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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 Neoplasms
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Accession:DOID:9002641 term browser browse the term
Definition:Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic.
Synonyms:exact_synonym: bone marrow neoplasm;   bone marrow tumor
 primary_id: MESH:D019046
 alt_id: RDO:0007250

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Bone Marrow Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20026017 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:24761810 RGD:11073734 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
Acute Erythroleukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx41 DEAD-box helicase 41 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chrNW_004624733:12,571,208...12,576,721
Ensembl chrNW_004624733:12,570,402...12,578,019 		JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chrNW_004624760:3,446,028...3,454,818
Ensembl chrNW_004624760:3,446,028...3,454,818 		JBrowse link
G Hoxb9 homeobox B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chrNW_004624795:5,118,483...5,123,294
Ensembl chrNW_004624795:5,118,493...5,123,270 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077 		JBrowse link
G Npm1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chrNW_004624733:18,645,269...18,655,073 JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chrNW_004624817:5,125,658...5,245,453
Ensembl chrNW_004624817:5,123,977...5,245,286 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		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 chrNW_004625024:32,237...60,983
Ensembl chrNW_004625024:32,348...63,242 		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 chrNW_004624747:20,407,190...20,438,605
Ensembl chrNW_004624747:20,403,717...20,438,690 		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 chrNW_004624741:188,985...258,065
Ensembl chrNW_004624741:188,745...250,142 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO RGD PMID:15050920 RGD:11352668 NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870 		JBrowse link
G Mfsd11 major facilitator superfamily domain containing 11 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chrNW_004624801:6,578,621...6,609,740
Ensembl chrNW_004624801:6,574,191...6,609,292 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222956 NCBI chrNW_004624778:8,444,681...8,800,595
Ensembl chrNW_004624778:8,465,462...8,800,815 		JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chrNW_004624801:6,575,322...6,578,429
Ensembl chrNW_004624801:6,575,325...6,578,468 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia | ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar PMID:22905207 PMID:28492532 NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		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 chrNW_004624743:31,324,085...31,345,681
Ensembl chrNW_004624743:31,324,085...31,345,695 		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 chrNW_004624734:7,986,999...7,995,604
Ensembl chrNW_004624734:7,987,116...7,995,220 		JBrowse link
G Slc25a38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive OMIM
ClinVar		 PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chrNW_004624730:78,818,069...78,832,091 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 chrNW_004624734:7,986,999...7,995,604
Ensembl chrNW_004624734:7,987,116...7,995,220 		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 chrNW_004624752:149,248...153,625
Ensembl chrNW_004624752:149,187...153,746 		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 chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21570118 NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:12740446 RGD:734951 NCBI chrNW_004624734:36,742,913...36,862,993
Ensembl chrNW_004624734:36,759,104...36,825,295 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Tcn2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chrNW_004624747:6,970,707...6,987,946
Ensembl chrNW_004624747:6,971,289...6,987,440 		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 chrNW_004624761:12,917,855...12,949,423
Ensembl chrNW_004624761:12,917,855...12,949,457 		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 chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491 		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 chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841 		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 chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar NCBI chrNW_004624772:10,358,554...10,369,371 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 chrNW_004624889:2,796,351...2,835,592 JBrowse link
chronic myeloid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004624737:11,593,701...11,686,790
Ensembl chrNW_004624737:11,593,864...11,688,460 		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
DNA:missense mutations: :multiple		 OMIM
ClinVar
RGD		 PMID:3021820 PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 More... RGD:11038807 RGD:11038814 RGD:1598673 NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491 		JBrowse link
G Ace angiotensin I converting enzyme ISO RGD PMID:19761684 RGD:11039056 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Agt angiotensinogen ISO RGD PMID:19761684 RGD:11039056 NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160 NCBI chrNW_004624734:507,880...525,295
Ensembl chrNW_004624734:509,368...525,295 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: therapeutic CTD PMID:19503090 PMID:19823023 NCBI chrNW_004624966:168,244...220,430
Ensembl chrNW_004624966:168,250...220,522 		JBrowse link
G Bcl2l1 BCL2 like 1 ISO RGD PMID:20728382 RGD:11353850 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase treatment
disease_progression
susceptibility		 ISO BCR/ABL fusion
DNA:translocations:cds:
DNA:methylation: :
DNA:gene fusion		 OMIM
RGD		 PMID:2683759 PMID:3101769 PMID:7683349 PMID:12613514 RGD:11038776 RGD:11038783 RGD:1600510 RGD:41404631 NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131 		JBrowse link
G Birc5 baculoviral IAP repeat containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:16254145 NCBI chrNW_004624801:7,727,084...7,735,946
Ensembl chrNW_004624801:7,727,093...7,735,940 		JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chrNW_004624766:5,295,120...5,391,645
Ensembl chrNW_004624766:5,317,635...5,391,645 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chrNW_004624868:5,110,602...5,131,167
Ensembl chrNW_004624868:5,109,846...5,116,949 		JBrowse link
G Casp6 caspase 6 treatment ISO human cells in mouse model RGD PMID:31952546 RGD:151667904 NCBI chrNW_004624830:170,392...179,883
Ensembl chrNW_004624830:171,427...184,814 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, dendritic cell (human) RGD PMID:16527350 RGD:11520794 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		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 chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114 		JBrowse link
G Chordc1 cysteine and histidine rich domain containing 1 ISO OMIM:608232 MouseDO NCBI chrNW_004624845:226,022...244,636
Ensembl chrNW_004624845:225,718...244,636 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160 NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168 		JBrowse link
G Cry1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chrNW_004624750:2,465,999...2,529,251 JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chrNW_004624767:2,622,786...2,652,663
Ensembl chrNW_004624767:2,621,311...2,653,071 		JBrowse link
G Dnmt1 DNA methyltransferase 1 disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chrNW_004624828:2,316,042...2,358,866
Ensembl chrNW_004624828:2,315,251...2,358,711 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785 		JBrowse link
G E2f1 E2F transcription factor 1 ISO mRNA:increased expression:blood RGD PMID:26460262 RGD:13674165 NCBI chrNW_004624842:5,602,432...5,612,951
Ensembl chrNW_004624842:5,602,432...5,612,951 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:polymorphism: :p.K751Q (human)		 RGD PMID:24955348 PMID:25311495 RGD:11060463 RGD:11252188 NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		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 chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		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 chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Faslg Fas ligand susceptibility ISO DNA:polymorphism:promoter: -844 T>C(human) RGD PMID:26563376 RGD:11049146 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:8632671 RGD:11344957 NCBI chrNW_004624826:23,930...34,735 JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:increased expression:peripheral blood (human) RGD PMID:14562121 RGD:36947884 NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Gab2 GRB2 associated binding protein 2 disease_progression ISO protein:increased expression:bone marrow RGD PMID:22858987 RGD:13699433 NCBI chrNW_004624863:1,216,664...1,410,934
Ensembl chrNW_004624863:1,219,866...1,281,847 		JBrowse link
G Gpx1 glutathione peroxidase 1 no_association ISO DNA:polymorphism: :p.P198L (human) RGD PMID:25436036 RGD:11352762 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO rat gene in a mouse model RGD PMID:19861684 RGD:9685380 NCBI chrNW_004624730:63,563,848...63,566,303
Ensembl chrNW_004624730:63,563,754...63,566,781 		JBrowse link
G Hmmr hyaluronan mediated motility receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chrNW_004624733:26,319,635...26,351,576
Ensembl chrNW_004624733:26,319,678...26,351,234 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23777986 NCBI chrNW_004624760:9,986,529...9,991,261
Ensembl chrNW_004624760:9,986,656...9,995,252 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:20305143 RGD:11049154 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il1b interleukin 1 beta severity ISO RGD PMID:7949186 RGD:10450889 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO RGD PMID:7949186 RGD:10450889 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphism, haplotype RGD PMID:17893434 RGD:11041777 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G LOC101707509 cytochrome P450 1A1 treatment ISO DNA:polymorphism:cds:4889A>G(p.I462V)(human) RGD PMID:26464823 RGD:11352729 NCBI chrNW_004627988:7...1,323 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: therapeutic CTD PMID:16818652 NCBI chrNW_004624754:21,528,121...21,598,064
Ensembl chrNW_004624754:21,527,333...21,597,733 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:17156840 RGD:10449408 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Ncstn nicastrin ISO OMIM:608232 MouseDO NCBI chrNW_004624794:908,227...923,474
Ensembl chrNW_004624794:905,857...924,003 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:SNP: :609C>T (human) RGD PMID:16235982 RGD:10769357 NCBI chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:serum (human) RGD PMID:16521495 RGD:11552593 NCBI chrNW_004624870:33,293...122,536 JBrowse link
G Per1 period circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chrNW_004624786:10,706,495...10,722,110
Ensembl chrNW_004624786:10,707,075...10,719,859 		JBrowse link
G Per2 period circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chrNW_004624847:3,359,174...3,399,584
Ensembl chrNW_004624847:3,361,170...3,390,405 		JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chrNW_004624818:3,959,639...4,007,739
Ensembl chrNW_004624818:3,967,333...4,007,739 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO mRNA:increased expression:mononuclear cell (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17157168 PMID:20838376 RGD:11535035 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Sf3b1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:25741868 NCBI chrNW_004624889:2,796,351...2,835,592 JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO OMIM:608232 MouseDO NCBI chrNW_004624747:20,729,142...20,759,631
Ensembl chrNW_004624747:20,730,751...20,759,625 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO OMIM:608232 MouseDO NCBI chrNW_004624767:20,745,125...20,757,243
Ensembl chrNW_004624767:20,745,168...20,757,219 		JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:decreased expression:blood RGD PMID:29951173 RGD:13782079 NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:15068898 PMID:17157168 RGD:11038663 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO protein:increased expression:serum RGD PMID:29951173 RGD:13782079 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Usp15 ubiquitin specific peptidase 15 ISO mRNA, protein:decreased expression:PBMC (human) RGD PMID:31952546 RGD:151667904 NCBI chrNW_004624802:5,559,107...5,682,338
Ensembl chrNW_004624802:5,560,574...5,682,300 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNP,haplotype: :(rs6999470),(rs833061)(human) RGD PMID:19141860 RGD:13432135 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:cds :p.R194W(human) RGD PMID:26250462 RGD:11081180 NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266 		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 chrNW_004624741:188,985...258,065
Ensembl chrNW_004624741:188,745...250,142 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO DNA:altered methylation:5'UTR: RGD PMID:12750705 RGD:11252180 NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440 		JBrowse link
G Csf3r colony stimulating factor 3 receptor disease_progression ISO DNA:mutations:multiples: RGD PMID:23774674 RGD:10450469 NCBI chrNW_004624764:19,356,848...19,396,209
Ensembl chrNW_004624764:19,356,361...19,367,860 		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 chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Kdm6a lysine demethylase 6A ISO MouseDO NCBI chrNW_004624887:1,065,173...1,279,660
Ensembl chrNW_004624887:1,065,883...1,279,186 		JBrowse link
G Nras NRAS proto-oncogene, GTPase onset ISO RGD PMID:26082490 RGD:11535058 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO DNA:missense mutations, nonsense mutations, splice-site mutations:multiple RGD PMID:20693430 RGD:11038679 NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		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:23604229 PMID:24081659 RGD:10450482 RGD:10450483 NCBI chrNW_004624764:19,356,848...19,396,209
Ensembl chrNW_004624764:19,356,361...19,367,860 		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 chrNW_004624738:9,318,213...9,340,765
Ensembl chrNW_004624738:9,318,232...9,340,925 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004624746:14,254,811...14,268,034
Ensembl chrNW_004624746:14,254,193...14,268,034 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004624731:761,235...780,355
Ensembl chrNW_004624731:761,210...779,321 		JBrowse link
essential thrombocythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg2b autophagy related 2B ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chrNW_004624734:7,015,356...7,097,392
Ensembl chrNW_004624734:7,015,672...7,096,348 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chrNW_004624734:8,545,707...8,549,846
Ensembl chrNW_004624734:8,548,356...8,549,414 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chrNW_004624734:8,513,601...8,538,838
Ensembl chrNW_004624734:8,513,814...8,539,036 		JBrowse link
G Calr calreticulin severity ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:24325356 PMID:24325359 PMID:24496303 PMID:25741868 RGD:11352751 NCBI chrNW_004624901:511,295...515,208
Ensembl chrNW_004624901:511,052...516,757 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22196954 RGD:11344979 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G CUNH14orf132 chromosome unknown C14orf132 homolog ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chrNW_004624734:8,387,058...8,421,241
Ensembl chrNW_004624734:8,387,078...8,416,295 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145 		JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chrNW_004624734:7,003,240...7,015,215
Ensembl chrNW_004624734:7,002,240...7,015,194 		JBrowse link
G Jak2 Janus kinase 2 severity ISO CTD Direct Evidence: marker/mechanism
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521
DNA:mutation: :p.V617F (human)		 CTD
MouseDO
RGD		 PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More... RGD:10449178 NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		JBrowse link
G LOC101715199 neutrophil elastase ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chrNW_004624828:7,720,020...7,722,842 JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:15269348 More... NCBI chrNW_004624892:2,656,260...2,671,455
Ensembl chrNW_004624892:2,656,260...2,669,946 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 MouseDO NCBI chrNW_004624886:2,455,704...2,489,593 JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chrNW_004624740:26,172,808...26,191,557
Ensembl chrNW_004624740:26,169,064...26,188,866 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 OMIM
ClinVar		 PMID:15705783 PMID:20404132 PMID:21990094 PMID:23812944 PMID:24777453 More... NCBI chrNW_004624747:20,729,142...20,759,631
Ensembl chrNW_004624747:20,730,751...20,759,625 		JBrowse link
G Tcl1a TCL1 family AKT coactivator A ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chrNW_004624734:8,111,655...8,116,084 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocythemia 1 OMIM
ClinVar		 PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:16199547 More... NCBI chrNW_004624730:72,210,880...72,218,615
Ensembl chrNW_004624730:72,212,423...72,219,485 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chrNW_004624857:3,606,573...3,625,991
Ensembl chrNW_004624857:3,606,431...3,627,063 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chrNW_004624860:2,843,268...2,973,888
Ensembl chrNW_004624860:2,858,088...2,973,052 		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 ISO OMIM:600080 MouseDO NCBI chrNW_004624746:2,272,385...2,290,400
Ensembl chrNW_004624746:2,272,389...2,290,455 		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 chrNW_004624893:595,948...602,980
Ensembl chrNW_004624893:595,967...602,979 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Familial myelofibrosis ClinVar PMID:25741868 NCBI chrNW_004624747:20,729,142...20,759,631
Ensembl chrNW_004624747:20,730,751...20,759,625 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23599270 NCBI chrNW_004624772:17,817,958...17,885,107
Ensembl chrNW_004624772:17,818,039...17,889,228 		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 OMIM
ClinVar		 PMID:8702713 PMID:17203301 PMID:18264100 PMID:19114962 PMID:22735388 More... NCBI chrNW_004624765:20,145,769...20,314,992
Ensembl chrNW_004624765:20,146,138...20,315,797 		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:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chrNW_004624730:75,228,638...75,335,045
Ensembl chrNW_004624730:75,228,316...75,335,052 		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 chrNW_004624816:1,345,020...1,389,615
Ensembl chrNW_004624816:1,345,006...1,384,299 		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 chrNW_004624785:6,900,252...6,987,712
Ensembl chrNW_004624785:6,897,561...6,988,287 		JBrowse link
G Arhgap26 Rho GTPase activating protein 26 ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:10908648 NCBI chrNW_004624774:1,978,049...2,443,632
Ensembl chrNW_004624774:1,977,963...2,442,410 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia ClinVar PMID:20880116 PMID:21576631 PMID:21881046 PMID:22031865 PMID:22058207 More... NCBI chrNW_004624741:188,985...258,065
Ensembl chrNW_004624741:188,745...250,142 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9389708 PMID:22315502 RGD:10449526 NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO OMIM:607785 MouseDO NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066 		JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chrNW_004624961:147,685...155,614
Ensembl chrNW_004624961:143,358...154,003 		JBrowse link
G Jak3 Janus kinase 3 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:23832011 RGD:11069125 NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia ClinVar PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 PMID:12720172 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 PMID:1783401 More... NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia ClinVar PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More... NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457648 NCBI chrNW_004624752:10,589,017...10,620,652
Ensembl chrNW_004624752:10,589,017...10,601,661 		JBrowse link
G Rras RAS related ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chrNW_004624832:4,632,812...4,637,938
Ensembl chrNW_004624832:4,633,326...4,637,938 		JBrowse link
G Rras2 RAS related 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chrNW_004624766:6,179,507...6,244,722
Ensembl chrNW_004624766:6,180,822...6,244,692 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23832011 PMID:26457647 NCBI chrNW_004624778:8,444,681...8,800,595
Ensembl chrNW_004624778:8,465,462...8,800,815 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chrNW_004624747:20,729,142...20,759,631
Ensembl chrNW_004624747:20,730,751...20,759,625 		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 chrNW_004624829:578,380...605,119
Ensembl chrNW_004624829:578,326...604,594 		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 chrNW_004624809:14,181...64,002
Ensembl chrNW_004624809:42,443...66,279 		JBrowse link
multiple myeloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased activity:serum RGD PMID:22345095 RGD:11038914 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17096887 RGD:11035276 NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chrNW_004624849:3,257,460...3,280,870
Ensembl chrNW_004624849:3,257,459...3,280,245 		JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chrNW_004624907:1,752,322...1,755,308 JBrowse link
G Arid4a AT-rich interaction domain 4A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624884:3,360,461...3,434,622 JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G Aurka aurora kinase A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624790:143,818...162,065
Ensembl chrNW_004624790:147,149...161,344 		JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:26619011 NCBI chrNW_004624804:11,514,728...11,521,625 JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624765:1,354,511...1,419,364
Ensembl chrNW_004624765:1,351,273...1,422,587 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Bcl2l1 BCL2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12429644 PMID:14656874 RGD:11353847 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507 		JBrowse link
G Bcl2l10 BCL2 like 10 ISO protein:increased expression:bone marrow : RGD PMID:27455953 RGD:14392808 NCBI chrNW_004624731:8,399,936...8,403,904 JBrowse link
G Bcorl1 BCL6 corepressor like 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624797:9,211,625...9,283,435
Ensembl chrNW_004624797:9,240,209...9,282,020 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chrNW_004624737:14,848,355...14,863,731
Ensembl chrNW_004624737:14,848,350...14,862,965 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 More... NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		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 chrNW_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993 		JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chrNW_004624750:14,526,750...14,529,336
Ensembl chrNW_004624750:14,526,384...14,533,049 		JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA:decreased expression:mononuclear cell: RGD PMID:23948411 RGD:11038794 NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Cbx7 chromobox 7 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.113+3502C>T (human) (rs877529)		 CTD
RGD		 PMID:23955597 RGD:11352716 NCBI chrNW_004624752:9,133,587...9,151,216
Ensembl chrNW_004624752:9,133,569...9,151,934 		JBrowse link
G Ccn1 cellular communication network factor 1 exacerbates ISO mRNA, protein:increased expression:bone marrow (human)
mRNA,protein:increased expression:bone marrow (human)		 RGD PMID:25061178 PMID:28035364 RGD:329845528 RGD:329845546 NCBI chrNW_004624742:11,882,815...11,885,686
Ensembl chrNW_004624742:11,882,907...11,885,667 		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		 RGD
OMIM
ClinVar		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... RGD:11353784 NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191 		JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15755896 RGD:1581171 NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107 		JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:15755896 RGD:1581171 NCBI chrNW_004624754:17,148,108...17,194,626
Ensembl chrNW_004624754:17,148,076...17,194,000 		JBrowse link
G Cd40 CD40 molecule treatment ISO human cells in a mouse model RGD PMID:10866315 RGD:11522720 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		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 chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chrNW_004624807:4,040,639...4,074,631 JBrowse link
G Cd86 CD86 molecule severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:bone marrow, plasma cell (human)		 CTD
RGD		 PMID:16611307 PMID:22705596 RGD:11354971 NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712 		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 chrNW_004624802:10,191,679...10,194,585
Ensembl chrNW_004624802:10,191,014...10,194,275 		JBrowse link
G Cdkn2c cyclin dependent kinase inhibitor 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624859:2,092,622...2,097,628
Ensembl chrNW_004624859:2,091,734...2,097,659 		JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16930142 RGD:4892645 NCBI chrNW_004624807:7,655,777...7,664,484
Ensembl chrNW_004624807:7,655,620...7,662,362 		JBrowse link
G Crbn cereblon ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624773:13,383,697...13,406,892
Ensembl chrNW_004624773:13,384,383...13,407,191 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7540856 PMID:8104070 PMID:8555506 NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7534716 PMID:7540856 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624757:5,895,912...5,953,485 JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624751:27,760,665...27,786,403
Ensembl chrNW_004624751:27,760,776...27,785,613 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Dsg2 desmoglein 2 disease_progression ISO RGD PMID:34245117 RGD:401851080 NCBI chrNW_004624770:1,315,021...1,363,472
Ensembl chrNW_004624770:1,313,916...1,364,153 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624829:4,954,390...4,972,934
Ensembl chrNW_004624829:4,957,809...4,973,220 		JBrowse link
G Eng endoglin severity ISO protein:increased expression:serum: RGD PMID:23576184 RGD:11041181 NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:rs2234922 (human)		 CTD
RGD		 PMID:16949155 PMID:19736056 PMID:24521996 RGD:11252116 RGD:11252121 RGD:11252122 NCBI chrNW_004624835:6,161,930...6,181,016
Ensembl chrNW_004624835:6,162,111...6,168,714 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO DNA:SNP: :rs735482 (human) RGD PMID:21435719 RGD:10450871 NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit sexual_dimorphism
disease_progression		 ISO DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)
DNA:polymorphism: :p.K751Q (rs13181) (human)		 RGD PMID:17131345 PMID:22183071 RGD:11252199 RGD:401827277 NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624907:499,913...506,719
Ensembl chrNW_004624907:499,883...507,629 		JBrowse link
G Faslg Fas ligand disease_progression ISO RGD PMID:16321857 RGD:11049149 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624769:17,801,796...17,924,685
Ensembl chrNW_004624769:17,801,894...17,925,191 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility
disease_progression		 ISO DNA:polymorphism: :rs1801274(human) RGD PMID:17315188 PMID:25850245 RGD:11040778 RGD:11040938 NCBI chrNW_004624826:23,930...34,735 JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Fgg fibrinogen gamma chain treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chrNW_004624858:5,828,334...5,836,382
Ensembl chrNW_004624858:5,827,316...5,838,170 		JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066 		JBrowse link
G Flt3lg fms related receptor tyrosine kinase 3 ligand disease_progression ISO protein:increased expression:serum: RGD PMID:26521986 RGD:11075232 NCBI chrNW_004624832:4,733,820...4,739,214 JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA:increased expression:bone marrow RGD PMID:34274946 RGD:329901767 NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8599825 RGD:11352777 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Gpx3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993 		JBrowse link
G H1-4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624756:771,688...772,950
Ensembl chrNW_004624756:772,241...772,903 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624847:3,846,196...4,101,537
Ensembl chrNW_004624847:3,845,858...4,101,487 		JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation, haplotype:cds:p.C282Y (human) RGD PMID:10383894 RGD:8694350 NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376 		JBrowse link
G Hk1 hexokinase 1 ISO RGD PMID:19996089 RGD:11353882 NCBI chrNW_004624754:3,594,478...3,656,231
Ensembl chrNW_004624754:3,591,090...3,659,760 		JBrowse link
G Hras HRas proto-oncogene, GTPase 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 chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12855565 NCBI chrNW_004624740:14,940,161...14,941,561
Ensembl chrNW_004624740:14,939,445...14,941,819 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:serum: RGD PMID:7686390 PMID:7834632 RGD:11354981 RGD:11520780 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO protein:increased expression:serum,urine: RGD PMID:29940770 RGD:14985218 NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151 		JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
protein:increased expression:serum		 RGD PMID:11022130 PMID:11307152 RGD:11041888 RGD:11049458 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)		 RGD PMID:1777241 PMID:17926179 PMID:25469832 RGD:11049156 RGD:11051973 RGD:11059513 NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) RGD PMID:17926179 RGD:11051973 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il1rn interleukin 1 receptor antagonist no_association ISO DNA:snp: :11100C>T (human)
DNA:repeats:intron:		 RGD PMID:10848780 PMID:17926179 RGD:11051973 RGD:11522764 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:SNP: :-228120T>C(rs2107356)(human) RGD PMID:17315188 RGD:11040938 NCBI chrNW_004624782:11,981,781...12,008,362 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8520508 PMID:12855565 PMID:19330649 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624759:19,067,933...19,103,007
Ensembl chrNW_004624759:19,067,856...19,098,859 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression
treatment		 ISO CTD Direct Evidence: marker/mechanism
DNA:translocation		 CTD
RGD		 PMID:10557056 PMID:17690696 PMID:18568025 PMID:21707574 RGD:11526161 RGD:11530019 RGD:11530055 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO DNA:hypermethylation RGD PMID:23114132 RGD:329902071 NCBI chrNW_004624746:2,272,385...2,290,400
Ensembl chrNW_004624746:2,272,389...2,290,455 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624909:421,033...455,201
Ensembl chrNW_004624909:420,077...455,309 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053 		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 chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624785:8,356,238...8,405,877
Ensembl chrNW_004624785:8,369,922...8,408,919 		JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis OMIM
ClinVar		 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More... NCBI chrNW_004624793:3,699,394...3,706,591
Ensembl chrNW_004624793:3,699,506...3,706,073 		JBrowse link
G LOC101698338 E3 SUMO-protein ligase RanBP2 ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:19171422 RGD:9835349 NCBI chrNW_004624749:11,862,670...11,923,291
Ensembl chrNW_004624749:11,862,760...11,923,958 		JBrowse link
G LOC101707509 cytochrome P450 1A1 susceptibility ISO DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) RGD PMID:18285692 RGD:11352726 NCBI chrNW_004627988:7...1,323 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 chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911 		JBrowse link
G Maf MAF bZIP transcription factor ISO OMIM:254500 MouseDO NCBI chrNW_004624746:7,653,690...7,672,404 JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chrNW_004624772:18,287,587...18,292,384
Ensembl chrNW_004624772:18,289,509...18,319,033 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M694V(human) RGD PMID:25202401 RGD:11531123 NCBI chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO RGD PMID:11830493 RGD:2317526 NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995 		JBrowse link
G Mettl14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chrNW_004624867:5,508,847...5,533,395
Ensembl chrNW_004624867:5,508,886...5,533,395 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chrNW_004624825:7,513,481...7,527,716
Ensembl chrNW_004624825:7,513,481...7,527,695 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624804:8,796,383...8,957,343
Ensembl chrNW_004624804:8,852,345...8,955,868 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624730:3,802,452...3,818,593
Ensembl chrNW_004624730:3,800,749...3,822,389 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:missense mutations:cds:677C>T, 1298A>C (human) RGD PMID:24839819 RGD:10449397 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:polymorphism: :2756A>G(human) RGD PMID:17655928 RGD:11075095 NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66G>A(human) RGD PMID:17655928 RGD:11075095 NCBI chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:9949172 NCBI chrNW_004624885:2,339,281...2,343,351 JBrowse link
G Ncor2 nuclear receptor corepressor 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624747:23,777,645...23,887,804
Ensembl chrNW_004624747:23,777,325...23,865,804 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO DNA:polymorphism RGD PMID:12377412 PMID:16540234 RGD:2298895 RGD:2298898 NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517 		JBrowse link
G Nono non-POU domain containing octamer binding exacerbates ISO mRNA:increased expression: (human) RGD PMID:32410217 RGD:155900765 NCBI chrNW_004624903:1,562,818...1,583,648
Ensembl chrNW_004624903:1,562,743...1,586,985 		JBrowse link
G Notch2 notch receptor 2 ISO protein:increased expression:bone marrow (human) RGD PMID:14726396 RGD:1580763 NCBI chrNW_004624772:15,572,350...15,726,312
Ensembl chrNW_004624772:15,571,998...15,726,426 		JBrowse link
G Nox1 NADPH oxidase 1 ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chrNW_004624902:1,741,921...1,754,932
Ensembl chrNW_004624902:1,736,704...1,755,504 		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		 RGD
CTD		 PMID:16949155 PMID:18061666 PMID:18156703 RGD:10755419 RGD:10769348 NCBI chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479 		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		 RGD
ClinVar		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... RGD:11535049 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Nuak1 NUAK family kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873845 NCBI chrNW_004624750:3,141,442...3,197,821
Ensembl chrNW_004624750:3,141,441...3,197,514 		JBrowse link
G P2ry8 P2Y receptor family member 8 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624834:686,801...708,251 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21917757 NCBI chrNW_004624807:446,662...478,571
Ensembl chrNW_004624807:446,647...479,069 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624908:1,513,916...1,523,723
Ensembl chrNW_004624908:1,513,969...1,523,295 		JBrowse link
G Pml PML nuclear body scaffold severity ISO protein:increased expression:bone marrow (human) RGD PMID:22906876 RGD:41404686 NCBI chrNW_004624781:464,858...498,146
Ensembl chrNW_004624781:464,658...497,775 		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 chrNW_004624907:2,286,040...2,288,533
Ensembl chrNW_004624907:2,286,050...2,288,242 		JBrowse link
G Pon1 paraoxonase 1 treatment
severity
susceptibility		 ISO protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)		 RGD PMID:15136237 PMID:22348216 PMID:25520116 RGD:10450846 RGD:11040544 RGD:11552578 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO CTD Direct Evidence: marker/mechanism
associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)		 CTD
RGD		 PMID:16179254 PMID:24791872 RGD:11535030 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29158558 NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chrNW_004624754:24,783,528...24,785,397
Ensembl chrNW_004624754:24,783,761...24,785,331 		JBrowse link
G Pthlh parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chrNW_004624778:8,007,358...8,019,538
Ensembl chrNW_004624778:8,008,056...8,019,612 		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 chrNW_004624770:9,026,592...9,100,818
Ensembl chrNW_004624770:9,023,392...9,119,183 		JBrowse link
G Rbp1 retinol binding protein 1 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chrNW_004624730:16,091,863...16,119,591
Ensembl chrNW_004624730:16,091,863...16,119,591 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:28492532 NCBI chrNW_004624735:12,345,326...12,351,783
Ensembl chrNW_004624735:12,345,844...12,351,637 		JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chrNW_004624874:4,234,640...5,359,333
Ensembl chrNW_004624874:4,949,538...5,357,690 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:splice variant RGD PMID:12560229 RGD:6482834 NCBI chrNW_004624745:22,921,180...23,158,250
Ensembl chrNW_004624745:22,921,120...23,157,876 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624760:2,379,809...2,455,749
Ensembl chrNW_004624760:2,380,708...2,456,928 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624842:2,591,016...2,649,746
Ensembl chrNW_004624842:2,591,148...2,647,742 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624942:508,035...641,349
Ensembl chrNW_004624942:507,605...641,585 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624747:20,729,142...20,759,631
Ensembl chrNW_004624747:20,730,751...20,759,625 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15908783 RGD:1581238 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		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 chrNW_004624733:37,348,993...37,369,804
Ensembl chrNW_004624733:37,338,284...37,369,804 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16208410 RGD:1581367 NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624749:29,371,674...29,494,785
Ensembl chrNW_004624749:29,371,682...29,493,031 		JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:21654517 RGD:11062101 NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550 		JBrowse link
G Tgfb1 transforming growth factor beta 1 disease_progression ISO DNA:hypermethylation: :
protein:decreased expression:serum:		 RGD PMID:22560388 PMID:23699600 RGD:11073605 RGD:11073614 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		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 chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593 		JBrowse link
G Tnfrsf17 TNF receptor superfamily member 17 ISO RGD PMID:15692072 RGD:2317306 NCBI chrNW_004624782:6,337,914...6,375,242
Ensembl chrNW_004624782:6,338,087...6,341,090 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522 		JBrowse link
G Tp53 tumor protein p53 disease_progression
treatment		 ISO DNA:polymorphism:cds:p.R72P(human)
DNA:deletion: :
protein:increased expression:nucleus:
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 RGD
ClinVar		 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 More... RGD:11073716 RGD:11073728 RGD:11075073 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624773:13,363,449...13,382,789
Ensembl chrNW_004624773:13,362,983...13,395,086 		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 chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600 		JBrowse link
G Ulk4 unc-51 like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120009 NCBI chrNW_004624730:77,495,705...77,876,547
Ensembl chrNW_004624730:77,495,747...77,875,622 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) RGD PMID:24687381 RGD:11079182 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chrNW_004624738:13,116,317...13,180,935
Ensembl chrNW_004624738:13,115,982...13,181,352 		JBrowse link
G Xpo5 exportin 5 severity ISO DNA:snp:3' utr:c.*659A>C (rs11077) (human) RGD PMID:22539802 RGD:11041735 NCBI chrNW_004624754:16,083,356...16,124,682
Ensembl chrNW_004624754:16,083,407...16,123,407 		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 chrNW_004624734:1,216,641...1,223,860
Ensembl chrNW_004624734:1,217,549...1,223,280 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:17901044 RGD:8698655 NCBI chrNW_004624743:3,299,329...3,549,182
Ensembl chrNW_004624743:3,317,351...3,552,161 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624878:621,214...776,363 JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chrNW_004624741:28,918,466...28,933,593
Ensembl chrNW_004624741:28,917,942...28,933,599 		JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chrNW_004624734:3,846,753...3,875,294
Ensembl chrNW_004624734:3,846,765...3,875,294 		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 chrNW_004624733:40,105,795...40,157,108
Ensembl chrNW_004624733:40,105,806...40,160,221 		JBrowse link
G Arpc1b actin related protein 2/3 complex subunit 1B treatment ISO RGD PMID:22608605 RGD:11046272 NCBI chrNW_004624740:32,805,647...32,821,986
Ensembl chrNW_004624740:32,805,610...32,821,918 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 treatment
disease_progression		 ISO ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome
DNA:mutations:cds:		 OMIM
ClinVar
RGD		 PMID:16199547 PMID:20880116 PMID:21576631 PMID:21706002 PMID:21881046 More... RGD:11038707 RGD:11038769 NCBI chrNW_004624741:188,985...258,065
Ensembl chrNW_004624741:188,745...250,142 		JBrowse link
G Atg7 autophagy related 7 ISO OMIM:614286 MouseDO NCBI chrNW_004624943:231,978...480,933
Ensembl chrNW_004624943:232,618...481,290 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO OMIM:614286 MouseDO NCBI chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515 		JBrowse link
G Bcl2l10 BCL2 like 10 susceptibility
treatment		 ISO DNA:SNP:cds:p.Leu21Arg rs2231292)(human) RGD PMID:21760590 PMID:24047476 RGD:11058140 RGD:14392809 NCBI chrNW_004624731:8,399,936...8,403,904 JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:24571310 NCBI chrNW_004624796:6,277,201...6,282,830
Ensembl chrNW_004624796:6,274,561...6,282,984 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, monocyte (human) RGD PMID:17805323 RGD:11520793 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO DNA:deletion: : RGD PMID:9171997 RGD:10450601 NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B disease_progression
treatment		 ISO DNA:hypermethylation: :
DNA:altered methylation: :
DNA:altered methylation:promoter:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17294728 PMID:17611569 PMID:20658957 PMID:23683424 RGD:11251750 RGD:11252169 RGD:11252195 NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440 		JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14562111 PMID:16105982 RGD:11341680 NCBI chrNW_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989 		JBrowse link
G Crebbp CREB binding protein ISO OMIM:614286 MouseDO NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Csf3r colony stimulating factor 3 receptor disease_progression ISO Protein:decreased expression:CD34++ cell:
DNA:SNP:cds:p.E785K(human)		 RGD PMID:12670333 PMID:15644419 RGD:10450471 RGD:10450504 NCBI chrNW_004624764:19,356,848...19,396,209
Ensembl chrNW_004624764:19,356,361...19,367,860 		JBrowse link
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chrNW_004624743:31,512,481...31,700,340 JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19874806 NCBI chrNW_004624809:9,585,426...9,794,582
Ensembl chrNW_004624809:9,586,225...9,793,208 		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 chrNW_004624733:12,571,208...12,576,721
Ensembl chrNW_004624733:12,570,402...12,578,019 		JBrowse link
G Ddx42 DEAD-box helicase 42 ISO mRNA:decreased expression:bone marrow mononuclear cell (human) RGD PMID:16211284 RGD:9850279 NCBI chrNW_004624849:1,274,453...1,342,078
Ensembl chrNW_004624849:1,274,453...1,341,232 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18575777 NCBI chrNW_004624734:3,363,084...3,372,790
Ensembl chrNW_004624734:3,363,001...3,372,694 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32431489 NCBI chrNW_004624828:2,316,042...2,358,866
Ensembl chrNW_004624828:2,315,251...2,358,711 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha disease_progression ISO DNA:missense mutation:exon:p.R882 (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:		 RGD
CTD		 PMID:21415852 PMID:22066015 PMID:32431489 RGD:11041122 RGD:11041124 NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:32431489 NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785 		JBrowse link
G Egr1 early growth response 1 ISO OMIM:614286 MouseDO NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205 		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 chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602 		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:11075607 RGD:11252197 NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO DNA:deletion: :
DNA:translocation: :		 RGD PMID:9171997 PMID:12203785 PMID:18476590 RGD:10450601 RGD:10450605 RGD:1581019 NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:bone marrow, mononuclear cell (human)
DNA:mutations:multiple (human)		 CTD
RGD		 PMID:20601954 PMID:21125401 PMID:22869879 RGD:10450880 RGD:10450887 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		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 chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:peripheral blood mononuclear cell:
mRNA,protein:increased expression:bone marrow:		 RGD PMID:9557605 PMID:15686130 RGD:11049447 RGD:11049448 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825 		JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa ISO RGD PMID:24264604 RGD:11352253 NCBI chrNW_004624826:51,387...59,117 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 chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066 		JBrowse link
G Gata1 GATA binding protein 1 disease_progression
severity		 ISO CTD Direct Evidence: marker/mechanism
OMIM:614286
mRNA:increased expression:bone marrow		 CTD
MouseDO
RGD		 PMID:12145700 PMID:15572684 PMID:17570514 PMID:28963909 RGD:10450734 RGD:10450752 RGD:10450753 NCBI chrNW_004624893:595,948...602,980
Ensembl chrNW_004624893:595,967...602,979 		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		 RGD
ClinVar
OMIM		 PMID:4508672 PMID:12145700 PMID:20040766 PMID:21242295 PMID:21670465 More... RGD:10450753 NCBI chrNW_004624961:147,685...155,614
Ensembl chrNW_004624961:143,358...154,003 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO mRNA:decreased expression:bone marrow: RGD PMID:18371060 RGD:11040459 NCBI chrNW_004624742:5,260,651...5,271,908
Ensembl chrNW_004624742:5,261,537...5,270,695 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Myelodysplastic syndromes OMIM
ClinVar		 PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433 		JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28963909 NCBI chrNW_004624764:15,510,655...15,552,020
Ensembl chrNW_004624764:15,510,866...15,552,025 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutations:cds:p.H63D, p.C282Y (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12624489 PMID:17001480 RGD:10755559 NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 disease_progression ISO DNA:mutation: : RGD PMID:24936872 RGD:11522722 NCBI chrNW_004624765:7,806,560...7,825,520 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 chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397 		JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:bone marrow RGD PMID:10697556 RGD:10450881 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Myelodysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624775:927,337...991,062
Ensembl chrNW_004624775:924,648...942,354 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:16121636 RGD:10755468 NCBI chrNW_004624849:1,895,378...1,952,755
Ensembl chrNW_004624849:1,895,914...1,952,665 		JBrowse link
G Kmt2e lysine methyltransferase 2E (inactive) ISO RGD PMID:18952892 RGD:9588548 NCBI chrNW_004624739:24,371,415...24,476,245
Ensembl chrNW_004624739:24,372,237...24,476,137 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27992414 NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Lgr6 leucine rich repeat containing G protein-coupled receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32215045 NCBI chrNW_004624807:8,437,923...8,551,913
Ensembl chrNW_004624807:8,437,424...8,552,282 		JBrowse link
G LOC101706296 core histone macro-H2A.1 ISO OMIM:614286 MouseDO NCBI chrNW_004624733:11,650,067...11,714,399
Ensembl chrNW_004624733:11,650,537...11,715,999 		JBrowse link
G Lyl1 LYL1 basic helix-loop-helix family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16094422 NCBI chrNW_004624901:645,263...648,550
Ensembl chrNW_004624901:645,924...649,100 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.M694V,E148Q(human) RGD PMID:22351163 RGD:11531114 NCBI chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G(human) RGD PMID:18774170 RGD:11075096 NCBI chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657 		JBrowse link
G Mybl2 MYB proto-oncogene like 2 ISO OMIM:614286 MouseDO NCBI chrNW_004624790:10,629,771...10,665,187
Ensembl chrNW_004624790:10,630,158...10,664,982 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10914558 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Npm1 nucleophosmin 1 ISO ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia ClinVar PMID:15659725 PMID:20026798 PMID:32581362 NCBI chrNW_004624733:18,645,269...18,655,073 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 chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia RGD
ClinVar		 PMID:15951308 PMID:23708912 PMID:25741868 PMID:28098151 PMID:28492532 More... RGD:11535060 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Plcb1 phospholipase C beta 1 treatment
severity		 ISO mRNA:decreased expression:bone marrow, blood, mononuclear cell (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16820933 PMID:19805378 PMID:21109771 RGD:11535164 RGD:11535956 NCBI chrNW_004624741:9,030,817...9,859,597
Ensembl chrNW_004624741:9,031,204...9,856,556 		JBrowse link
G Pmepa1 prostate transmembrane protein, androgen induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32215045 NCBI chrNW_004624741:24,053,947...24,103,990
Ensembl chrNW_004624741:24,051,566...24,103,997 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO OMIM:614286 MouseDO NCBI chrNW_004624768:16,493,123...16,509,747
Ensembl chrNW_004624768:16,491,555...16,509,900 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO mRNA:increased expression:bone marrow, blood (human) RGD PMID:24763007 RGD:11535028 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Rap1gap RAP1 GTPase activating protein ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:18551404 RGD:9835346 NCBI chrNW_004624764:6,460,230...6,521,693
Ensembl chrNW_004624764:6,460,230...6,506,741 		JBrowse link
G Runx1 RUNX family transcription factor 1 disease_progression ISO DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple RGD PMID:17910630 RGD:11251705 NCBI chrNW_004624745:22,921,180...23,158,250
Ensembl chrNW_004624745:22,921,120...23,157,876 		JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar PMID:28492532 PMID:30046003 NCBI chrNW_004624809:14,181...64,002
Ensembl chrNW_004624809:42,443...66,279 		JBrowse link
G Sf3b1 splicing factor 3b subunit 1 ISO 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
ClinVar		 PMID:21909114 PMID:21995386 PMID:25741868 PMID:28492532 NCBI chrNW_004624889:2,796,351...2,835,592 JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO mRNA:decreased expression:PBMCs (human) RGD PMID:12802501 RGD:1580610 NCBI chrNW_004624733:39,690,958...39,727,503
Ensembl chrNW_004624733:39,698,456...39,808,718 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18283525 NCBI chrNW_004624746:17,857,779...17,948,469
Ensembl chrNW_004624746:17,920,835...17,948,468 		JBrowse link
G Sphk1 sphingosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18283525 NCBI chrNW_004624801:6,253,219...6,257,128 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 chrNW_004624742:25,761,410...25,787,195
Ensembl chrNW_004624742:25,761,410...25,789,972 		JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO DNA:missense mutations:cds:multiple (human)
OMIM:614286		 RGD
MouseDO		 PMID:23280334 RGD:11039052 NCBI chrNW_004624801:6,575,322...6,578,429
Ensembl chrNW_004624801:6,575,325...6,578,468 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:27992414 NCBI chrNW_004624797:2,659,785...2,794,168
Ensembl chrNW_004624797:2,719,508...2,794,379 		JBrowse link
G Tert telomerase reverse transcriptase severity ISO ClinVar Annotator: match by term: Myelodysplasia RGD
ClinVar		 PMID:19270495 PMID:25741868 PMID:28492532 PMID:29463756 PMID:33718801 RGD:11038661 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 severity ISO ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: TET2-related condition
DNA:mutations:multiple		 OMIM
ClinVar
RGD		 PMID:23099237 PMID:24728327 PMID:25741868 PMID:28492532 RGD:10450876 NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		JBrowse link
G Tlr2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28963909 NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833 		JBrowse link
G Tnf tumor necrosis factor disease_progression ISO mRNA:increased expression:bone marrow
protein:increased expression:serum		 RGD PMID:10697556 PMID:15888251 RGD:10450530 RGD:10450881 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tp53 tumor protein p53 no_association
treatment
disease_progression		 ISO DNA:SNP:cds: p.R72P(rs1042522)(human)
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
DNA:mutation: :		 RGD
CTD		 PMID:22668018 PMID:24043769 PMID:24836762 PMID:25412846 PMID:25573287 More... RGD:11057925 RGD:11073714 RGD:11073729 RGD:11073731 RGD:11075071 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158538 NCBI chrNW_004624745:27,647,672...27,660,599
Ensembl chrNW_004624745:27,647,597...27,660,809 		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 RGD:11075607 NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO RGD PMID:15705784 RGD:1580640 NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953 		JBrowse link
G Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:multiple (human)
DNA:missense mutations:multiple (human)		 CTD
RGD		 PMID:22343920 PMID:25586593 PMID:27992414 PMID:28220884 PMID:28942350 RGD:151232290 RGD:151232291 RGD:151232292 RGD:151347177 NCBI chrNW_004624829:578,380...605,119
Ensembl chrNW_004624829:578,326...604,594 		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 ISO MouseDO NCBI chrNW_004624741:28,646,938...28,700,683 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 chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		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:mutations: :
DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human)		 RGD PMID:21712540 PMID:23619563 RGD:11038705 RGD:11038768 NCBI chrNW_004624741:188,985...258,065
Ensembl chrNW_004624741:188,745...250,142 		JBrowse link
G Atg2b autophagy related 2B ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chrNW_004624734:7,015,356...7,097,392
Ensembl chrNW_004624734:7,015,672...7,096,348 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chrNW_004624734:8,545,707...8,549,846
Ensembl chrNW_004624734:8,548,356...8,549,414 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chrNW_004624734:8,513,601...8,538,838
Ensembl chrNW_004624734:8,513,814...8,539,036 		JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: CALR-related condition | ClinVar Annotator: match by term: Primary myelofibrosis OMIM
ClinVar		 PMID:24325356 PMID:24325359 PMID:25741868 PMID:28492532 NCBI chrNW_004624901:511,295...515,208
Ensembl chrNW_004624901:511,052...516,757 		JBrowse link
G CUNH14orf132 chromosome unknown C14orf132 homolog ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chrNW_004624734:8,387,058...8,421,241
Ensembl chrNW_004624734:8,387,078...8,416,295 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23571153 RGD:11252175 NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		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 chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		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		 RGD
CTD		 PMID:20601953 PMID:21921040 RGD:10450870 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:multiple: RGD PMID:21487043 RGD:11049484 NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066 		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 chrNW_004624832:4,733,820...4,739,214 JBrowse link
G Gata1 GATA binding protein 1 ISO OMIM:254450 RGD
MouseDO		 PMID:16127162 RGD:10450748 NCBI chrNW_004624893:595,948...602,980
Ensembl chrNW_004624893:595,967...602,979 		JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chrNW_004624734:7,003,240...7,015,215
Ensembl chrNW_004624734:7,002,240...7,015,194 		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 RGD:10755491 NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376 		JBrowse link
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chrNW_004624736:9,838,781...9,848,514 JBrowse link
G Jak2 Janus kinase 2 treatment ISO ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis OMIM
ClinVar
RGD		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... RGD:10449377 NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		JBrowse link
G Kmt2a lysine methyltransferase 2A exacerbates ISO DNA:mutations:multiple (human) RGD PMID:35731275 RGD:156420157 NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Myelofibrosis with myeloid metaplasia | ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis OMIM
ClinVar		 PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 More... NCBI chrNW_004624892:2,656,260...2,671,455
Ensembl chrNW_004624892:2,656,260...2,669,946 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO OMIM:254450 MouseDO NCBI chrNW_004624886:2,455,704...2,489,593 JBrowse link
G Ncor2 nuclear receptor corepressor 2 ISO OMIM:254450 MouseDO NCBI chrNW_004624747:23,777,645...23,887,804
Ensembl chrNW_004624747:23,777,325...23,865,804 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis OMIM
ClinVar		 PMID:15705783 PMID:20404132 PMID:21990094 PMID:24777453 PMID:25741868 More... NCBI chrNW_004624747:20,729,142...20,759,631
Ensembl chrNW_004624747:20,730,751...20,759,625 		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 chrNW_004624842:2,212,561...2,260,514
Ensembl chrNW_004624842:2,211,020...2,230,132 		JBrowse link
G Tcl1a TCL1 family AKT coactivator A ISO ClinVar Annotator: match by term: Primary myelofibrosis ClinVar NCBI chrNW_004624734:8,111,655...8,116,084 JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO mRNA:increased expression:spleen,bone marrow:
protein:increased expression:plasma,bone marrow:		 RGD PMID:23462118 RGD:11073609 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO associated with Myelodysplastic Syndromes; RGD PMID:26123119 RGD:11073713 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		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 chrNW_004624872:915,303...939,580
Ensembl chrNW_004624872:915,300...938,702 		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 chrNW_004624796:6,277,201...6,282,830
Ensembl chrNW_004624796:6,274,561...6,282,984 		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:11559572 PMID:19344397 RGD:11038809 RGD:11038811 NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase disease_progression ISO RGD PMID:19344397 RGD:11038809 NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO DNA:SNP: :rs11615 (human) RGD PMID:22821389 RGD:11252165 NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		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 chrNW_004624742:5,260,651...5,271,908
Ensembl chrNW_004624742:5,261,537...5,270,695 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chrNW_004624760:3,446,028...3,454,818
Ensembl chrNW_004624760:3,446,028...3,454,818 		JBrowse link
myeloid neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg2b autophagy related 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26280900 NCBI chrNW_004624734:7,015,356...7,097,392
Ensembl chrNW_004624734:7,015,672...7,096,348 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22875613 NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131 		JBrowse link
G Calr calreticulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chrNW_004624901:511,295...515,208
Ensembl chrNW_004624901:511,052...516,757 		JBrowse link
G Cbl Cbl proto-oncogene disease_progression ISO DNA:mutations:exons:
ClinVar Annotator: match by term: Myeloproliferative disorder		 RGD
ClinVar		 PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More... RGD:11038798 RGD:11038808 NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO protein:increased expression:platelet, plasma membrane RGD PMID:12479587 RGD:11040908 NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333 		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 chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:17420284 RGD:5131859 NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO DNA:translocation: : RGD PMID:9044825 RGD:10450608 NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO RGD PMID:22233633 RGD:10450869 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:16959024 RGD:11340218 NCBI chrNW_004624742:3,112,827...3,123,424
Ensembl chrNW_004624742:3,112,801...3,124,301 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:12969958 PMID:15448205 PMID:21936542 PMID:22875613 RGD:11352309 RGD:11352667 NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870 		JBrowse link
G Fgfr1op2 FGFR1 oncogene partner 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22875613 NCBI chrNW_004624752:12,226,729...12,257,357 JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO RGD PMID:17936561 RGD:11049465 NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO RGD PMID:22932805 RGD:11040453 NCBI chrNW_004624742:5,260,651...5,271,908
Ensembl chrNW_004624742:5,261,537...5,270,695 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chrNW_004624760:3,446,028...3,454,818
Ensembl chrNW_004624760:3,446,028...3,454,818 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:27077777 RGD:11352761 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Gskip GSK3B interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26280900 NCBI chrNW_004624734:7,003,240...7,015,215
Ensembl chrNW_004624734:7,002,240...7,015,194 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21937694 RGD:11354915 NCBI chrNW_004624760:9,986,529...9,991,261
Ensembl chrNW_004624760:9,986,656...9,995,252 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35568132 NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: Myeloproliferative disorder ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chrNW_004624736:9,838,781...9,848,514 JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:20585039 RGD:11530030 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chrNW_004624746:2,272,385...2,290,400
Ensembl chrNW_004624746:2,272,389...2,290,455 		JBrowse link
G Jak2 Janus kinase 2 severity
no_association		 ISO DNA:missense mutation:cds:p.V617F (human)
ClinVar Annotator: match by term: Myeloproliferative disorder
DNA:SNP:intron: (rs12342421) (human)		 RGD
ClinVar		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... RGD:10449376 RGD:10449393 NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:missense mutation: :p.G12D (mouse) RGD PMID:21451123 RGD:11060138 NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO DNA:translocation: :
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9044825 PMID:29047144 RGD:10450608 NCBI chrNW_004624730:47,104,929...47,693,885
Ensembl chrNW_004624730:47,104,319...47,284,839 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chrNW_004624892:2,656,260...2,671,455
Ensembl chrNW_004624892:2,656,260...2,669,946 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C (human) RGD PMID:23107469 RGD:10449419 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Npm1 nucleophosmin 1 ISO DNA:insertion mutation:cds:c.854_857dupTCTG(mouse) RGD PMID:23226219 RGD:11534989 NCBI chrNW_004624733:18,645,269...18,655,073 JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO RGD PMID:18829548 RGD:10769354 NCBI chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479 		JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 ISO RGD PMID:12351651 RGD:1331842 NCBI chrNW_004624756:21,857,048...21,869,657
Ensembl chrNW_004624756:21,857,721...21,867,727 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29370077 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Zmym2 zinc finger MYM-type containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22875613 NCBI chrNW_004624776:17,631,511...17,744,153 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 chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881 		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 ISO MouseDO NCBI chrNW_004624741:188,985...258,065
Ensembl chrNW_004624741:188,745...250,142 		JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO RGD PMID:23897249 RGD:10450501 NCBI chrNW_004624764:19,356,848...19,396,209
Ensembl chrNW_004624764:19,356,361...19,367,860 		JBrowse link
G Cux1 cut like homeobox 1 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm ClinVar PMID:25741868 NCBI chrNW_004624740:15,289,616...15,664,090
Ensembl chrNW_004624740:15,287,421...15,664,077 		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 chrNW_004624733:12,571,208...12,576,721
Ensembl chrNW_004624733:12,570,402...12,578,019 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO DNA:translocation: : RGD PMID:12181402 RGD:10450606 NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164 		JBrowse link
G Itpkb inositol-trisphosphate 3-kinase B ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:25741868 PMID:35101336 NCBI chrNW_004624807:658,334...741,018
Ensembl chrNW_004624807:658,231...741,195 		JBrowse link
G Jak2 Janus kinase 2 ISO MouseDO NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		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 chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576 		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 chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:22703879 PMID:22718859 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO DNA:translocation: : RGD
MouseDO		 PMID:12181402 RGD:10450606 NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881 		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 chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:25741868 PMID:28492532 PMID:35101336 NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		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 chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		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 Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624778:3,391,690...3,475,548 JBrowse link
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624747:27,699,397...27,707,592
Ensembl chrNW_004624747:27,698,816...27,709,514 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624778:3,382,993...3,390,357
Ensembl chrNW_004624778:3,383,017...3,390,036 		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 chrNW_004624747:27,699,397...27,707,592
Ensembl chrNW_004624747:27,698,816...27,709,514 		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 Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624778:3,391,690...3,475,548 JBrowse link
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 chrNW_004624778:3,382,993...3,390,357
Ensembl chrNW_004624778:3,383,017...3,390,036 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:14991917 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		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 chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria ClinVar PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More... NCBI chrNW_004624829:128,161...143,378
Ensembl chrNW_004624829:128,586...142,150 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis class T ISO CTD Direct Evidence: marker/mechanism CTD PMID:25417052 NCBI chrNW_004624790:9,075,733...9,084,961
Ensembl chrNW_004624790:9,075,773...9,084,959 		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 chrNW_004624829:128,161...143,378
Ensembl chrNW_004624829:128,586...142,150 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 ClinVar PMID:25741868 NCBI chrNW_004624790:9,075,733...9,084,961
Ensembl chrNW_004624790:9,075,773...9,084,959 		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 chrNW_004624790:9,075,733...9,084,961
Ensembl chrNW_004624790:9,075,773...9,084,959 		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 chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chrNW_004624751:624,569...647,198 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 chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G Bcl2l1 BCL2 like 1 ISO protein:increased expression:bone marrow, erythroid cell (human) RGD PMID:9475763 RGD:11353849 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333 		JBrowse link
G Epor erythropoietin receptor ISO mRNA:decreased expression:blood cell: RGD PMID:9207443 RGD:11041603 NCBI chrNW_004624828:3,181,772...3,187,242
Ensembl chrNW_004624828:3,181,957...3,187,231 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:8569275 RGD:11059504 NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535 		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 RGD:10755491 NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376 		JBrowse link
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: Polycythemia rubra vera | ClinVar Annotator: match by term: Polycythemia vera ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chrNW_004624736:9,838,781...9,848,514 JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Polycythemia rubra vera | ClinVar Annotator: match by term: Polycythemia vera OMIM
ClinVar		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		JBrowse link
G LOC101715199 neutrophil elastase ISO protein:increased expression:plasma: RGD PMID:12186827 PMID:18768782 RGD:10450556 RGD:10450557 NCBI chrNW_004624828:7,720,020...7,722,842 JBrowse link
Primary Lymphedema with Myelodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abtb1 ankyrin repeat and BTB domain containing 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624974:77,137...81,198
Ensembl chrNW_004624974:77,220...80,876 		JBrowse link
G Acad11 acyl-CoA dehydrogenase family member 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,704,458...8,792,678
Ensembl chrNW_004624730:8,704,350...8,792,741 		JBrowse link
G Acad9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chrNW_004624781:7,683,025...7,717,427 JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,732,124...8,738,968
Ensembl chrNW_004624730:8,733,586...8,738,961 		JBrowse link
G Acp3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,375,429...8,441,375
Ensembl chrNW_004624730:8,375,258...8,432,302 		JBrowse link
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624912:1,632,469...1,767,885
Ensembl chrNW_004624912:1,632,107...1,768,462 		JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family member L1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:385,583...468,270
Ensembl chrNW_004624773:385,594...468,270 		JBrowse link
G Amotl2 angiomotin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,695,648...10,713,188
Ensembl chrNW_004624730:10,695,138...10,713,808 		JBrowse link
G Anapc13 anaphase promoting complex subunit 13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,805,200...10,811,341
Ensembl chrNW_004624730:10,805,250...10,810,853 		JBrowse link
G Argfx arginine-fifty homeobox ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,589,149...26,590,917 JBrowse link
G Aste1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:6,998,194...7,010,284
Ensembl chrNW_004624730:6,998,274...7,008,828 		JBrowse link
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:6,865,197...7,001,378 JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:9,685,568...9,772,984
Ensembl chrNW_004624730:9,685,568...9,772,984 		JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624912:2,270,467...2,316,998
Ensembl chrNW_004624912:2,269,829...2,317,154 		JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712 		JBrowse link
G Cdv3 CDV3 homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:9,888,328...9,904,516 JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,811,159...10,861,973
Ensembl chrNW_004624730:10,817,662...10,864,664 		JBrowse link
G Cfap100 cilia and flagella associated protein 100 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:149,957...207,015
Ensembl chrNW_004624773:150,205...205,754 		JBrowse link
G Cfap92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624781:7,632,720...7,685,390 JBrowse link
G Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624900:2,500,357...2,752,134
Ensembl chrNW_004624900:2,500,456...2,753,534 		JBrowse link
G Chst13 carbohydrate sulfotransferase 13 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:44,189...68,630
Ensembl chrNW_004624773:43,268...68,365 		JBrowse link
G Cnbp CCHC-type zinc finger nucleic acid binding protein ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624943:943,381...955,997
Ensembl chrNW_004624943:944,900...959,999 		JBrowse link
G Col6a6 collagen type VI alpha 6 chain ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:6,503,509...6,640,223
Ensembl chrNW_004624730:6,503,546...6,639,516 		JBrowse link
G Copg1 COPI coat complex subunit gamma 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:299,625...320,974 JBrowse link
G Cpne4 copine 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:7,546,501...8,079,183
Ensembl chrNW_004624730:7,548,099...7,944,326 		JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:657,771...671,304
Ensembl chrNW_004624912:657,774...671,329 		JBrowse link
G Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:2322343 PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 More... NCBI chrNW_004624961:170,909...171,985 JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,497,781...8,649,058
Ensembl chrNW_004624730:8,517,998...8,648,318 		JBrowse link
G Dtx3l deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:871,024...880,299
Ensembl chrNW_004624912:871,584...880,626 		JBrowse link
G Eaf2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:112,793...168,553
Ensembl chrNW_004624912:112,843...168,553 		JBrowse link
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chrNW_004624961:195,904...414,552
Ensembl chrNW_004624961:196,552...414,545 		JBrowse link
G Efcab12 EF-hand calcium binding domain 12 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:436,644...451,283 JBrowse link
G Efcc1 EF-hand and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624781:7,589,756...7,625,387
Ensembl chrNW_004624781:7,595,408...7,624,733 		JBrowse link
G Ephb1 EPH receptor B1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:11,120,018...11,564,972
Ensembl chrNW_004624730:11,119,909...11,565,293 		JBrowse link
G Fam162a family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:739,804...763,149
Ensembl chrNW_004624912:739,917...762,939 		JBrowse link
G Fbxo40 F-box protein 40 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,561,050...26,579,450
Ensembl chrNW_004624731:26,562,650...26,579,272 		JBrowse link
G Fstl1 follistatin like 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:27,789,671...27,839,267
Ensembl chrNW_004624731:27,790,363...27,841,251 		JBrowse link
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia OMIM
ClinVar		 PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 More... NCBI chrNW_004624961:147,685...155,614
Ensembl chrNW_004624961:143,358...154,003 		JBrowse link
G Golgb1 golgin B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,438,529...26,526,205
Ensembl chrNW_004624731:26,455,126...26,526,316 		JBrowse link
G Gp9 glycoprotein IX platelet ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624781:7,579,824...7,581,516 JBrowse link
G Gtf2e1 general transcription factor IIE subunit 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:27,453,525...27,484,844
Ensembl chrNW_004624731:27,453,531...27,484,819 		JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624912:1,814,906...1,916,584
Ensembl chrNW_004624912:1,814,906...1,917,009 		JBrowse link
G Hcls1 hematopoietic cell-specific Lyn substrate 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,528,163...26,559,108
Ensembl chrNW_004624731:26,528,097...26,560,695 		JBrowse link
G Heg1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:1,015,889...1,092,875
Ensembl chrNW_004624731:1,020,805...1,092,995 		JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:27,549,245...27,604,142
Ensembl chrNW_004624731:27,548,922...27,604,131 		JBrowse link
G Hmces 5-hydroxymethylcytosine binding, ES cell specific ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:344,249...353,577
Ensembl chrNW_004624872:344,262...352,936 		JBrowse link
G Hspbap1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:1,023,981...1,102,153
Ensembl chrNW_004624912:1,023,567...1,100,937 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:462,778...520,217
Ensembl chrNW_004624872:462,916...520,323 		JBrowse link
G Il20rb interleukin 20 receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:13,371,898...13,408,927
Ensembl chrNW_004624730:13,378,478...13,409,676 		JBrowse link
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:269,657...300,537
Ensembl chrNW_004624912:267,185...300,550 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:56,209...112,766
Ensembl chrNW_004624912:56,946...113,438 		JBrowse link
G Isy1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624943:968,193...984,683 JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:804,272...914,204
Ensembl chrNW_004624731:802,854...914,167 		JBrowse link
G Kalrn kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:54,934...756,707
Ensembl chrNW_004624731:121,122...752,942 		JBrowse link
G Kbtbd12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624974:263,569...317,211
Ensembl chrNW_004624974:262,913...317,308 		JBrowse link
G Klf15 KLF transcription factor 15 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:243,599...256,786
Ensembl chrNW_004624773:243,569...257,531 		JBrowse link
G Kpna1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:772,420...822,580 JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,908,558...10,955,497
Ensembl chrNW_004624730:10,908,923...10,955,472 		JBrowse link
G LOC101700059 histone H1oo ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:533,877...539,770 JBrowse link
G LOC101719398 serotransferrin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,078,165...10,109,349 JBrowse link
G Mbd4 methyl-CpG binding domain 4, DNA glycosylase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:453,303...462,661
Ensembl chrNW_004624872:451,118...462,509 		JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624974:85,513...169,904
Ensembl chrNW_004624974:87,600...170,228 		JBrowse link
G Mix23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:696,488...739,862
Ensembl chrNW_004624912:694,859...727,275 		JBrowse link
G Mrpl3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:7,470,673...7,509,922
Ensembl chrNW_004624730:7,470,590...7,510,028 		JBrowse link
G Msl2 MSL complex subunit 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:12,569,562...12,618,933 JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:943,067...955,989 JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624912:1,952,053...2,213,196
Ensembl chrNW_004624912:1,953,838...2,172,561 		JBrowse link
G Nck1 NCK adaptor protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:13,271,575...13,366,930
Ensembl chrNW_004624730:13,226,315...13,366,661 		JBrowse link
G Ndufb4 NADH:ubiquinone oxidoreductase subunit B4 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:27,634,669...27,641,144
Ensembl chrNW_004624731:27,625,758...27,641,646 		JBrowse link
G Nek11 NIMA related kinase 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:7,010,314...7,343,072
Ensembl chrNW_004624730:7,011,227...7,346,903 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649 		JBrowse link
G Osbpl11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624730:73,322,753...73,390,283
Ensembl chrNW_004624730:73,322,639...73,391,823 		JBrowse link
G Parp14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:969,144...1,022,506
Ensembl chrNW_004624912:969,236...1,023,564 		JBrowse link
G Parp9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:827,112...968,501
Ensembl chrNW_004624912:827,547...859,199 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:12,662,419...12,811,112
Ensembl chrNW_004624730:12,661,777...12,810,991 		JBrowse link
G Pdia5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:1,408,645...1,523,498 JBrowse link
G Pik3r4 phosphoinositide-3-kinase regulatory subunit 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:6,642,195...6,744,480
Ensembl chrNW_004624730:6,642,190...6,744,470 		JBrowse link
G Plxna1 plexin A1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624900:2,779,008...2,825,263
Ensembl chrNW_004624900:2,784,106...2,825,360 		JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:542,776...571,019
Ensembl chrNW_004624872:543,553...571,019 		JBrowse link
G Podxl2 podocalyxin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624974:43,578...76,918
Ensembl chrNW_004624974:43,335...76,837 		JBrowse link
G Polq DNA polymerase theta ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,649,606...26,808,098
Ensembl chrNW_004624731:26,649,727...26,807,222 		JBrowse link
G Ppp2r3a protein phosphatase 2 regulatory subunit B''alpha ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:12,384,691...12,568,115
Ensembl chrNW_004624730:12,429,902...12,567,683 		JBrowse link
G Prr23e PRR23 family member E ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624936:1,295,099...1,295,893 JBrowse link
G Rab43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624943:991,802...1,024,434
Ensembl chrNW_004624943:991,682...1,024,434 		JBrowse link
G Rab6b RAB6B, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,134,215...10,197,534
Ensembl chrNW_004624730:10,133,949...10,197,551 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chrNW_004625042:56,509...112,519
Ensembl chrNW_004625042:56,517...112,612 		JBrowse link
G Rabl3 RAB, member of RAS oncogene family like 3 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:27,484,856...27,537,365
Ensembl chrNW_004624731:27,484,497...27,535,436 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:523,892...528,278
Ensembl chrNW_004624872:523,912...527,615 		JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624912:2,324,166...2,351,147
Ensembl chrNW_004624912:2,324,406...2,351,181 		JBrowse link
G Rpn1 ribophorin I ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chrNW_004624961:9,482...45,569
Ensembl chrNW_004624961:9,488...45,975 		JBrowse link
G Ruvbl1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chrNW_004624961:427,836...460,887 JBrowse link
G Ryk receptor like tyrosine kinase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,462,590...10,568,780 JBrowse link
G Sec22a SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:1,531,620...1,628,265 JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chrNW_004624961:466,234...477,880
Ensembl chrNW_004624961:467,656...477,884 		JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:1,244,801...1,370,253
Ensembl chrNW_004624912:1,244,801...1,280,609 		JBrowse link
G Slc12a8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:1,114,079...1,259,832
Ensembl chrNW_004624731:1,113,489...1,259,344 		JBrowse link
G Slc15a2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:180,048...222,909
Ensembl chrNW_004624912:179,969...222,909 		JBrowse link
G Slc35g2 solute carrier family 35 member G2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:13,226,369...13,261,239
Ensembl chrNW_004624730:13,234,213...13,261,175 		JBrowse link
G Slc41a3 solute carrier family 41 member 3 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:480,486...534,985
Ensembl chrNW_004624773:480,471...534,378 		JBrowse link
G Slc49a4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:1,102,252...1,212,569
Ensembl chrNW_004624912:1,102,279...1,212,569 		JBrowse link
G Slco2a1 solute carrier organic anion transporter family member 2A1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,256,799...10,339,388
Ensembl chrNW_004624730:10,256,799...10,339,827 		JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:1,522,467...1,585,793
Ensembl chrNW_004624731:1,522,098...1,586,066 		JBrowse link
G Srprb SRP receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,114,870...10,131,833
Ensembl chrNW_004624730:10,114,281...10,133,794 		JBrowse link
G Stag1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:12,762,099...13,158,603
Ensembl chrNW_004624730:12,761,460...13,086,965 		JBrowse link
G Stxbp5l syntaxin binding protein 5L ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,815,873...27,305,344
Ensembl chrNW_004624731:26,820,018...27,305,447 		JBrowse link
G Tmcc1 transmembrane and coiled-coil domain family 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:588,941...688,352
Ensembl chrNW_004624872:588,370...688,311 		JBrowse link
G Tmem108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:9,314,308...9,683,324
Ensembl chrNW_004624730:9,522,166...9,683,365 		JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:9,916,717...9,994,666
Ensembl chrNW_004624730:9,914,140...9,994,775 		JBrowse link
G Tpra1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624961:505,299...519,071
Ensembl chrNW_004624961:502,736...519,353 		JBrowse link
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:866,370...868,624
Ensembl chrNW_004624872:866,365...868,739 		JBrowse link
G Uba5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,791,691...8,819,957
Ensembl chrNW_004624730:8,792,854...8,867,707 		JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:761,235...780,355
Ensembl chrNW_004624731:761,210...779,321 		JBrowse link
G Uroc1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:72,871...107,686
Ensembl chrNW_004624773:72,847...107,686 		JBrowse link
G Wdr5b WD repeat domain 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:762,893...766,690
Ensembl chrNW_004624912:764,076...766,647 		JBrowse link
G Znf148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:1,271,478...1,410,047
Ensembl chrNW_004624731:1,278,242...1,354,063 		JBrowse link
G Zxdc ZXD family zinc finger C ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:110,812...149,806
Ensembl chrNW_004624773:111,050...148,196 		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 chrNW_004624801:7,727,084...7,735,946
Ensembl chrNW_004624801:7,727,093...7,735,940 		JBrowse link
G Flt3lg fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum: RGD PMID:10214861 RGD:11049479 NCBI chrNW_004624832:4,733,820...4,739,214 JBrowse link
G Hfe homeostatic iron regulator no_association ISO associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)
associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)		 RGD PMID:17654685 RGD:10755539 NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376 		JBrowse link
G Tcn2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chrNW_004624747:6,970,707...6,987,946
Ensembl chrNW_004624747:6,971,289...6,987,440 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:18426652 RGD:11038658 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10870480 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Ybx1 Y-box binding protein 1 ISO RGD PMID:14604279 RGD:1580637 NCBI chrNW_004624892:1,939,641...1,957,621
Ensembl chrNW_004624892:1,939,098...1,957,623 		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 chrNW_004624801:7,727,084...7,735,946
Ensembl chrNW_004624801:7,727,093...7,735,940 		JBrowse link
G C3 complement C3 disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G Cfb complement factor B disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:18426652 RGD:11038658 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 disease_progression ISO RGD PMID:25200248 RGD:11038682 NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		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:18398482 PMID:18637800 RGD:11038732 NCBI chrNW_004624836:5,605,901...5,769,488
Ensembl chrNW_004624836:5,605,831...5,766,275 		JBrowse link
G Alad aminolevulinate dehydratase ISO protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chrNW_004624760:21,698,689...21,709,907
Ensembl chrNW_004624760:21,698,587...21,711,822 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:transversion:cds:p.F165L (human)		 CTD
RGD		 PMID:7949148 PMID:16716198 PMID:16892088 RGD:1599037 NCBI chrNW_004624910:426,273...726,778
Ensembl chrNW_004624910:426,032...448,325 		JBrowse link
G Calr calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chrNW_004624901:511,295...515,208
Ensembl chrNW_004624901:511,052...516,757 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chrNW_004624908:1,633,927...1,636,242
Ensembl chrNW_004624908:1,634,174...1,636,242 		JBrowse link
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chrNW_004624734:7,986,999...7,995,604
Ensembl chrNW_004624734:7,987,116...7,995,220 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624743:31,324,085...31,345,681
Ensembl chrNW_004624743:31,324,085...31,345,695 		JBrowse link
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624747:27,699,397...27,707,592
Ensembl chrNW_004624747:27,698,816...27,709,514 		JBrowse link
G Slc25a38 solute carrier family 25 member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chrNW_004624730:78,818,069...78,832,091 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550 		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 | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
DNA:mutations:exons:p.K299Q,A172T(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)		 OMIM
ClinVar
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More... RGD:11035241 RGD:11035243 NCBI chrNW_004624910:426,273...726,778
Ensembl chrNW_004624910:426,032...448,325 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chrNW_004624910:382,144...398,151
Ensembl chrNW_004624910:382,244...400,714 		JBrowse link
G Slc25a38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624730:78,818,069...78,832,091 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 cochaperone ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 5 OMIM
ClinVar		 PMID:25741868 PMID:32634119 NCBI chrNW_004624747:5,072,708...5,094,404 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 chrNW_004624773:13,363,449...13,382,789
Ensembl chrNW_004624773:13,362,983...13,395,086 		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 chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
Thrombocythemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic OMIM
ClinVar		 PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More... NCBI chrNW_004624892:2,656,260...2,671,455
Ensembl chrNW_004624892:2,656,260...2,669,946 		JBrowse link
Thrombocythemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chrNW_004624736:9,838,781...9,848,514 JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 OMIM
ClinVar		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		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 chrNW_004624754:24,486,241...24,491,771
Ensembl chrNW_004624754:24,487,765...24,489,315 		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		 RGD
CTD		 PMID:26608331 RGD:11352752 NCBI chrNW_004624901:511,295...515,208
Ensembl chrNW_004624901:511,052...516,757 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:16244771 RGD:1598473 NCBI chrNW_004624748:8,850,128...8,927,986
Ensembl chrNW_004624748:8,849,900...8,928,853 		JBrowse link
G Epor erythropoietin receptor ISO RGD PMID:8400289 RGD:11041647 NCBI chrNW_004624828:3,181,772...3,187,242
Ensembl chrNW_004624828:3,181,957...3,187,231 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:2265245 RGD:10450885 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism
associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F
essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F
DNA:point mutations: :p.S755R, p.R938Q (human)		 CTD
RGD		 PMID:15781101 PMID:19287382 PMID:19287384 PMID:22467227 PMID:24398328 RGD:10449375 RGD:15039391 RGD:1627655 NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:c.317C > T,p.P106L(human)		 CTD
RGD		 PMID:15813844 PMID:16484586 PMID:19036112 RGD:11073684 NCBI chrNW_004624892:2,656,260...2,671,455
Ensembl chrNW_004624892:2,656,260...2,669,946 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624747:20,729,142...20,759,631
Ensembl chrNW_004624747:20,730,751...20,759,625 		JBrowse link
G Thpo thrombopoietin susceptibility ISO DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9694695 PMID:15813844 PMID:33122006 RGD:1601655 NCBI chrNW_004624730:72,210,880...72,218,615
Ensembl chrNW_004624730:72,212,423...72,219,485 		JBrowse link
Thrombocytosis, Benign Familial Microcytic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic ClinVar PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:16199547 More... NCBI chrNW_004624892:2,656,260...2,671,455
Ensembl chrNW_004624892:2,656,260...2,669,946 		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 OMIM
ClinVar		 PMID:25741868 PMID:27993330 PMID:28492532 NCBI chrNW_004624893:595,948...602,980
Ensembl chrNW_004624893:595,967...602,979 		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 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
DNA:missense mutation: :p.I400M (human)		 OMIM
ClinVar
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More... RGD:1598600 NCBI chrNW_004624836:5,605,901...5,769,488
Ensembl chrNW_004624836:5,605,831...5,766,275 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar PMID:25741868 NCBI chrNW_004624910:426,273...726,778
Ensembl chrNW_004624910:426,032...448,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14226
    disease of anatomical entity 13929
      hematopoietic system disease 3343
        bone marrow disease 740
          Bone Marrow Neoplasms 436
            bone marrow cancer + 436
Path 2
Term Annotations click to browse term
  disease 14226
    disease of anatomical entity 13929
      Hemic and Lymphatic Diseases 3776
        hematopoietic system disease 3343
          Hematologic Neoplasms 953
            Bone Marrow Neoplasms 436
              bone marrow cancer + 436
paths to the root