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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:bone marrow cancer
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Accession:DOID:4960 term browser browse the term
Definition:A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. (DO)
Synonyms:exact_synonym: malignant bone Marrow tumor;   malignant neoplasm of bone marrow
 primary_id: RDO:9004799
 xref: ICD10CM:D47.1
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr17:9,108,074...9,113,561 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO OMIM NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:1,579,816...1,601,120 		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 chr12:12,659,946...12,735,581 		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 3:32,338,214...32,350,916 		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 chr10:81,733,658...81,738,872 		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 8:54,013,547...54,089,317 		JBrowse link
G Npm1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr10:18,245,739...18,255,913
Ensembl chr10:18,245,740...18,256,024
Ensembl chr  X:18,245,740...18,256,024 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr 1:165,906,405...166,003,366
Ensembl chr 1:165,906,405...166,003,366 		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 chr15:54,780,858...54,911,857 		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 chr10:54,798,851...54,810,299 		JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia-myelodysplastic syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3239563 PMID:9326931 PMID:10204841 PMID:10398237 PMID:10632111 More... NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
AMED syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO ClinVar Annotator: match by term: AMED syndrome, digenic OMIM
ClinVar		 PMID:25741868 PMID:33355142 NCBI chr 2:229,648,557...229,660,964
Ensembl chr 2:229,648,501...229,665,232 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chr12:40,610,244...40,643,220
Ensembl chr12:40,610,224...40,643,219 		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 3:162,273,828...162,341,742 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:15050920 RGD:11352668 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		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 chr11:45,329,044...45,564,925 		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 chr18:74,465,616...74,827,455 		JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 4 | ClinVar Annotator: match by term: HSPA9-related condition OMIM
ClinVar		 PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 PMID:26598328 More... NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,804,774...26,828,398 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:129,752,902...129,763,278
Ensembl chr 6:129,752,840...129,763,278 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory 		OMIM
CTD
ClinVar		 PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chr 8:128,713,180...128,725,968
Ensembl chr 8:128,713,131...128,725,966 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Sideroblastic anemia 3 OMIM
ClinVar		 PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 More... NCBI chr 6:129,752,902...129,763,278
Ensembl chr 6:129,752,840...129,763,278 		JBrowse link
Autosomal Sideroblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chr 7:122,422,971...122,426,971
Ensembl chr 7:122,422,982...122,428,401 		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 4:157,444,697...157,456,356 		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 chr20:13,468,732...13,596,333 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:12740446 RGD:734951 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		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 1:104,741,487...104,741,571 		JBrowse link
G Tcn2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chr14:83,036,935...83,052,187
Ensembl chr14:83,036,935...83,051,552 		JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp72 signal recognition particle 72 ISO ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22541560 PMID:25741868 PMID:28492532 NCBI chr14:31,522,424...31,549,978
Ensembl chr14:31,522,963...31,550,151 		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 3:35,377,391...35,480,846 		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 chr20:13,468,732...13,596,333 		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 chr14:90,469,172...90,557,574 		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
Ensembl chr 4:179,919,802...179,949,320 		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 2:193,271,430...193,278,543 		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 9:63,986,829...64,026,719 		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 4:26,312,409...26,397,135 		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 1:252,614,017...252,673,471 		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 4:89,005,969...89,132,493 		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 3:35,377,391...35,480,846 		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 chr13:71,224,019...71,389,775 		JBrowse link
G Ace angiotensin I converting enzyme ISO RGD PMID:19761684 RGD:11039056 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Agt angiotensinogen ISO RGD PMID:19761684 RGD:11039056 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		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 6:137,535,390...137,552,610 		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 4:151,203,949...151,251,126 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO RGD PMID:20728382 RGD:11353850 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:161,745,540...161,764,907
Ensembl chr 1:161,745,540...161,764,907 		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 chr20:13,468,732...13,596,333 		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 chr10:103,572,080...103,582,155 		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 1:176,829,305...176,864,739 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:62,558,823...62,565,626 		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 2:221,140,256...221,152,726 		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 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 3:174,209,719...174,224,847 		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 4:169,490,876...169,496,498 		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 5:109,100,772...109,119,248 		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 8:23,650,721...23,674,786
Ensembl chr 8:23,650,865...23,677,696 		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 chr11:97,024,782...97,067,457 		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 7:20,417,107...20,481,822 		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 3:98,830,483...98,860,447 		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 8:66,991,970...66,998,012 		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 chr12:21,919,940...21,960,154 		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 8:27,716,797...27,763,119 		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 6:32,512,070...32,614,970 		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 3:162,604,037...162,629,313 		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 3:163,524,739...163,535,563 		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 1:88,160,988...88,175,102 		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 4:77,624,223...77,687,183 		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 1:241,205,935...241,246,104 		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 chr13:76,688,243...76,695,503 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8632671 RGD:11344957 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		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 chr14:81,211,800...81,227,209 		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 1:160,841,066...161,036,940 		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 8:117,905,280...117,906,581 		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 1:210,767,237...210,769,705 		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 chr11:84,210,633...84,213,061 		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 chr10:25,635,915...25,665,390 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		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 3:38,453,041...38,458,790 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:20305143 RGD:11049154 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		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 3:137,030,205...137,036,601 		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 3:27,509,798...27,525,732 		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 chr20:6,751,357...6,812,294 		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 7:55,176,560...55,200,791 		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 1:104,741,487...104,741,571 		JBrowse link
G Mlf1 myeloid leukemia factor 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr 2:153,958,060...153,991,705
Ensembl chr 2:153,958,546...153,994,220 		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 5:163,748,321...163,768,105 		JBrowse link
G Ncstn nicastrin ISS OMIM:608232 MouseDO NCBI chr13:87,062,827...87,078,839
Ensembl chr13:87,062,831...87,078,839 		JBrowse link
G Npm1 nucleophosmin 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr10:18,245,739...18,255,913
Ensembl chr10:18,245,740...18,256,024
Ensembl chr  X:18,245,740...18,256,024 		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 chr19:52,205,314...52,220,260 		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 chr10:92,090,235...92,151,839 		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 chr10:54,302,641...54,314,211 		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 9:99,454,830...99,496,993 		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 5:166,743,050...166,777,999 		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:102,862,457...102,867,725
Ensembl chr  X:102,861,881...102,870,708 		JBrowse link
G Prtn3 proteinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 7:10,472,750...10,482,037
Ensembl chr 7:10,472,755...10,482,474 		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 chr20:4,576,843...4,581,653 		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 chr20:4,598,475...4,604,118 		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 9:63,986,829...64,026,719 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISS OMIM:608232 MouseDO NCBI chr12:40,391,755...40,414,336
Ensembl chr12:40,392,633...40,414,335 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISS OMIM:608232 MouseDO NCBI chr 1:212,367,867...212,379,952
Ensembl chr 1:212,367,867...212,377,497 		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 chr18:69,518,988...69,549,684 		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 chr10:73,336,422...73,342,548 		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 chr10:86,285,547...86,310,184 		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 1:31,466,056...31,488,111 		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 1:90,324,046...90,340,899 		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 7:60,643,613...60,734,099 		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 9:22,439,392...22,468,194 		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 3:112,021,641...112,068,444 		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 1:89,268,644...89,296,613 		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 3:162,273,828...162,341,742 		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 5:109,114,322...109,134,855 		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 5:143,583,213...143,602,411 		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 4:77,624,223...77,687,183 		JBrowse link
G Kdm6a lysine demethylase 6A ISS MouseDO NCBI chr  X:6,920,374...7,060,027
Ensembl chr  X:6,920,343...7,059,960 		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 2:193,271,430...193,278,543 		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 2:224,662,654...224,746,186 		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 5:143,583,213...143,602,411 		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 6:31,012,091...31,035,297 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:54,460,636...54,483,049
Ensembl chr19:54,468,690...54,514,496 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:80,311,269...80,321,678
Ensembl chr11:80,311,214...80,327,828 		JBrowse link
essential thrombocythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr19:40,213,239...40,219,236 		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 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:140,164,302...140,176,475 		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 7:10,467,877...10,469,725 		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 2:122,164,454...122,224,493 		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 1:236,408,662...236,468,762 		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:11133753 PMID:15269348 PMID:15531462 PMID:16199547 More... RGD:10449014, RGD:10449016 NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:137,259,288...137,272,177 		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 1:17,759,309...17,792,547 		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 chr12:20,754,208...20,780,322 		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 7:113,420,710...113,438,343 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO 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 chr12:40,392,633...40,414,335 		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 1:90,324,046...90,340,899 		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 chr11:93,686,834...93,693,320 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 2:206,723,044...206,742,801 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		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 chr19:65,699,284...65,721,062 		JBrowse link
Familial Erythroleukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: DI GUGLIELMO DISEASE, FAMILIAL ClinVar
OMIM		 PMID:25741868 PMID:27416908 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:1,579,816...1,601,120 		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:17,201,633...17,209,459 		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 chr12:40,392,633...40,414,335 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23599270 NCBI chr 2:186,244,839...186,305,177
Ensembl chr 2:186,244,842...186,305,177 		JBrowse link
Ghosal hematodiaphyseal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome | ClinVar Annotator: match by term: TBXAS1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8702713 PMID:17203301 PMID:18264100 PMID:19114962 PMID:22735388 More... NCBI chr 4:68,631,841...68,803,959
Ensembl chr 4:68,631,838...68,803,969 		JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28000701 PMID:28492532 More... NCBI chr 8:131,887,728...131,983,866
Ensembl chr 8:131,887,753...131,983,866 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO ClinVar Annotator: match by term: SLC11A2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35457224 NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941 		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 1:43,199,008...43,225,557 		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 chr18:30,702,602...31,489,047
Ensembl chr18:31,089,787...31,489,047 		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 3:162,273,828...162,341,742 		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 8:53,384,656...53,468,067 		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 chr10:38,887,692...38,890,031 		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 6:32,512,070...32,614,970 		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 4:77,624,223...77,687,183 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISS OMIM:607785 MouseDO NCBI chr12:12,660,035...12,735,584
Ensembl chr12:12,659,946...12,735,581 		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 4:122,211,829...122,225,055 		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 chr16:18,420,415...18,433,222 		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
Ensembl chr 4:179,919,802...179,949,320 		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 chr10:64,804,266...65,034,946 		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 2:193,271,430...193,278,543 		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 chr12:41,043,785...41,085,577 		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 7:111,996,742...112,009,267 		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 1:104,634,951...104,640,841 		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 1:177,668,144...177,737,551 		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 chr11:45,329,044...45,564,925 		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 chr18:74,465,616...74,827,455 		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 chr12:40,392,633...40,414,335 		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:34,179,311...34,201,986 		JBrowse link
Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow OMIM
ClinVar		 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 More... NCBI chr 4:32,316,748...32,331,112
Ensembl chr 4:32,222,623...32,331,067 		JBrowse link
Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2 OMIM
ClinVar		 PMID:2569483 PMID:25741868 PMID:28346228 PMID:28487541 PMID:28492532 More... NCBI chr 4:32,119,318...32,139,008
Ensembl chr 4:32,117,137...32,171,759 		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 4:89,005,969...89,132,493 		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 chr10:91,409,819...91,430,942 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17096887 RGD:11035276 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		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 chr10:45,843,656...45,869,658 		JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Arid4a AT-rich interaction domain 4A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:95,258,429...95,335,987
Ensembl chr 6:95,258,429...95,329,840 		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 8:62,727,291...62,828,629 		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 3:181,546,742...181,562,771 		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 3:129,549,318...129,555,356 		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 chr16:6,452,974...6,461,952 		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 9:80,069,960...80,176,873 		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 chr13:23,204,464...23,366,900 		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 3:161,745,540...161,764,907
Ensembl chr 1:161,745,540...161,764,907 		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 8:84,987,833...84,993,872 		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:132,397,069...132,461,976 		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 1:203,137,778...203,154,962 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Plasma cell myeloma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931 		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 chr12:4,895,447...4,936,194 		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 7:33,227,833...33,230,406 		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 8:53,384,656...53,468,067 		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 7:113,341,030...113,358,716
Ensembl chr 7:113,341,030...113,358,346 		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 chr10:67,503,077...67,504,875 		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 2:237,222,432...237,225,883 		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 1:209,518,288...209,527,810 		JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301
Ensembl chr 4:161,653,048...161,680,301 		JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 9:20,891,696...20,987,199
Ensembl chr 9:20,891,704...20,987,033 		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 3:174,209,719...174,224,847 		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:140,164,302...140,176,475 		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 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 chr11:77,647,600...77,725,361 		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 7:64,771,147...64,775,163 		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 5:109,100,772...109,119,248 		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 5:129,639,736...129,644,891 		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 chr13:53,919,927...53,961,303 		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 chr13:48,193,800...48,201,825 		JBrowse link
G Crbn cereblon ISO CTD Direct Evidence: marker/mechanism CTD PMID:26186254 NCBI chr 4:141,255,400...141,276,722
Ensembl chr 4:141,257,243...141,276,038 		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 chr10:11,822,620...11,968,266 		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 chr10:38,887,692...38,890,031 		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 chr10:84,157,211...84,159,860 		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 9:69,813,265...69,819,973 		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 8:66,991,970...66,998,012 		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 1:247,879,078...247,916,798 		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 7:115,761,696...115,771,837 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:82,231,922...82,258,299
Ensembl chr15:82,231,283...82,258,333 		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 6:32,512,070...32,614,970 		JBrowse link
G Dsg2 desmoglein 2 disease_progression ISO RGD PMID:34245117 RGD:401851080 NCBI chr18:12,121,287...12,179,590
Ensembl chr18:12,121,181...12,179,590 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:39,307,320...39,322,023
Ensembl chr  X:39,307,137...39,322,021 		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 3:36,326,202...36,370,933 		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 chr13:95,246,080...95,321,981 		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 1:88,118,891...88,139,120 		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 1:88,160,988...88,175,102 		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 1:89,957,760...89,966,213 		JBrowse link
G Faslg Fas ligand disease_progression ISO RGD PMID:16321857 RGD:11049149 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		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 chr16:53,909,556...54,028,609 		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 chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Plasma cell myeloma 		CTD
ClinVar		 PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		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 2:170,652,234...170,661,170 		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 chr12:12,659,946...12,735,581 		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 1:104,749,983...104,757,038 		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 chr19:31,522,293...31,864,957 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8599825 RGD:11352777 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		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 chr10:39,529,448...39,537,405 		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 2:198,338,008...198,343,569 		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 1:210,767,237...210,769,705 		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 chr20:12,856,083...12,873,019 		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 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 chr17:41,914,431...41,916,129 		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 chr17:41,795,396...41,797,281
Ensembl chr17:41,795,396...41,797,281 		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 9:99,955,116...100,197,637 		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 chr17:41,841,252...41,851,208 		JBrowse link
G Hk1 hexokinase 1 ISO RGD PMID:19996089 RGD:11353882 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		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 1:205,725,975...205,729,590 		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 chr12:26,430,640...26,432,301 		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 8:27,829,161...27,841,617 		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 1:50,526,878...50,615,265 		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 chr13:45,025,087...45,029,580 		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 3:136,979,805...136,998,013 		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 3:137,030,205...137,036,601 		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 3:27,509,798...27,525,732 		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 1:189,544,988...189,570,636 		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 4:5,889,999...5,894,610 		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 2:60,181,382...60,211,027 		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 chr17:33,930,471...33,948,730 		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 chr19:65,699,284...65,721,062 		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:24,824,859...24,866,423 		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 4:10,353,735...10,568,620 		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 7:131,859,696...131,900,072 		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
Ensembl chr 4:179,919,802...179,949,320 		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 1:3,980,544...4,014,029 		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: Plasma cell myeloma 		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 chr16:86,220,279...86,229,926 		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 1:205,729,409...205,744,759 		JBrowse link
G Maf MAF bZIP transcription factor ISS OMIM:254500 MouseDO NCBI chr19:60,259,200...60,622,145
Ensembl chr19:60,269,541...60,621,378 		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 2:185,908,168...185,938,782 		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 chr10:12,293,782...12,303,333 		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 4:46,756,506...46,870,821 		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 2:214,215,165...214,231,412 		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 chr15:27,476,660...27,487,487 		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 3:127,328,264...127,394,826 		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 chr11:37,261,114...37,261,178 		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 chr15:98,587,848...98,587,931 		JBrowse link
G Mir19a microRNA 19a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr15:98,588,131...98,588,212
Ensembl chr15:98,588,131...98,588,212 		JBrowse link
G Mir27a microRNA 27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr19:40,859,603...40,859,689 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 chr15:51,926,088...51,926,169 		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 chr15:98,588,555...98,588,632 		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 8:117,475,968...117,490,515 		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 5:163,748,321...163,768,105 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:polymorphism: :2756A>G(human) RGD PMID:17655928 RGD:11075095 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		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 1:36,695,460...36,727,807 		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 2:176,933,047...176,938,491 		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 chr12:37,127,686...37,289,612 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		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 6:78,593,847...78,597,072 		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:70,593,888...70,611,979 		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 2:188,299,336...188,432,823 		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:101,572,340...101,595,520 		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 chr19:52,205,314...52,220,260 		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 2:193,271,430...193,278,543 		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 7:21,217,681...21,289,354 		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 chr13:94,839,433...94,871,567 		JBrowse link
G Pf4 platelet factor 4 ameliorates ISO RGD PMID:21693026 RGD:329901828 NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,582,477...17,583,392 		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 chr16:18,699,448...18,709,665 		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 8:67,523,164...67,576,083 		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 1:88,135,493...88,138,769
Ensembl chr 1:88,135,493...88,138,769 		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 4:34,261,289...34,287,924 		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:102,862,457...102,867,725
Ensembl chr  X:102,861,881...102,870,708 		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 chr15:31,938,719...31,948,426 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr20:3,206,886...3,208,307
Ensembl chr20:3,206,886...3,208,307 		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 4:181,919,400...181,930,454 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:19171422 RGD:9835349 NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,985,275...27,036,571 		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 chr18:3,197,310...3,263,985 		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 8:107,887,417...107,983,847 		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 7:110,304,094...110,311,258 		JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chr11:24,067,869...25,108,694
Ensembl chr11:24,067,878...25,108,694 		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 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 chr11:45,329,044...45,564,925 		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 3:31,388,223...31,474,417 		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 3:166,181,588...166,214,410 		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 1:24,799,396...24,807,231 		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 chr12:40,392,633...40,414,335 		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 1:50,043,325...50,050,168 		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 chr10:40,017,075...40,039,268 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16208410 RGD:1581367 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820 		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 7:9,928,685...9,953,044 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		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 2:224,662,654...224,746,186 		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 4:117,429,857...117,520,486 		JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:21654517 RGD:11062101 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318 		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 1:90,324,046...90,340,899 		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 chr20:3,626,532...3,629,303 		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 chr15:51,250,112...51,278,082 		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 chr10:46,301,316...46,324,408 		JBrowse link
G Tnfrsf17 TNF receptor superfamily member 17 ISO RGD PMID:15692072 RGD:2317306 NCBI chr10:4,808,023...4,813,857 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 5:82,266,436...82,292,858 		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: Plasma cell myeloma 		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 chr10:54,798,851...54,810,299 		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 9:120,763,386...120,776,097 		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 8:129,548,431...129,843,501 		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 9:22,439,392...22,468,194 		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 6:27,282,057...27,344,350 		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 9:22,237,760...22,275,745 		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 6:136,684,558...136,694,822 		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 2:22,686,508...22,933,160 		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 9:81,375,863...81,493,293 		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 8:13,380,551...13,451,437 		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 3:188,402,231...188,417,740 		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 6:133,471,562...133,497,257 		JBrowse link
myelodysplastic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl6 acyl-CoA synthetase long-chain family member 6 ISO ClinVar Annotator: match by term: ACSL6-related condition ClinVar PMID:25741868 NCBI chr10:38,940,668...38,999,515
Ensembl chr10:38,940,747...39,002,873 		JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B treatment ISO RGD PMID:22608605 RGD:11046272 NCBI chr12:14,595,939...14,609,501
Ensembl chr12:14,595,678...14,609,504 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 treatment
disease_progression 		ISO
ISS 		ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome
OMIM:614286
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds: 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:16199547 PMID:20880116 PMID:21576631 PMID:21706002 PMID:21881046 More... RGD:11038769, RGD:10450876, RGD:11038712, RGD:11038707 NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:162,273,828...162,341,742 		JBrowse link
G Atg7 autophagy related 7 ISS OMIM:614286 MouseDO NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:149,391,390...149,598,319 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:19157545 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISS OMIM:614286 MouseDO NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Bcl2l10 Bcl2-like 10 susceptibility
treatment 		ISO DNA:SNP:cds:p.Leu21Arg rs2231292)(human) RGD PMID:24047476 PMID:21760590 RGD:11058140, RGD:14392809 NCBI chr 8:84,987,833...84,993,878
Ensembl chr 8:84,987,833...84,993,872 		JBrowse link
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 chr17:86,243,491...86,250,024 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, monocyte (human) RGD PMID:17805323 RGD:11520793 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO DNA:deletion: : RGD PMID:9171997 RGD:10450601 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A severity ISO DNA:hypermethylation: : RGD PMID:20658957 RGD:11251750 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B disease_progression
treatment 		ISO DNA:altered methylation: :
CTD Direct Evidence: marker/mechanism
DNA:hypermethylation: :
DNA:altered methylation:promoter: 		CTD
RGD		 PMID:17294728 PMID:20658957 PMID:23683424 PMID:17611569 RGD:11251750, RGD:11252195, RGD:11252169 NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:109,114,322...109,134,855 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16105982 PMID:14562111 RGD:11341680 NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:67,679,559...67,726,434 		JBrowse link
G Crebbp CREB binding protein ISS OMIM:614286 MouseDO NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Csf3r colony stimulating factor 3 receptor disease_progression ISO DNA:SNP:cds:p.E785K(human)
Protein:decreased expression:CD34++ cell: 		RGD PMID:15644419 PMID:12670333 RGD:10450471, RGD:10450504 NCBI chr 5:143,583,126...143,604,382
Ensembl chr 5:143,583,213...143,602,411 		JBrowse link
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19874806 NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,935,625...4,096,581 		JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar PMID:25741868 PMID:26712909 PMID:27133828 PMID:27795557 PMID:28492532 More... NCBI chr17:9,108,030...9,113,562
Ensembl chr17:9,108,074...9,113,561 		JBrowse link
G Ddx42 DEAD-box helicase 42 ISO mRNA:decreased expression:bone marrow mononuclear cell (human) RGD PMID:16211284 RGD:9850279 NCBI chr10:91,648,719...91,680,730
Ensembl chr10:91,648,248...91,680,729 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18575777 NCBI chr 6:134,192,491...134,199,779
Ensembl chr 6:134,192,518...134,200,529 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32431489 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha disease_progression ISO DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.R882 (human) 		CTD
RGD		 PMID:32431489 PMID:21415852 PMID:22066015 RGD:11041122, RGD:11041124 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:32431489 NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313 		JBrowse link
G Egr1 early growth response 1 ISS OMIM:614286 MouseDO NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,736,838...26,740,843 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12670338 PMID:16076383 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:34209587 PMID:36479692 NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,907,460...83,931,481 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:25154760 PMID:26482462 RGD:11252197, RGD:11075607 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:88,160,988...88,175,102 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO DNA:translocation: :
DNA:deletion: : 		RGD PMID:12203785 PMID:18476590 PMID:9171997 RGD:1581019, RGD:10450605, RGD:10450601 NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:168,580,138...168,819,802 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:bone marrow, mononuclear cell (human) 		CTD
RGD		 PMID:20601954 PMID:22869879 PMID:21125401 RGD:10450880, RGD:10450887 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183 		JBrowse link
G Fas Fas cell surface death receptor ISO mRNA,protein:increased expression:bone marrow:
protein:increased expression:peripheral blood mononuclear cell: 		RGD PMID:9557605 PMID:15686130 RGD:11049447, RGD:11049448 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Faslg Fas ligand ISO mRNA,protein:increased expression:bone marrow:
protein:decreased expression:peripheral blood mononuclear cell: 		RGD PMID:9557605 PMID:15686130 RGD:11049447, RGD:11049448 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO RGD PMID:24264604 RGD:11352253 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia ClinVar PMID:22417203 NCBI chr12:12,660,035...12,735,584
Ensembl chr12:12,659,946...12,735,581 		JBrowse link
G Gata1 GATA binding protein 1 severity
disease_progression 		ISO
ISS 		OMIM:614286
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:bone marrow 		MouseDO
CTD
RGD		 PMID:28963909 PMID:15572684 PMID:12145700 PMID:17570514 RGD:10450734, RGD:10450753, RGD:10450752 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
G Gata2 GATA binding protein 2 severity ISO mRNA:increased expression:bone marrow:
ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:4508672 PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 More... RGD:10450753 NCBI chr 4:122,211,501...122,225,058
Ensembl chr 4:122,211,829...122,225,055 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO mRNA:decreased expression:bone marrow: RGD PMID:18371060 RGD:11040459 NCBI chr14:2,185,489...2,204,191
Ensembl chr14:2,187,286...2,196,730 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Myelodysplastic syndromes
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
treatment 		ISO RGD PMID:16620556 PMID:15595630 RGD:10450800, RGD:10450836 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:missense mutation:cds:313A>G (p.I105V)(human) RGD PMID:23278642 RGD:10755416 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 disease_progression
no_association 		ISO RGD PMID:8569364 PMID:23859717 PMID:9164324 RGD:10450772, RGD:10450840, RGD:10450779 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28963909 NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:147,138,156...147,165,387 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutations:cds:p.H63D, p.C282Y (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17001480 PMID:12624489 RGD:10755559 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 disease_progression ISO DNA:mutation: : RGD PMID:24936872 RGD:11522722 NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:74,027,892...74,049,555 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Myelodysplastic syndromes ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21250968 PMID:21596855 More... NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:143,439,323...143,467,248 		JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:bone marrow RGD PMID:10697556 RGD:10450881 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Myelodysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:16121636 RGD:10755468 NCBI chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800 		JBrowse link
G Kmt2e lysine methyltransferase 2E ISO RGD PMID:18952892 RGD:9588548 NCBI chr 4:12,550,570...12,655,329
Ensembl chr 4:12,550,570...12,619,721 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27992414 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		JBrowse link
G Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32215045 NCBI chr13:48,976,193...49,095,870
Ensembl chr13:48,976,193...49,095,857 		JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16094422 NCBI chr19:40,356,967...40,359,834
Ensembl chr19:40,354,819...40,359,834 		JBrowse link
G Macroh2a1 macroH2A.1 histone ISS OMIM:614286 MouseDO NCBI chr17:8,484,340...8,547,268
Ensembl chr17:8,484,246...8,547,257 		JBrowse link
G Mdm2 MDM2 proto-oncogene no_association ISO DNA:SNP:cds:309T>G(rs2279744)(human) RGD PMID:22668018 RGD:11073731 NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:55,176,560...55,200,791 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.M694V,E148Q(human) RGD PMID:22351163 RGD:11531114 NCBI chr10:12,288,514...12,303,337
Ensembl chr10:12,293,782...12,303,333 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G(human) RGD PMID:18774170 RGD:11075096 NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:36,695,460...36,727,807 		JBrowse link
G Mybl2 MYB proto-oncogene like 2 ISS OMIM:614286 MouseDO NCBI chr 3:172,124,765...172,153,221
Ensembl chr 3:172,116,550...172,153,221 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10914558 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028 		JBrowse link
G Npm1 nucleophosmin 1 ISS
ISO 		OMIM:614286
ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia 		MouseDO
ClinVar		 PMID:15659725 PMID:20026798 PMID:32581362 NCBI chr10:18,245,739...18,255,913
Ensembl chr10:18,245,740...18,256,024
Ensembl chr  X:18,245,740...18,256,024 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 no_association ISO DNA:missense mutation:cds:609C>T (p.P187S) (human) RGD PMID:23643325 RGD:10769356 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:52,205,314...52,220,260 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia ClinVar
RGD		 PMID:15951308 PMID:25741868 PMID:28098151 PMID:28492532 PMID:28594414 More... RGD:11535060 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543 		JBrowse link
G Plcb1 phospholipase C beta 1 severity
treatment 		ISO mRNA:decreased expression:bone marrow, blood, mononuclear cell (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:19805378 PMID:16820933 PMID:21109771 RGD:11535164, RGD:11535956 NCBI chr 3:142,512,765...143,224,042
Ensembl chr 3:142,513,033...143,225,646 		JBrowse link
G Pmepa1 prostate transmembrane protein, androgen induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32215045 NCBI chr 3:182,430,193...182,478,649
Ensembl chr 3:182,430,193...182,478,649 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISS OMIM:614286 MouseDO NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO mRNA:increased expression:bone marrow, blood (human) RGD PMID:24763007 RGD:11535028 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:102,861,881...102,870,708 		JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:18551404 RGD:9835346 NCBI chr 5:155,157,511...155,222,622
Ensembl chr 5:155,157,558...155,222,622 		JBrowse link
G Runx1 RUNX family transcription factor 1 disease_progression ISO DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple
ClinVar Annotator: match by term: Myelodysplasia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:18723428 PMID:25741868 PMID:27992414 PMID:17910630 RGD:11251705 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:45,329,044...45,564,925 		JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Myelodysplastic syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:27182967 PMID:28492532 PMID:30046003 PMID:37160314 NCBI chr 4:32,119,318...32,139,008
Ensembl chr 4:32,117,137...32,171,759 		JBrowse link
G Samd9l sterile alpha motif domain containing 9 like ISS OMIM:614286 MouseDO NCBI chr 4:32,316,748...32,331,112
Ensembl chr 4:32,222,623...32,331,067 		JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO
ISS 		ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia | ClinVar Annotator: match by term: SF3B1-related condition
OMIM:614286
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:21909114 PMID:21995386 PMID:25741868 PMID:28492532 PMID:33978189 NCBI chr 9:63,986,829...64,026,723
Ensembl chr 9:63,986,829...64,026,719 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO mRNA:decreased expression:PBMCs (human) RGD PMID:12802501 RGD:1580610 NCBI chr10:38,509,072...38,536,240
Ensembl chr10:38,509,072...38,536,077 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18283525 NCBI chr19:51,072,209...51,155,639
Ensembl chr19:51,072,209...51,085,936 		JBrowse link
G Sphk1 sphingosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18283525 NCBI chr10:102,257,413...102,263,086
Ensembl chr10:102,258,975...102,263,082 		JBrowse link
G Srsf11 serine and arginine rich splicing factor 11 ISO mRNA:splice variant:bone marrow, hematopoietic stem cell (human) RGD PMID:24244432 RGD:11038800 NCBI chr 2:249,733,464...249,760,296
Ensembl chr 2:249,733,464...249,760,499 		JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO
ISS 		DNA:missense mutations:cds:multiple (human)
OMIM:614286 		MouseDO
RGD		 PMID:23280334 RGD:11039052 NCBI chr10:102,550,962...102,554,200
Ensembl chr10:102,553,072...102,554,141 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:27992414 NCBI chr  X:125,839,660...125,971,209
Ensembl chr  X:125,840,401...125,971,209 		JBrowse link
G Tert telomerase reverse transcriptase severity ISO mRNA:splice variants:cds
ClinVar Annotator: match by term: Myelodysplasia 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:29463756 PMID:33718801 PMID:24844605 More... RGD:11038659, RGD:11038661 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 severity ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple
DNA:missense mutations, nonsense mutations, splice-site mutation:multiple 		OMIM
CTD
RGD		 PMID:19483684 PMID:27992414 PMID:23099237 PMID:20693430 RGD:10450876, RGD:11038679 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:224,662,654...224,746,186 		JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28963909 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194 		JBrowse link
G Tnf tumor necrosis factor disease_progression ISO protein:increased expression:serum
mRNA:increased expression:bone marrow 		RGD PMID:15888251 PMID:10697556 RGD:10450530, RGD:10450881 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tp53 tumor protein p53 disease_progression
treatment
no_association 		ISO DNA:mutation: :
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
DNA:SNP:cds: p.R72P(rs1042522)(human) 		CTD
RGD		 PMID:27992414 PMID:24836762 PMID:25412846 PMID:25573287 PMID:22668018 More... RGD:11073714, RGD:11057925, RGD:11075071, RGD:11073731, RGD:11073729 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158538 NCBI chr20:9,744,206...9,755,146
Ensembl chr20:9,744,207...9,755,094 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 no_association ISO DNA:SNP: :p.R280H (human)
DNA:SNP: :p.R194W, p.R399Q (human) 		RGD PMID:26482462 PMID:26482462 RGD:11075607, RGD:11075607 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:89,268,644...89,296,613 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO RGD PMID:15705784 RGD:1580640 NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:73,563,732...74,001,041 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:multiple (human)
DNA:missense mutation:multiple (human) 		CTD
RGD		 PMID:27992414 PMID:28220884 PMID:22343920 PMID:28942350 PMID:25586593 RGD:151347177, RGD:151232292, RGD:151232291, RGD:151232290 NCBI chr  X:34,179,279...34,201,989
Ensembl chr  X:34,179,311...34,201,986 		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 3:188,150,100...188,194,823 		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 4:77,624,223...77,687,183 		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 3:162,273,828...162,341,742 		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 chr19:40,213,239...40,219,236 		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 1:88,118,891...88,139,120 		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 1:88,160,988...88,175,102 		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 4:77,624,223...77,687,183 		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 chr12:12,659,946...12,735,581 		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 1:104,749,983...104,757,038 		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:17,201,633...17,209,459 		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 chr17:41,841,252...41,851,208 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO
ISS 		idiopathic myelofibrosis, OMIM:254450
CTD Direct Evidence: marker/mechanism 		MouseDO
CTD
OMIM
RGD		 PMID:15781101 PMID:15858187 PMID:16951397 PMID:19154659 PMID:19287382 More... RGD:1627655, RGD:10449377 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		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 8:54,013,547...54,089,317 		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: Primary myelofibrosis
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971404 More... RGD:10449004 NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:137,259,288...137,272,177 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISS OMIM:254450 MouseDO NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:17,759,309...17,792,547 		JBrowse link
G Ncor2 nuclear receptor co-repressor 2 ISS OMIM:254450 MouseDO NCBI chr12:37,127,736...37,289,612
Ensembl chr12:37,127,686...37,289,612 		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 chr12:40,392,633...40,414,335 		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 3:166,511,985...166,559,462 		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 1:90,324,046...90,340,899 		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 chr10:54,798,851...54,810,299 		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 4:126,239,354...126,269,702
Ensembl chr 4:126,239,902...126,266,904 		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 chr17:86,243,491...86,250,024 		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 1:104,741,487...104,741,571 		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 3:35,377,391...35,480,846 		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 chr20:13,468,732...13,596,333 		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 chr12:21,919,940...21,960,154 		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 1:88,118,891...88,139,120 		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 chr14:2,187,286...2,196,730 		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 3:32,338,214...32,350,916 		JBrowse link
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 chr17:70,970,900...71,048,438 		JBrowse link
G Atg2b autophagy related 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26280900 NCBI chr 6:130,286,979...130,357,109
Ensembl chr 6:130,286,986...130,357,109 		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 chr20:13,468,732...13,596,333 		JBrowse link
G Calr calreticulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr19:40,213,367...40,218,262
Ensembl chr19:40,213,239...40,219,236 		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 8:53,384,656...53,468,067 		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 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 6:32,512,070...32,614,970 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:17420284 RGD:5131859 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,736,838...26,740,843 		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 4:168,580,138...168,819,802 		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 4:77,624,223...77,687,183 		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 2:212,511,680...212,523,369 		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 chr16:73,194,631...73,249,855 		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 4:181,222,323...181,243,322 		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 chr12:12,659,946...12,735,581 		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 chr14:2,187,286...2,196,730 		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 3:32,338,214...32,350,916 		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 8:117,905,280...117,906,581 		JBrowse link
G Gskip GSK3B interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26280900 NCBI chr 6:130,357,241...130,373,221
Ensembl chr 6:130,370,042...130,373,873 		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 3:38,453,041...38,458,790 		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 1:130,959,997...131,248,664 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:20585039 RGD:11530030 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,930,471...33,948,730 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:65,699,284...65,721,062 		JBrowse link
G Jak2 Janus kinase 2 severity
no_association 		ISO DNA:SNPs:introns: (rs12343867, rs10974944) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.V617F (human)
DNA:SNP:intron: (rs12342421) (human) 		CTD
RGD		 PMID:22087750 PMID:29047144 PMID:35568132 PMID:23845539 PMID:15858187 More... RGD:10449376, RGD:10449393, RGD:10449376 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		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
Ensembl chr 4:179,919,802...179,949,320 		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 2:114,837,840...115,393,038 		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 5:137,259,288...137,272,177 		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 5:163,748,321...163,768,105 		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 chr10:18,245,740...18,256,024
Ensembl chr  X:18,245,740...18,256,024 		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 chr19:52,205,314...52,220,260 		JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 ISO RGD PMID:12351651 RGD:1331842 NCBI chr17:31,114,825...31,144,062
Ensembl chr17:31,114,529...31,143,662 		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 2:193,271,430...193,278,543 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO RGD PMID:15784726 RGD:11251691 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:45,329,044...45,564,925 		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 1:31,466,056...31,488,111 		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 chr10:54,798,851...54,810,299 		JBrowse link
G Zmym2 zinc finger MYM-type containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22875613 NCBI chr15:35,151,356...35,224,528
Ensembl chr15:35,127,994...35,224,941 		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 chr18:56,770,348...56,809,233 		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 3:162,273,828...162,341,742 		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 5:143,583,213...143,602,411 		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 chr12:25,743,733...26,062,497 		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 chr17:9,108,074...9,113,561 		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 4:168,580,138...168,819,802 		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 chr13:94,601,167...94,696,179 		JBrowse link
G Jak2 Janus kinase 2 ISS MouseDO NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		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 chr10:64,804,266...65,034,946 		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 3:29,676,171...29,721,613 		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 chr14:33,360,028...33,408,516 		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 chr18:56,770,348...56,809,233 		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 1:240,043,707...240,110,330 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable | ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to ClinVar PMID:25741868 PMID:28492532 PMID:35101336 NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,928,685...9,953,044 		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 2:224,662,654...224,746,186 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus1 pseudouridine synthase 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 		CTD
ClinVar
MouseDO		 PMID:17056637 PMID:19731322 PMID:25058219 PMID:25741868 PMID:26556812 More... NCBI chr12:51,539,659...51,548,975
Ensembl chr12:51,540,212...51,548,973 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:98,136,530...98,142,320
Ensembl chr11:98,115,386...98,142,668 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition OMIM
ClinVar		 PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 More... NCBI chr12:51,539,659...51,548,975
Ensembl chr12:51,540,212...51,548,973 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 | ClinVar Annotator: match by term: YARS2-related condition OMIM
ClinVar		 PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 More... NCBI chr11:98,136,530...98,142,320
Ensembl chr11:98,115,386...98,142,668 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584 		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 MUTATION-ASSOCIATED SYNDROME | ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with 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 8:53,384,656...53,468,067 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: CBL SYNDROME ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:14991917 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased processing:erythrocyte RGD PMID:6915939 RGD:11040769 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G C5 complement C5 ISO ClinVar Annotator: match by term: Eculizumab, poor response to OMIM
ClinVar		 PMID:7730648 PMID:19414197 PMID:23371790 PMID:24521109 PMID:25534848 More... NCBI chr 3:38,668,174...38,759,468
Ensembl chr 3:38,668,174...38,759,468 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human)
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More... RGD:11087560 NCBI chr  X:33,672,832...33,687,747
Ensembl chr  X:33,674,923...33,687,636 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO CTD Direct Evidence: marker/mechanism CTD PMID:25417052 NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 OMIM
ClinVar		 PMID:2915993 PMID:24706016 PMID:25741868 PMID:28492532 PMID:29159939 More... NCBI chr  X:33,672,832...33,687,747
Ensembl chr  X:33,674,923...33,687,636 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 ClinVar PMID:25741868 NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268 		JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2 OMIM
ClinVar		 PMID:23733340 PMID:25741868 PMID:28492532 NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268 		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 3:174,209,719...174,224,847 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		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 8:62,727,291...62,828,629 		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 3:161,745,540...161,764,907
Ensembl chr 1:161,745,540...161,764,907 		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 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 7:10,467,877...10,469,725 		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 8:28,765,746...28,770,322 		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 chr16:65,185,574...65,228,394 		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 2:198,338,008...198,343,569 		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 chr10:15,828,377...15,829,141 		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 1:167,630,245...167,663,873 		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 chr17:41,841,252...41,851,208 		JBrowse link
G Jak2 Janus kinase 2 ISO
ISS 		OMIM:263300
CTD Direct Evidence: marker/mechanism 		MouseDO
CTD
OMIM
RGD		 PMID:15781101 PMID:15793561 PMID:15858187 PMID:16484586 PMID:17267906 More... RGD:1627655 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		JBrowse link
Primary Lymphedema with Myelodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar
OMIM		 PMID:453969 PMID:2543925 PMID:4508672 PMID:8701948 PMID:9536098 More... NCBI chr 4:122,211,501...122,225,058
Ensembl chr 4:122,211,829...122,225,055 		JBrowse link
G Txnrd3 thioredoxin reductase 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 4:123,629,768...123,669,713
Ensembl chr 4:123,648,750...123,668,552 		JBrowse link
Refractory Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat-containing 5 ISO RGD PMID:18426652 RGD:11038658 NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,572,080...103,582,155 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum: RGD PMID:10214861 RGD:11049479 NCBI chr 1:104,751,518...104,756,925
Ensembl chr 1:104,749,983...104,757,038 		JBrowse link
G Hfe homeostatic iron regulator no_association ISO associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)
associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human) 		RGD PMID:17654685 PMID:17654685 RGD:10755539, RGD:10755539 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Tcn2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chr14:83,036,935...83,052,187
Ensembl chr14:83,036,935...83,051,552 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:18426652 RGD:11038658 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10870480 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Ybx1 Y box binding protein 1 ISO RGD PMID:14604279 RGD:1580637 NCBI chr 5:138,167,444...138,188,155
Ensembl chr 5:138,167,444...138,184,188 		JBrowse link
Refractory Anemia with Excess of Blasts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat-containing 5 ISO RGD PMID:18426652 RGD:11038658 NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,572,080...103,582,155 		JBrowse link
G C3 complement C3 disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Cfb complement factor B disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:18426652 RGD:11038658 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 disease_progression ISO RGD PMID:25200248 RGD:11038682 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:224,662,654...224,746,186 		JBrowse link
sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16892088 PMID:18637800 PMID:18398482 RGD:11038732 NCBI chr  X:73,361,296...73,502,464
Ensembl chr  X:73,361,310...73,502,547 		JBrowse link
G Alad aminolevulinate dehydratase ISO protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:80,977,562...80,988,041 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 susceptibility ISO DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16716198 PMID:16892088 PMID:7949148 RGD:1599037 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:22,890,689...22,914,043 		JBrowse link
G Calr calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chr19:40,213,367...40,218,262
Ensembl chr19:40,213,239...40,219,236 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chr16:18,838,436...18,842,022
Ensembl chr16:18,838,436...18,842,022 		JBrowse link
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chr 6:129,752,902...129,763,278
Ensembl chr 6:129,752,840...129,763,278 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,804,774...26,828,398 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia ClinVar PMID:9389715 PMID:32906214 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,309...6,853 		JBrowse link
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:51,539,659...51,548,975
Ensembl chr12:51,540,212...51,548,973 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chr 8:128,713,180...128,725,968
Ensembl chr 8:128,713,131...128,725,966 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318 		JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 onset ISO ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human) 		OMIM
ClinVar
CTD
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More... RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:22,890,689...22,914,043 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:128,713,180...128,725,968
Ensembl chr 8:128,713,131...128,725,966 		JBrowse link
sideroblastic anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hscb HscB mitochondrial iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 5 OMIM
ClinVar		 PMID:25741868 PMID:32634119 NCBI chr12:51,481,318...51,491,689
Ensembl chr12:51,481,326...51,501,507 		JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay OMIM
ClinVar		 PMID:2649490 PMID:3333257 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 4:141,236,937...141,259,700
Ensembl chr 4:141,236,979...141,259,698 		JBrowse link
splenic marginal zone lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO protein:decreased expression:blood, B cell (human) RGD PMID:10329919 RGD:11531139 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,739,137...91,742,405 		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:11133753 PMID:14764528 PMID:15269348 PMID:16199547 More... NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:137,259,288...137,272,177 		JBrowse link
Thrombocythemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak2 Janus kinase 2 ISO OMIM NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		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 chr20:3,761,832...3,765,679
Ensembl chr20:3,762,182...3,765,679 		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 chr19:40,213,239...40,219,236 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:16244771 RGD:1598473 NCBI chr15:56,967,128...57,015,964
Ensembl chr15:56,966,839...57,015,962 		JBrowse link
G Epor erythropoietin receptor ISO RGD PMID:8400289 RGD:11041647 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:28,765,746...28,770,322 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:2265245 RGD:10450885 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		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 1:236,408,662...236,468,762 		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 5:137,259,288...137,272,177 		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 chr12:40,392,633...40,414,335 		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 chr11:93,686,834...93,693,320 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:17,201,633...17,209,459 		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 chr11:45,329,044...45,564,925 		JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human) 		ClinVar
CTD
OMIM
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More... RGD:1598600, RGD:11038735, RGD:11038734 NCBI chr  X:73,361,296...73,502,464
Ensembl chr  X:73,361,310...73,502,547 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of cellular proliferation 5586
      cancer 4230
        organ system cancer 3954
          hematologic cancer 896
            bone marrow cancer 368
              myelodysplastic syndrome + 120
              myeloid neoplasm + 300
              splenic marginal zone lymphoma 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Hemic and Lymphatic Diseases 1951
        hematopoietic system disease 1590
          Hematologic Neoplasms 896
            Bone Marrow Neoplasms 368
              bone marrow cancer 368
                myelodysplastic syndrome + 120
                myeloid neoplasm + 300
                splenic marginal zone lymphoma 1
paths to the root