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myeloid neoplasm - Ontology Report - Rat Genome Database

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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:myeloid neoplasm
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Accession:DOID:0070004 term browser browse the term
Definition:A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. (DO)
Synonyms:exact_synonym: myeloid malignancy;   myeloid tumor;   myeloproliferative disorder;   myeloproliferative disorders
 primary_id: MESH:D009196
 xref: EFO:0002427;   MONDO:0005170;   NCI:C9290

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show annotations for term's descendants           Sort by:
myeloid neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c3 aldo-keto reductase family 1, member C3 ISO RGD PMID:1665987 RGD:11552589 NCBI chr17:71,020,884...71,037,779
Ensembl chr17:66,110,963...66,127,873 		JBrowse link
G Atg2b autophagy related 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26280900 NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22875613 NCBI chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G Calr calreticulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Cbl Cbl proto-oncogene disease_progression ISO ClinVar Annotator: match by term: Myeloproliferative disorder
DNA:mutations:exons:
DNA:mutations:cds:		 ClinVar
RGD		 PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More... RGD:11038798, RGD:11038808, RGD:11038804 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, plasma membrane RGD PMID:12479587 RGD:11040908 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Myeloproliferative disorder ClinVar PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 More... NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:17420284 RGD:5131859 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO DNA:translocation: : RGD PMID:9044825 RGD:10450608 NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO RGD PMID:22233633 RGD:10450869 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:16959024 RGD:11340218 NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21936542 PMID:22875613 PMID:15448205 PMID:12969958 RGD:11352309, RGD:11352667 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fgfr1op2 FGFR1 oncogene partner 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22875613 NCBI chr 4:181,222,298...181,243,318
Ensembl chr 4:179,491,599...179,512,630 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO RGD PMID:17936561 RGD:11049465 NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO RGD PMID:22932805 RGD:11040453 NCBI chr14:2,185,489...2,204,191
Ensembl chr14:2,042,434...2,051,814 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:27077777 RGD:11352761 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gskip GSK3B interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26280900 NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21937694 RGD:11354915 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35568132 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Myeloproliferative disorder ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:20585039 RGD:11530030 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Jak2 Janus kinase 2 severity
no_association		 ISO DNA:SNPs:introns: (rs12343867, rs10974944) (human)
ClinVar Annotator: match by term: Myeloproliferative disorder
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.V617F (human)
DNA:SNP:intron: (rs12342421) (human)		 ClinVar
CTD
RGD		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... RGD:10449376, RGD:10449393, RGD:10449376 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:missense mutation: :p.G12D (mouse) RGD PMID:21451123 RGD:11060138 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO DNA:translocation: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:29047144 PMID:9044825 RGD:10450608 NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:112,909,321...113,464,590 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C (human) RGD PMID:23107469 RGD:10449419 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Npm1 nucleophosmin 1 ISO DNA:insertion mutation:cds:c.854_857dupTCTG(mouse) RGD PMID:23226219 RGD:11534989 NCBI chr10:18,245,739...18,255,913
Ensembl chr10:17,739,941...17,751,645
Ensembl chr  X:17,739,941...17,751,645 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO RGD PMID:18829548 RGD:10769354 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 ISO RGD PMID:12351651 RGD:1331842 NCBI chr17:31,114,825...31,144,062
Ensembl chr17:30,909,187...30,938,320 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO RGD PMID:15784726 RGD:11251691 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29370077 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Zmym2 zinc finger MYM-type containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22875613 NCBI chr15:31,035,835...31,108,945
Ensembl chr15:31,035,838...31,109,357 		JBrowse link
Acute Erythroleukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx41 DEAD-box helicase 41 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr17:9,108,030...9,113,562
Ensembl chr17:9,103,010...9,108,415 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
G Hoxb9 homeo box B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr10:81,733,857...81,737,363
Ensembl chr10:81,237,312...81,240,818 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Npm1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr10:18,245,739...18,255,913
Ensembl chr10:17,739,941...17,751,645
Ensembl chr  X:17,739,941...17,751,645 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
atypical chronic myeloid leukemia, BCR-ABL1 negative term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:15050920 RGD:11352668 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Mfsd11 major facilitator superfamily domain containing 11 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222956 NCBI chr18:74,465,616...74,827,455
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr10:102,550,962...102,554,200
Ensembl chr10:102,052,314...102,055,338 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia | ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar PMID:22905207 PMID:28492532 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
Blast Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21570118 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21570118 NCBI chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:12740446 RGD:734951 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Mir150 microRNA 150 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 1:104,741,487...104,741,571
Ensembl chr 1:95,605,024...95,605,108 		JBrowse link
G Tcn2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489 		JBrowse link
chronic myelogenous leukemia, BCR-ABL1 positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:10988075 PMID:11423618 PMID:12130516 PMID:25686603 PMID:25741868 More... NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:25741868 PMID:28492532 NCBI chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:8439212 PMID:15696205 PMID:17332249 PMID:17704260 PMID:19047918 More... NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:25741868 NCBI chr 9:63,986,829...64,026,723
Ensembl chr 9:56,492,403...56,532,300 		JBrowse link
chronic myeloid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A treatment
susceptibility		 ISO DNA:SNPs: :1236T>C,2677G>A(human)
DNA:SNP, haplotype: :3435C>T (human)		 RGD PMID:24581936 PMID:26250462 RGD:11081178, RGD:11081180 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment ISO DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human) RGD PMID:25060527 RGD:11080961 NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 treatment
susceptibility		 ISO DNA:SNP: :421C>A(human)
DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human)
DNA:SNP,haplotype: :C>A421(human)		 RGD PMID:24581936 PMID:24123600 PMID:26250462 RGD:11081178, RGD:11081181, RGD:11081180 NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase susceptibility
treatment		 ISO ClinVar Annotator: match by term: ABL1-related disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib
CTD Direct Evidence: marker/mechanism
DNA:gene fusion
DNA:missense mutations: :multiple		 ClinVar
CTD
OMIM
RGD		 PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 PMID:12663457 More... RGD:1598673, RGD:13674161, RGD:11038814, RGD:14392796, RGD:11038807 NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase TAS RGD PMID:7773298 RGD:1298615 NCBI chr13:71,223,902...71,319,770
Ensembl chr13:68,673,722...68,839,742 		JBrowse link
G Ace angiotensin I converting enzyme ISO RGD PMID:19761684 RGD:11039056 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agt angiotensinogen ISO RGD PMID:19761684 RGD:11039056 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: therapeutic CTD PMID:19503090 PMID:19823023 NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO RGD PMID:20728382 RGD:11353850 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase susceptibility
treatment
disease_progression		 ISO DNA:gene fusion
CTD Direct Evidence: marker/mechanism
BCR/ABL fusion
DNA:methylation: :
DNA:translocations:cds:		 CTD
OMIM
RGD		 PMID:15604220 PMID:18673174 PMID:21908430 PMID:33070465 PMID:3101769 More... RGD:1600510, RGD:41404631, RGD:13674161, RGD:14392796, RGD:11038783, RGD:11038776, RGD:11038775 NCBI chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:16254145 NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380 		JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 1:176,766,222...176,864,741
Ensembl chr 1:167,331,633...167,430,231 		JBrowse link
G Car9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Casp6 caspase 6 treatment ISO human cells in mouse model RGD PMID:31952546 RGD:151667904 NCBI chr 2:221,140,287...221,152,727
Ensembl chr 2:218,466,076...218,478,502 		JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, dendritic cell (human) RGD PMID:16527350 RGD:11520794 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO Protein:increased expression:Blood, common myeloid progenitor, CD34-positive RGD PMID:20200561 RGD:13673878 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO RGD PMID:16533530 RGD:11251777 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 treatment ISO RGD PMID:16533530 RGD:11251777
G Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 treatment ISO RGD PMID:16533530 RGD:11251777
G Chordc1 cysteine and histidine rich domain containing 1 ISS OMIM:608232 MouseDO NCBI chr 8:15,374,356...15,398,436
Ensembl chr 8:15,374,471...15,399,162 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160 NCBI chr11:97,033,033...97,067,457
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Cry1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 7:20,417,526...20,481,791
Ensembl chr 7:18,529,823...18,594,091 		JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 3:98,830,479...98,860,437
Ensembl chr 3:78,374,995...78,404,965 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 treatment ISO DNA:polymorphism:cds:4889A>G(p.I462V)(human) RGD PMID:26464823 RGD:11352729 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 susceptibility
treatment		 ISO DNA:polymorphism:intron :6986A>G (human)
DNA:SNP:: (rs776746) (human)		 RGD PMID:21039054 PMID:19584153 RGD:11353798, RGD:11353810 NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422 		JBrowse link
G Dnmt1 DNA methyltransferase 1 disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G E2f1 E2F transcription factor 1 ISO mRNA:increased expression:blood RGD PMID:26460262 RGD:13674165 NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:polymorphism: :p.K751Q (human)
DNA:polymorphism: :p.K751Q (rs13181) (human)		 RGD PMID:24955348 PMID:25311495 RGD:11252188, RGD:11060463 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO mRNA:increased expression:bone marrow mononuclear cells (human) RGD PMID:27070757 RGD:13782088 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human) RGD PMID:26563376 RGD:11049146 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand susceptibility ISO DNA:polymorphism:promoter: -844 T>C(human) RGD PMID:26563376 RGD:11049146 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8632671 RGD:11344957 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:increased expression:peripheral blood (human) RGD PMID:14562121 RGD:36947884 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Gab2 GRB2-associated binding protein 2 disease_progression ISO protein:increased expression:bone marrow RGD PMID:22858987 RGD:13699433 NCBI chr 1:160,841,066...161,036,940
Ensembl chr 1:151,429,695...151,625,031 		JBrowse link
G Gpx1 glutathione peroxidase 1 no_association ISO DNA:polymorphism: :p.P198L (human) RGD PMID:25436036 RGD:11352762 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20843134 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 IMP rat gene in a mouse model RGD PMID:19861684 RGD:9685380 NCBI chr11:84,210,632...84,213,045
Ensembl chr11:70,705,764...70,708,192 		JBrowse link
G Hmmr hyaluronan-mediated motility receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr10:25,635,249...25,665,389
Ensembl chr10:25,132,977...25,163,060 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23777986 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:20305143 RGD:11049154 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1b interleukin 1 beta severity ISO RGD PMID:7949186 RGD:10450889 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO RGD PMID:7949186 RGD:10450889 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: therapeutic CTD PMID:16818652 NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Mdm2 MDM2 proto-oncogene onset ISO DNA:SNP:promoter:rs2279744(human) RGD PMID:23818300 RGD:13703044 NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Mir150 microRNA 150 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 1:104,741,487...104,741,571
Ensembl chr 1:95,605,024...95,605,108 		JBrowse link
G Mlf1 myeloid leukemia factor 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr 2:151,648,492...151,681,654
Ensembl chr 2:151,648,511...151,681,652 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:17156840 RGD:10449408 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Ncstn nicastrin ISS OMIM:608232 MouseDO NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454 		JBrowse link
G Npm1 nucleophosmin 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr10:18,245,739...18,255,913
Ensembl chr10:17,739,941...17,751,645
Ensembl chr  X:17,739,941...17,751,645 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:SNP: :609C>T (human) RGD PMID:16235982 RGD:10769357 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:serum (human) RGD PMID:16521495 RGD:11552593 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Per1 period circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr10:54,299,002...54,313,804
Ensembl chr10:53,805,535...53,814,431 		JBrowse link
G Per2 period circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 9:99,454,828...99,497,069
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 5:166,740,914...166,778,243
Ensembl chr 5:161,459,533...161,495,607 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO mRNA:increased expression:mononuclear cell (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17157168 PMID:20838376 RGD:11535035 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prtn3 proteinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944 		JBrowse link
G RT1-Ba RT1 class II, locus Ba onset ISO DNA:polymorphism, haplotype RGD PMID:17893434 PMID:17387388 RGD:11041777, RGD:11041781 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:17893434 RGD:11041777 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:25741868 NCBI chr 9:63,986,829...64,026,723
Ensembl chr 9:56,492,403...56,532,300 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISS OMIM:608232 MouseDO NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISS OMIM:608232 MouseDO NCBI chr 1:212,367,867...212,379,952
Ensembl chr 1:202,938,580...202,950,591 		JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:decreased expression:blood RGD PMID:29951173 RGD:13782079 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23228155 RGD:11038774 NCBI chr10:73,335,519...73,342,549
Ensembl chr10:72,839,274...72,845,336 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A disease_progression
treatment		 ISO human cells in mouse model
mRNA:increased expression:PBMC (human)		 RGD PMID:16522816 PMID:31952546 PMID:31952546 RGD:151667903, RGD:151667904, RGD:151667904 NCBI chr10:86,285,859...86,310,187
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17157168 PMID:15068898 RGD:11038663 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:serum RGD PMID:29951173 RGD:13782079 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Usp15 ubiquitin specific peptidase 15 ISO mRNA, protein:decreased expression:PBMC (human) RGD PMID:31952546 RGD:151667904 NCBI chr 7:60,643,611...60,805,137
Ensembl chr 7:58,756,872...58,848,721 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNP,haplotype: :(rs6999470),(rs833061)(human) RGD PMID:19141860 RGD:13432135 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:cds :p.R194W(human) RGD PMID:26250462 RGD:11081180 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
chronic myelomonocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 disease_progression ISO DNA:mutations:exon: RGD PMID:20880116 RGD:11038767 NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO DNA:altered methylation:5'UTR: RGD PMID:12750705 RGD:11252180 NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Csf3r colony stimulating factor 3 receptor disease_progression ISO DNA:mutations:multiples: RGD PMID:23774674 RGD:10450469 NCBI chr 5:143,583,126...143,604,382
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO DNA:mutations:multiple (human) RGD PMID:21339759 RGD:10450882 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Kdm6a lysine demethylase 6A ISS MouseDO NCBI chr  X:6,920,374...7,060,027
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Nras NRAS proto-oncogene, GTPase onset ISO RGD PMID:26082490 RGD:11535058 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO DNA:missense mutations, nonsense mutations, splice-site mutations:multiple RGD PMID:20693430 RGD:11038679 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
chronic neutrophilic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO DNA:mutation:exon:p.T618I(human) RGD PMID:24081659 PMID:23604229 RGD:10450482, RGD:10450483 NCBI chr 5:143,583,126...143,604,382
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
erythroleukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:54,460,636...54,483,049
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
essential thrombocythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg2b autophagy related 2B ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:130,237,055...130,267,205
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G C6h14orf132 similar to human chromosome 14 open reading frame 132 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,365,466...124,398,449 JBrowse link
G Calr calreticulin severity ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:24325356 PMID:24325359 PMID:25741868 PMID:24496303 PMID:25860380 RGD:11352751, RGD:11352747 NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22196954 RGD:11344979 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chr 7:10,467,877...10,469,725
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100 		JBrowse link
G Jak2 Janus kinase 2 severity ISO
ISS		 DNA:mutation: :p.V617F (human)
OMIM:187950 | OMIM:601977 | OMIM:614521
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More... RGD:10449178 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO DNA:missense mutation:cds:pS505N (human)
ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1
mRNA, protein:decreased expression:blood, platelet (human)		 ClinVar
RGD		 PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:15269348 More... RGD:10449014, RGD:10449016 NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISS OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 MouseDO NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr12:20,759,366...20,780,337
Ensembl chr12:15,645,541...15,666,497 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 OMIM
ClinVar		 PMID:15705783 PMID:20404132 PMID:21990094 PMID:23812944 PMID:24777453 More... NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Tcl1a Tcl1 family Akt coactivator A ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:129,889,763...129,895,756
Ensembl chr 6:124,125,032...124,131,025 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutation:splice junction:		 OMIM
ClinVar
RGD		 PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:16199547 More... RGD:1580083 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Tunar transmembrane neural differentiation associated intracellular calcium regulator ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:130,011,067...130,058,157 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
familial chronic myelocytic leukemia-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf8 interferon regulatory factor 8 ISS OMIM:600080 MouseDO NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
Familial Myelofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO RGD PMID:12149188 RGD:10450737 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Familial myelofibrosis ClinVar PMID:25741868 NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23599270 NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295 		JBrowse link
juvenile myelomonocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap12 A-kinase anchoring protein 12 disease_progression ISO RGD PMID:26891149 RGD:14348967 NCBI chr 1:43,135,515...43,225,245
Ensembl chr 1:40,730,123...40,819,886 		JBrowse link
G Arhgap26 Rho GTPase activating protein 26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia		 OMIM
CTD
ClinVar		 PMID:10908648 NCBI chr18:30,835,806...31,237,945
Ensembl chr18:30,838,671...31,235,194 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia		 CTD
ClinVar		 PMID:20880116 PMID:21576631 PMID:21881046 PMID:22031865 PMID:22058207 More... NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Cbl Cbl proto-oncogene ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... RGD:11038806 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:22315502 PMID:9389708 RGD:10449526 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISS OMIM:607785 MouseDO NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 4:122,211,501...122,225,058
Ensembl chr 4:120,658,986...120,667,761 		JBrowse link
G Jak3 Janus kinase 3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23832011 PMID:23832011 RGD:11069125 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM:607785		 CTD
ClinVar
MouseDO		 PMID:1875403 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 More... NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Nf1 neurofibromin 1 ISO
ISS		 ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM:607785
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 PMID:1783401 More... NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia		 CTD
ClinVar		 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More... NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS		 ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM:607785
DNA:missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... RGD:11066398 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457648 NCBI chr 7:111,981,825...112,009,201
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
G Rras RAS related ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 1:104,637,061...104,640,841
Ensembl chr 1:95,500,566...95,504,357 		JBrowse link
G Rras2 RAS related 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 1:177,668,143...177,737,551
Ensembl chr 1:168,233,693...168,303,111 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23832011 PMID:26457647 NCBI chr18:74,465,616...74,827,455
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr  X:34,179,279...34,201,989
Ensembl chr  X:30,547,536...30,570,125 		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 treatment ISO RGD PMID:26314844 PMID:16917002 RGD:11081075, RGD:11081144 NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Ace angiotensin I converting enzyme ISO protein:increased activity:serum RGD PMID:22345095 RGD:11038914 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17096887 RGD:11035276 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr10:45,844,411...45,865,853
Ensembl chr10:45,343,395...45,366,331 		JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Arid4a AT-rich interaction domain 4A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Aurka aurora kinase A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:161,128,313...161,144,390 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Myelomatosis
protein:increased expression:serum		 ClinVar
RGD		 PMID:26619011 PMID:32856850 RGD:329955356 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:80,069,960...80,144,167
Ensembl chr 9:72,623,155...72,694,265 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12429644 PMID:14656874 RGD:11353847 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Bcl2l10 Bcl2-like 10 ISO protein:increased expression:bone marrow : RGD PMID:27455953 RGD:14392808 NCBI chr 8:84,987,833...84,993,878
Ensembl chr 8:76,107,326...76,113,367 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:132,394,703...132,462,414
Ensembl chr  X:127,537,538...127,584,087 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chr 1:203,137,778...203,154,962
Ensembl chr 1:193,708,167...193,725,359 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567 		JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr 7:33,228,149...33,230,406
Ensembl chr 7:31,341,027...31,343,649 		JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA:decreased expression:mononuclear cell: RGD PMID:23948411 RGD:11038794 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cbx7 chromobox 7 susceptibility ISO DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23955597 PMID:23955597 RGD:11352716 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		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:28035364 PMID:25061178 RGD:329845528, RGD:329845546 NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO DNA:snp:exon:c.870G>A (rs603965) (human)
ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Multiple myeloma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... RGD:1581171, RGD:11353784 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 9:20,891,696...20,987,199
Ensembl chr 9:13,394,169...13,489,371 		JBrowse link
G Cd40 CD40 molecule treatment ISO human cells in a mouse model RGD PMID:10866315 RGD:11522720 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		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:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:bone marrow, plasma cell (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16611307 PMID:22705596 RGD:11354971 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO DNA:hypermethylation::
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16008847 PMID:12681979 RGD:11252185 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2c cyclin-dependent kinase inhibitor 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:129,639,736...129,645,564
Ensembl chr 5:124,411,124...124,416,278 		JBrowse link
G Cfhr1 complement factor H-related 1 treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr13:53,946,298...53,961,282
Ensembl chr13:51,369,211...51,410,592 		JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16930142 RGD:4892645 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Crbn cereblon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma		 CTD
ClinVar		 PMID:26186254 NCBI chr 4:141,255,400...141,276,722
Ensembl chr 4:139,701,094...139,719,938 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7540856 PMID:8104070 PMID:8555506 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7534716 PMID:7540856 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility ISO DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) RGD PMID:18285692 RGD:11352726 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 treatment
no_association		 ISO DNA:polymorphisms: : RGD PMID:17666363 PMID:20684753 RGD:11352748, RGD:11352804 NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 no_association ISO DNA:polymorphisms: : RGD PMID:20684753 RGD:11352804 NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dsg2 desmoglein 2 disease_progression ISO RGD PMID:34245117 RGD:401851080 NCBI chr18:12,121,287...12,179,590
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335 		JBrowse link
G Eng endoglin severity ISO protein:increased expression:serum: RGD PMID:23576184 RGD:11041181 NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Ephx1 epoxide hydrolase 1 no_association
susceptibility		 ISO DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:rs2234922 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996 RGD:11252116, RGD:11252121, RGD:11252122 NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235 		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 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		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:22183071 PMID:17131345 RGD:11252199, RGD:401827277 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:80,829,935...80,838,388 		JBrowse link
G Faslg Fas ligand disease_progression ISO RGD PMID:16321857 RGD:11049149 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fcgr2a Fc gamma receptor 2A disease_progression
susceptibility		 ISO DNA:polymorphism: :rs1801274(human) RGD PMID:25850245 PMID:17315188 RGD:11040778, RGD:11040938 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelomatosis		 CTD
ClinVar		 PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Fgg fibrinogen gamma chain treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 2:170,652,929...170,660,372
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand disease_progression ISO protein:increased expression:serum: RGD PMID:26521986 RGD:11075232 NCBI chr 1:104,751,518...104,756,925
Ensembl chr 1:95,609,370...95,620,463 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO mRNA:increased expression:bone marrow RGD PMID:34274946 RGD:329901767 NCBI chr19:31,456,749...31,865,011
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8599825 RGD:11352777 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gpx3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 severity
no_association		 ISO
IAGP		 RGD PMID:17653713 PMID:15136237 RGD:10450826, RGD:10450846 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 disease_progression
no_association
treatment		 ISO DNA:polymorphism:cds:p.I105V(human)
DNA:polymorphism: :		 RGD PMID:23953887 PMID:18061666 PMID:17512053 RGD:10755413, RGD:10755419, RGD:11075094 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16949155 PMID:15136237 PMID:12624497 RGD:10450846, RGD:10450847 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G H19 H19 imprinted maternally expressed transcript severity ISO RNA:decrased expression:blood serum (human) RGD PMID:29470951 RGD:156430335 NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:41,914,425...41,915,206
Ensembl chr17:41,486,560...41,487,403 		JBrowse link
G H3c1 H3 clustered histone 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:41,796,236...41,796,759
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation, haplotype:cds:p.C282Y (human) RGD PMID:10383894 RGD:8694350 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hk1 hexokinase 1 ISO RGD PMID:19996089 RGD:11353882 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131 		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 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12855565 NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:serum: RGD PMID:7834632 PMID:7686390 RGD:11354981, RGD:11520780 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO protein:increased expression:serum,urine: RGD PMID:29940770 RGD:14985218 NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
protein:increased expression:serum		 RGD PMID:11307152 PMID:11022130 RGD:11041888, RGD:11049458 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)		 RGD PMID:25469832 PMID:17926179 PMID:1777241 RGD:11049156, RGD:11051973, RGD:11059513 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) RGD PMID:17926179 RGD:11051973 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist no_association ISO DNA:snp: :11100C>T (human)
DNA:repeats:intron:		 RGD PMID:17926179 PMID:10848780 RGD:11051973, RGD:11522764 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:SNP: :-228120T>C(rs2107356)(human) RGD PMID:17315188 RGD:11040938 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8520508 PMID:12855565 PMID:19330649 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:60,179,561...60,204,937
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression
treatment		 ISO DNA:translocation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18568025 PMID:10557056 PMID:17690696 PMID:21707574 RGD:11526161, RGD:11530019, RGD:11530055 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO DNA:hypermethylation RGD PMID:23114132 RGD:329902071 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:24,821,568...24,866,423
Ensembl chr  X:21,345,481...21,381,870 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539 		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 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar
RGD		 PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... RGD:1581756 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:3,980,801...4,014,029
Ensembl chr 1:2,160,411...2,193,640 		JBrowse link
G Lig4 DNA ligase 4 ISO DNA:polymorphisms
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis		 OMIM
CTD
ClinVar
RGD		 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More... RGD:1600305 NCBI chr16:86,220,345...86,228,930
Ensembl chr16:79,518,312...79,527,040 		JBrowse link
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 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Maf MAF bZIP transcription factor ISS OMIM:254500 MouseDO NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr 2:185,884,840...185,912,532
Ensembl chr 2:183,219,220...183,222,303 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M694V(human) RGD PMID:25202401 RGD:11531123 NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO RGD PMID:11830493 RGD:2317526 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mettl14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 2:214,215,165...214,231,412
Ensembl chr 2:211,530,602...211,546,821 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr15:27,476,659...27,491,134
Ensembl chr15:25,003,172...25,014,041 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:127,300,558...127,396,694
Ensembl chr 3:106,851,140...106,941,043 		JBrowse link
G Mir155 microRNA 155 disease_progression ISO miRNA:decreased expression:serum RGD PMID:25497370 PMID:28446295 RGD:21079441, RGD:24922226 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir17 microRNA 17 disease_progression ISO miRNA:increased expression:plasma cell RGD PMID:23718138 RGD:329337383 NCBI chr15:98,587,848...98,587,931
Ensembl chr15:92,180,629...92,180,712 		JBrowse link
G Mir19a microRNA 19a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr15:98,588,131...98,588,212
Ensembl chr15:92,180,912...92,180,993 		JBrowse link
G Mir27a microRNA 27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr19:40,859,603...40,859,689
Ensembl chr19:23,954,831...23,954,917 		JBrowse link
G Mir320a microRNA 320a ameliorates ISO human gene in mouse model RGD PMID:27086852 RGD:155882577 NCBI chr15:51,926,088...51,926,169
Ensembl chr15:45,516,392...45,516,473 		JBrowse link
G Mir92a1 microRNA 92a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr15:98,588,555...98,588,632
Ensembl chr15:92,181,336...92,181,413 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:108,597,299...108,612,455 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:missense mutations:cds:677C>T, 1298A>C (human) RGD PMID:24839819 RGD:10449397 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:polymorphism: :2756A>G(human) RGD PMID:17655928 RGD:11075095 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66G>A(human) RGD PMID:17655928 RGD:11075095 NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:9949172 NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Ncor2 nuclear receptor co-repressor 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:37,127,736...37,289,612
Ensembl chr12:31,466,412...31,628,319 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO RGD PMID:16540234 PMID:12377412 RGD:2298898, RGD:2298895 NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:79,731,677...79,735,952
Ensembl chr 6:73,996,601...73,999,791 		JBrowse link
G Nono non-POU domain containing, octamer-binding exacerbates ISO mRNA:increased expression: (human) RGD PMID:32410217 RGD:155900765 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Notch2 notch receptor 2 ISO protein:increased expression:bone marrow (human) RGD PMID:14726396 RGD:1580763 NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Nox1 NADPH oxidase 1 ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 no_association ISO DNA:missense mutation:cds:p.P187S (human)
DNA:missense mutation:cds:p.P187S (609C>T) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16949155 PMID:18156703 PMID:18061666 RGD:10769348, RGD:10755419 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nras NRAS proto-oncogene, GTPase treatment ISO DNA:mutation: :
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 ClinVar
RGD		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... RGD:11535049 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Nuak1 NUAK family kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873845 NCBI chr 7:21,217,729...21,289,608
Ensembl chr 7:19,329,933...19,401,913 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21917757 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pf4 platelet factor 4 ameliorates ISO RGD PMID:21693026 RGD:329901828 NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,298,308...17,299,365 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:18,699,389...18,708,045
Ensembl chr16:18,665,457...18,674,065 		JBrowse link
G Pml PML nuclear body scaffold severity ISO protein:increased expression:bone marrow (human) RGD PMID:22906876 RGD:41404686 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971 		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 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766 		JBrowse link
G Pon1 paraoxonase 1 severity
treatment
susceptibility		 ISO protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)		 RGD PMID:25520116 PMID:22348216 PMID:15136237 RGD:11552578, RGD:11040544, RGD:10450846 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16179254 PMID:24791872 RGD:11535030 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29158558 NCBI chr15:31,938,927...31,948,318
Ensembl chr15:27,968,910...27,978,296 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:180,188,792...180,199,847 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:19171422 RGD:9835349 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		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 chr18:3,198,188...3,263,643
Ensembl chr18:2,921,286...2,988,846 		JBrowse link
G Rbp1 retinol binding protein 1 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr 8:107,904,589...107,926,109
Ensembl chr 8:99,025,206...99,046,743 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:28492532 NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17283154 NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:splice variant RGD PMID:12560229 RGD:6482834 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:10,989,832...11,073,712 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:145,761,558...145,794,386 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:24,799,391...24,916,886
Ensembl chr 1:22,980,261...23,098,283 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15908783 PMID:15908783 RGD:1581238 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		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 chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16208410 RGD:1581367 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:117,425,106...117,525,495
Ensembl chr 4:115,871,265...115,964,193 		JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:21654517 RGD:11062101 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO DNA:hypermethylation: :
protein:decreased expression:serum:		 RGD PMID:23699600 PMID:22560388 RGD:11073605, RGD:11073614 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnf tumor necrosis factor treatment
no_association		 ISO DNA:SNP:promoter:-238G>A (human)
DNA:SNP:promoter:-308G>A (human)		 RGD PMID:12200397 PMID:12815949 RGD:10449450, RGD:10449453 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b treatment ISO RGD PMID:16531263 RGD:11038719 NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Tnfrsf17 TNF receptor superfamily member 17 ISO RGD PMID:15692072 RGD:2317306 NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Tp53 tumor protein p53 disease_progression
treatment		 ISO DNA:polymorphism:cds:p.R72P(human)
protein:increased expression:nucleus:
DNA:deletion: :
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 ClinVar
RGD		 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 More... RGD:11073716, RGD:11073728, RGD:11075073 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:141,236,937...141,259,700
Ensembl chr 4:139,680,858...139,703,611 		JBrowse link
G Tyms thymidylate synthetase treatment
no_association		 ISO DNA:polymorphism: :
DNA:repeats:5'UTR:		 RGD PMID:17512053 PMID:17655928 RGD:11075094, RGD:11075095 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
G Ulk4 unc-51 like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120009 NCBI chr 8:129,548,431...129,843,555
Ensembl chr 8:120,670,866...120,966,924 		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 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Xpo5 exportin 5 severity ISO DNA:snp:3' utr:c.*659A>C (rs11077) (human) RGD PMID:22539802 RGD:11041735 NCBI chr 9:22,237,760...22,275,745
Ensembl chr 9:14,740,182...14,778,171 		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 NCBI chr 6:136,684,558...136,694,822
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:17901044 RGD:8698655 NCBI chr 2:22,686,506...22,932,929
Ensembl chr 2:20,951,200...21,197,808 		JBrowse link
G Xrcc5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNP:3'-UTR (human) RGD PMID:17901044 RGD:8698655 NCBI chr 9:81,404,507...81,493,293
Ensembl chr 9:73,955,216...74,044,018 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:5,095,722...5,167,010 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 3:188,402,228...188,417,740
Ensembl chr 3:168,024,663...168,040,172 		JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 6:133,471,615...133,500,875
Ensembl chr 6:127,707,596...127,732,747 		JBrowse link
myelodysplastic/myeloproliferative neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dido1 death inducer-obliterator 1 ISS MouseDO NCBI chr 3:188,150,100...188,203,445
Ensembl chr 3:167,772,770...167,817,218 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20601953 PMID:24218139 RGD:11038772 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
myelofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 disease_progression ISO DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human)
DNA:mutations: :		 RGD PMID:21712540 PMID:23619563 RGD:11038705, RGD:11038768 NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Atg2b autophagy related 2B ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chr 6:130,237,055...130,267,205
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G C6h14orf132 similar to human chromosome 14 open reading frame 132 ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chr 6:124,365,466...124,398,449 JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: CALR-related condition | ClinVar Annotator: match by term: Primary myelofibrosis
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:p.L367fs*46, p.K385fs*47 (human)
DNA:mutations:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:24325356 PMID:24325359 PMID:25741868 PMID:28492532 PMID:24997152 More... RGD:11352753, RGD:11352747 NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23571153 RGD:11252175 NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit no_association ISO DNA:polymorphism: :p.K751Q (rs13181) (human) RGD PMID:23716550 RGD:11252191 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO DNA:mutations:exons, introns:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20601953 PMID:21921040 RGD:10450870 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:multiple: RGD PMID:21487043 RGD:11049484 NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:plasma, CD34+ cell, bone marrow fibroblast: RGD PMID:21487043 RGD:11049484 NCBI chr 1:104,751,518...104,756,925
Ensembl chr 1:95,609,370...95,620,463 		JBrowse link
G Gata1 GATA binding protein 1 ISO
ISS		 OMIM:254450 MouseDO
RGD		 PMID:16127162 RGD:10450748 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100 		JBrowse link
G Hfe homeostatic iron regulator no_association
susceptibility		 ISO DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)
DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)		 RGD PMID:19258483 PMID:19258483 RGD:10755491, RGD:10755491 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO
ISS		 idiopathic myelofibrosis, OMIM:254450
ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... RGD:1627655, RGD:10449377 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kmt2a lysine methyltransferase 2A exacerbates ISO DOID:4971DNA:mutations:multiple (human) RGD PMID:35731275 RGD:156420157 NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO
IMP		 ClinVar Annotator: match by term: Myelofibrosis with myeloid metaplasia | ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 More... RGD:10449004 NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISS OMIM:254450 MouseDO NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Ncor2 nuclear receptor co-repressor 2 ISS OMIM:254450 MouseDO NCBI chr12:37,127,736...37,289,612
Ensembl chr12:31,466,412...31,628,319 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15705783 PMID:20404132 PMID:21990094 PMID:24777453 PMID:25741868 More... NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar PMID:25741868 PMID:26936507 PMID:32581362 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:146,091,841...146,139,476 		JBrowse link
G Tcl1a Tcl1 family Akt coactivator A ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chr 6:129,889,763...129,895,756
Ensembl chr 6:124,125,032...124,131,025 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO protein:increased expression:plasma,bone marrow:
mRNA:increased expression:spleen,bone marrow:		 RGD PMID:23462118 PMID:23462118 PMID:23462118 RGD:11073609, RGD:11073609, RGD:11073609 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO associated with Myelodysplastic Syndromes; RGD PMID:26123119 RGD:11073713 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tunar transmembrane neural differentiation associated intracellular calcium regulator ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chr 6:130,011,067...130,058,157 JBrowse link
MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES ClinVar
OMIM		 PMID:29784638 NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578 		JBrowse link
Myeloid Leukemia, Accelerated Phase term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:24571310 NCBI chr17:86,240,683...86,250,044
Ensembl chr17:81,332,214...81,388,690 		JBrowse link
G Mir150 microRNA 150 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 1:104,741,487...104,741,571
Ensembl chr 1:95,605,024...95,605,108 		JBrowse link
Myeloid Leukemia, Chronic-Phase term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase disease_progression ISO DNA:hypermethylation:promoter RGD PMID:19344397 PMID:11559572 RGD:11038809, RGD:11038811 NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase disease_progression ISO RGD PMID:19344397 RGD:11038809 NCBI chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 treatment ISO DNA:polymorphism:intron :6986A>G (human) RGD PMID:23394475 RGD:11353797 NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO DNA:SNP: :rs11615 (human) RGD PMID:22821389 RGD:11252165 NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor disease_progression ISO mRNA,protein:increased expression:mononuclea cell, CD34+ cell RGD PMID:19887785 PMID:23411466 RGD:11040457, RGD:11040461 NCBI chr14:2,185,489...2,204,191
Ensembl chr14:2,042,434...2,051,814 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
myeloproliferative disorder with eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia ClinVar PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 More... NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
myeloproliferative neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISS MouseDO NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO RGD PMID:23897249 RGD:10450501 NCBI chr 5:143,583,126...143,604,382
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
G Cux1 cut-like homeobox 1 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm ClinVar PMID:25741868 NCBI chr12:25,728,393...26,062,497
Ensembl chr12:20,107,311...20,425,866
Ensembl chr 4:20,107,311...20,425,866 		JBrowse link
G Ddx41 DEAD-box helicase 41 susceptibility ISO ClinVar Annotator: match by term: DDX41-related condition | ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25920683 PMID:26712909 More... NCBI chr17:9,108,030...9,113,562
Ensembl chr17:9,103,010...9,108,415 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO DNA:translocation: : RGD PMID:12181402 RGD:10450606 NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G Itpkb inositol-trisphosphate 3-kinase B ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:25741868 PMID:35101336 NCBI chr13:94,601,072...94,696,180
Ensembl chr13:92,069,216...92,162,004 		JBrowse link
G Jak2 Janus kinase 2 ISS MouseDO NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:10678181 PMID:23460398 PMID:27069254 PMID:28492532 PMID:29872168 More... NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 More... NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:22703879 PMID:22718859 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO
ISS		 DNA:translocation: : MouseDO
RGD		 PMID:12181402 RGD:10450606 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:25741868 PMID:28492532 PMID:35101336 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:25741868 PMID:28492532 PMID:35101336 NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human) RGD PMID:19564637 RGD:11038680 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:14991917 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		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 chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
polycythemia vera term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Polycythemia rubra vera ClinVar NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO protein:increased expression:bone marrow, erythroid cell (human) RGD PMID:9475763 RGD:11353849 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Elane elastase, neutrophil expressed ISO
IMP		 protein:increased expression:plasma: RGD PMID:18768782 PMID:12186827 RGD:10450556, RGD:10450557 NCBI chr 7:10,467,877...10,469,725
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Epor erythropoietin receptor ISO mRNA:decreased expression:blood cell: RGD PMID:9207443 RGD:11041603 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:8569275 RGD:11059504 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22018952 RGD:10450875 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1634355 NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF		 CTD
ClinVar		 PMID:2816924 PMID:5773089 PMID:11300351 PMID:19429541 PMID:26467025 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hfe homeostatic iron regulator susceptibility
no_association		 ISO DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)
DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)		 RGD PMID:19258483 PMID:19258483 RGD:10755491, RGD:10755491 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Polycythemia rubra vera | ClinVar Annotator: match by term: Polycythemia vera ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Jak2 Janus kinase 2 ISO
ISS		 ClinVar Annotator: match by term: Polycythemia rubra vera | ClinVar Annotator: match by term: Polycythemia vera
OMIM:263300
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... RGD:1627655 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
Thrombocythemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic OMIM
ClinVar		 PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More... NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
Thrombocythemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 OMIM
ClinVar		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: MPIG6B-related condition | ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis OMIM
ClinVar		 PMID:23112346 PMID:25741868 PMID:27743390 PMID:28492532 NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735 		JBrowse link
thrombocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calr calreticulin ISO human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:26608331 RGD:11352752 NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:16244771 RGD:1598473 NCBI chr15:56,967,128...57,015,964
Ensembl chr15:50,557,717...50,606,556 		JBrowse link
G Epor erythropoietin receptor ISO RGD PMID:8400289 RGD:11041647 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:2265245 RGD:10450885 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Jak2 Janus kinase 2 ISO
IAGP		 essential thrombocythemia, OMIM:187950
associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :p.S755R, p.R938Q (human)		 CTD
RGD		 PMID:19287382 PMID:19287384 PMID:15781101 PMID:22467227 PMID:24398328 RGD:1627655, RGD:15039391, RGD:10449375 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO DNA:mutation:cds:c.317C > T,p.P106L(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15813844 PMID:16484586 PMID:19036112 RGD:11073684 NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211 		JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytosis		 CTD
ClinVar		 NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Thpo thrombopoietin susceptibility ISO DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15813844 PMID:33122006 PMID:9694695 RGD:1601655 Ensembl chr11:80,182,820...80,188,167 JBrowse link
Thrombocytosis, Benign Familial Microcytic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic ClinVar PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:16199547 More... NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
transient myeloproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: TRANSIENT ABNORMAL MYELOPOIESIS | ClinVar Annotator: match by term: Transient myeloproliferative syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:24056718 PMID:25741868 PMID:27993330 PMID:28492532 PMID:14636651 RGD:10450612 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome ClinVar PMID:10068652 PMID:12200707 PMID:15156185 PMID:23817177 PMID:28492532 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of cellular proliferation 7891
      cancer 5720
        organ system cancer 5467
          hematologic cancer 1088
            bone marrow cancer 505
              myeloid neoplasm 320
                Leukemoid Reaction + 2
                Myeloproliferative Disease, Autosomal Recessive 0
                Therapy-Related Myeloid Neoplasm 0
                chronic myeloid leukemia + 86
                chronic neutrophilic leukemia 1
                erythroleukemia + 25
                multiple myeloma + 168
                myelodysplastic/myeloproliferative neoplasm + 30
                myelofibrosis + 29
                myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 + 0
                myelophthisic anemia 0
                myeloproliferative neoplasm + 46
                thrombocytosis + 36
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Hemic and Lymphatic Diseases 4328
        hematopoietic system disease 3837
          Hematologic Neoplasms 1088
            Bone Marrow Neoplasms 505
              bone marrow cancer 505
                myeloid neoplasm 320
                  Leukemoid Reaction + 2
                  Myeloproliferative Disease, Autosomal Recessive 0
                  Therapy-Related Myeloid Neoplasm 0
                  chronic myeloid leukemia + 86
                  chronic neutrophilic leukemia 1
                  erythroleukemia + 25
                  multiple myeloma + 168
                  myelodysplastic/myeloproliferative neoplasm + 30
                  myelofibrosis + 29
                  myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 + 0
                  myelophthisic anemia 0
                  myeloproliferative neoplasm + 46
                  thrombocytosis + 36
paths to the root