:23,540,374...23,542,112 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415 		JBrowse link
G 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 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease exacerbates ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:30622325 RGD:401940173 NCBI chr 6:107,923,921...108,020,067
Ensembl chr 6:107,924,002...108,022,669 		JBrowse link
G RBP1 retinol binding protein 1 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr13:80,380,958...80,407,328
Ensembl chr13:80,380,962...80,407,458 		JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:28492532 NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481 		JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878 		JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:29,625,786...29,753,619
Ensembl chr 1:29,745,114...29,753,602 		JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15908783 RGD:1581238 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G 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 chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:16208410 RGD:1581367 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340 		JBrowse link
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351 		JBrowse link
G TERT telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:68,918,896...69,020,406
Ensembl chr 3:68,918,933...69,020,986 		JBrowse link
G TFRC transferrin receptor treatment ISO RGD PMID:21654517 RGD:11062101 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276 		JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression ISO DNA:hypermethylation: :
protein:decreased expression:serum:		 RGD PMID:22560388 PMID:23699600 RGD:11073605 RGD:11073614 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TNF tumor necrosis factor no_association
treatment		 ISO DNA:SNP:promoter:-308G>A (human)
DNA:SNP:promoter:-238G>A (human)		 RGD PMID:12200397 PMID:12815949 RGD:10449450 RGD:10449453 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr12:61,245,976...61,270,154
Ensembl chr12:61,246,062...61,270,146 		JBrowse link
G TNFRSF17 TNF receptor superfamily member 17 ISO RGD PMID:15692072 RGD:2317306 NCBI chr 3:31,137,672...31,141,862
Ensembl chr 3:31,137,682...31,141,735 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		JBrowse link
G TP53 tumor protein p53 disease_progression
treatment		 ISO protein:increased expression:nucleus:
DNA:deletion: :
DNA:polymorphism:cds:p.R72P(human)
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 RGD
ClinVar		 PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More... RGD:11073716 RGD:11073728 RGD:11075073 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:59,647,835...59,736,054
Ensembl chr13:59,710,995...59,735,400 		JBrowse link
G TYMS thymidylate synthetase no_association
treatment		 ISO DNA:repeats:5'UTR:
DNA:polymorphism: :		 RGD PMID:17512053 PMID:17655928 RGD:11075094 RGD:11075095 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578 		JBrowse link
G ULK4 unc-51 like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120009 NCBI chr13:25,207,890...25,751,465
Ensembl chr13:25,209,368...25,751,500 		JBrowse link
G VCAN versican susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:17901044 RGD:8698655 NCBI chr 2:91,358,348...91,643,697
Ensembl chr 2:91,384,391...91,811,208 		JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility ISO DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) RGD PMID:24687381 RGD:11079182 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G XDH xanthine dehydrogenase ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
G XPO5 exportin 5 severity ISO DNA:snp:3' utr:c.*659A>C (rs11077) (human) RGD PMID:22539802 RGD:11041735 NCBI chr 7:38,530,704...38,569,558
Ensembl chr 7:38,531,919...38,569,582 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 disease_progression ISO DNA:SNP,haplotype:: p.T241M (rs861535) (Human) RGD PMID:17131345 RGD:401827277
G XRCC5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNP:3'-UTR (human) RGD PMID:17901044 RGD:8698655 NCBI chr15:118,354,943...118,451,974
Ensembl chr15:118,354,796...118,451,960 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603 		JBrowse link
G YTHDF1 YTH N6-methyladenosine RNA binding protein F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr17:62,329,302...62,341,312
Ensembl chr17:62,329,302...62,341,413 		JBrowse link
G YY1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 7:121,132,168...121,170,699
Ensembl chr 7:121,132,191...121,170,697 		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 ISO RGD PMID:20616215 RGD:5490532 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G TERT telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		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 ISO RGD PMID:1831824 RGD:7794711 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:16096327 RGD:11522758
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14909
      immune system disease 4298
        Immunoproliferative Disorders 994
          Paraproteinemias 170
            POEMS syndrome 0
            cryoglobulinemia + 10
            heavy chain disease + 0
            lymphoplasmacytic lymphoma 7
            monoclonal gammopathy of uncertain significance + 5
            multiple myeloma + 160
Path 2
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14909
      Hemic and Lymphatic Diseases 3612
        hematopoietic system disease 3135
          blood protein disease 565
            Paraproteinemias 170
              POEMS syndrome 0
              cryoglobulinemia + 10
              heavy chain disease + 0
              lymphoplasmacytic lymphoma 7
              monoclonal gammopathy of uncertain significance + 5
              multiple myeloma + 160
paths to the root