Bone Marrow Neoplasms - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	go back to main search page
Accession:	DOID:9002641	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

show annotations for term's descendants Sort by:
Rat (515) Mouse (591) Human (13482) Chinchilla (440) Bonobo (476) Dog (473) Squirrel (436) Pig (464) Green Monkey (461) Naked Mole-rat (436) All
Genes (473)

Bone Marrow Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108

G

tumor protein p53

disease_progression

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

Acute Erythroleukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

DEAD-box helicase 41

CTD Direct Evidence: marker/mechanism

NCBI chr 4:35,854,382...35,859,853
Ensembl chr 4:35,854,597...35,859,852

G

fms related receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:bone marrow cell:

NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812

G

homeobox B9

CTD Direct Evidence: marker/mechanism

NCBI chr 9:24,884,101...24,889,904
Ensembl chr 9:24,872,950...24,889,376

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971

G

nucleophosmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:40,756,464...40,770,174
Ensembl chr 4:40,756,465...40,770,175

G

nucleoporin 98 and 96 precursor

CTD Direct Evidence: marker/mechanism

NCBI chr21:26,231,585...26,348,019
Ensembl chr21:26,220,963...26,336,020

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

alpha-thalassemia myelodysplasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX chromatin remodeler

ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome

PMID:3239563 PMID:9326931 PMID:10398237 PMID:10632111 PMID:10995512 More...

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

AMED syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alcohol dehydrogenase 5 (class III), chi polypeptide

ClinVar Annotator: match by term: AMED syndrome, digenic

PMID:25741868 PMID:33355142

NCBI chr32:21,249,459...21,261,130
Ensembl chr32:21,249,739...21,265,048

G

aldehyde dehydrogenase 2 family member

ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC

PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More...

NCBI chr26:9,319,109...9,361,021

atypical chronic myeloid leukemia, BCR-ABL1 negative

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

ASXL transcriptional regulator 1

ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative

NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815

G

fibroblast growth factor receptor 1

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

major facilitator superfamily domain containing 11

ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative

NCBI chr 9:4,001,052...4,027,805
Ensembl chr 9:4,003,113...4,029,573

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005

G

serine and arginine rich splicing factor 2

ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative

NCBI chr 9:4,028,414...4,032,371
Ensembl chr 9:4,028,482...4,030,793

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Atypical chronic myeloid leukemia | ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative

PMID:22905207 PMID:28492532

NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536

autosomal dominant sideroblastic anemia 4

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heat shock protein family A (Hsp70) member 9

ClinVar Annotator: match by term: Anemia, sideroblastic, 4 | ClinVar Annotator: match by term: HSPA9-related condition

PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 PMID:26598328 More...

NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434

autosomal recessive pyridoxine-refractory sideroblastic anemia 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841

G

solute carrier family 25 member 38

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

PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More...

NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788

autosomal recessive pyridoxine-refractory sideroblastic anemia 3

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin 5

ClinVar Annotator: match by term: Sideroblastic anemia 3

PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 More...

NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841

Autosomal Sideroblastic Anemia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arylsulfatase A

ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia

NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398

Blast Crisis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation induced cytidine deaminase

CTD Direct Evidence: marker/mechanism

NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr26:27,856,280...27,980,923
Ensembl chr26:27,856,082...27,978,318

G

estrogen receptor 2

NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691

G

heme oxygenase 1

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

microRNA mir-150

miRNA:decreased expression:leukocytes

NCBI chr 1:106,998,756...106,998,812
Ensembl chr 1:106,998,756...106,998,812

G

transcobalamin 2

protein:increased expression::

NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832

Bone Marrow Failure Syndrome 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal recognition particle 72

ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition

PMID:9536098 PMID:17576681 PMID:22541560 PMID:25741868 PMID:28492532

NCBI chr13:48,688,295...48,717,826
Ensembl chr13:48,688,295...48,717,824

chronic myelogenous leukemia, BCR-ABL1 positive

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive

PMID:10988075 PMID:11423618 PMID:12130516 PMID:25686603 PMID:25741868 More...

NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307

G

BCR activator of RhoGEF and GTPase

ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive

PMID:25741868 PMID:28492532

NCBI chr26:27,856,280...27,980,923
Ensembl chr26:27,856,082...27,978,318

G

IKAROS family zinc finger 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive

NCBI chr18:1,661,851...1,750,987
Ensembl chr18:1,661,690...1,770,768

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive

PMID:8439212 PMID:15696205 PMID:17332249 PMID:17704260 PMID:19047918 More...

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive

NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896

chronic myeloid leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

susceptibility
treatment

DNA:SNP, haplotype: :3435C>T (human)
DNA:SNPs: :1236T>C,2677G>A(human)

PMID:24581936 PMID:26250462

RGD:11081178 RGD:11081180

NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727

G

ATP binding cassette subfamily C member 2

treatment

DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human)

NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740

G

ATP binding cassette subfamily G member 2

susceptibility
treatment

DNA:SNP,haplotype: :C>A421(human)
DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human)
DNA:SNP: :421C>A(human)

PMID:24123600 PMID:24581936 PMID:26250462

RGD:11081178 RGD:11081180 RGD:11081181

NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

susceptibility
treatment

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 chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307

G

angiotensin I converting enzyme

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

angiotensinogen

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

AKT serine/threonine kinase 1

protein:increased phosphorylation:blood

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: therapeutic

PMID:19503090 PMID:19823023

NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609

G

aryl hydrocarbon receptor nuclear translocator like

CTD Direct Evidence: marker/mechanism

NCBI chr21:36,254,235...36,323,915
Ensembl chr21:36,290,070...36,323,622

G

B9 domain containing 2

protein:increased expression:serum

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

BCL2 like 1

NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355

G

BCR activator of RhoGEF and GTPase

treatment
disease_progression
susceptibility

BCR/ABL fusion
DNA:translocations:cds:
DNA:gene fusion
DNA:methylation: :

PMID:2683759 PMID:3101769 PMID:7683349 PMID:12613514

RGD:11038776 RGD:11038783 RGD:1600510 RGD:41404631

NCBI chr26:27,856,280...27,980,923
Ensembl chr26:27,856,082...27,978,318

G

baculoviral IAP repeat containing 5

CTD Direct Evidence: therapeutic

NCBI chr 9:2,930,308...2,959,307

G

carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267

G

caspase 6

treatment

human cells in mouse model

NCBI chr32:29,897,706...29,910,522
Ensembl chr32:29,897,823...29,911,469

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

CD40 molecule

protein:increased expression:peripheral blood, dendritic cell (human)

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

cyclin dependent kinase inhibitor 1B

Protein:increased expression:Blood,common myeloid progenitor, CD34-positive

NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906

G

cyclin dependent kinase inhibitor 2A

treatment

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

cysteine and histidine rich domain containing 1

OMIM:608232

NCBI chr21:10,129,812...10,152,416
Ensembl chr21:10,129,341...10,149,105

G

CRK like proto-oncogene, adaptor protein

protein:increased phosphorylation:blood

NCBI chr26:30,542,276...30,582,479
Ensembl chr26:30,545,311...30,581,964

G

cryptochrome circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:31,681,098...31,792,995
Ensembl chr10:31,681,288...31,780,306

G

cryptochrome circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:43,538,335...43,573,651
Ensembl chr18:43,539,612...43,573,875

G

cytochrome P450 family 1 subfamily A member 1

treatment

DNA:polymorphism:cds:4889A>G(p.I462V)(human)

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

major histocompatibility complex, class II, DQ beta 1

DNA:polymorphism, haplotype

NCBI chr12:2,305,307...2,307,711

G

DNA methyltransferase 1

disease_progression

NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029

G

DNA methyltransferase 3 alpha

disease_progression

NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902

G

DNA methyltransferase 3 beta

disease_progression

NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900

G

E2F transcription factor 1

mRNA:increased expression:blood

NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656

G

ERCC excision repair 2, TFIIH core complex helicase subunit

DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:polymorphism: :p.K751Q (human)

PMID:24955348 PMID:25311495

RGD:11060463 RGD:11252188

NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

mRNA:increased expression:bone marrow mononuclear cells (human)

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

Fas cell surface death receptor

susceptibility

DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human)

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

Fas ligand

susceptibility

DNA:polymorphism:promoter: -844 T>C(human)

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

fibroblast growth factor receptor 3

mRNA:increased expression:peripheral blood (human)

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

GRB2 associated binding protein 2

disease_progression

protein:increased expression:bone marrow

NCBI chr21:20,414,903...20,605,807
Ensembl chr21:20,277,507...20,606,736

G

glutathione peroxidase 1

no_association

DNA:polymorphism: :p.P198L (human)

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

hes family bHLH transcription factor 1

rat gene in a mouse model

G

hyaluronan mediated motility receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:47,743,576...47,786,982
Ensembl chr 4:47,744,433...47,786,987

G

heme oxygenase 1

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257

G

interleukin 10

treatment

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 1 beta

severity

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 1 receptor antagonist

severity

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

mitogen-activated protein kinase 14

CTD Direct Evidence: therapeutic

NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603

G

MDM2 proto-oncogene

onset

DNA:SNP:promoter:rs2279744(human)

NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596

G

microRNA mir-150

miRNA:decreased expression:leukocytes

NCBI chr 1:106,998,756...106,998,812
Ensembl chr 1:106,998,756...106,998,812

G

methylenetetrahydrofolate reductase

DNA:SNPs: :677C>T, 1298A>C(human)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

nicastrin

OMIM:608232

NCBI chr38:21,878,071...21,891,362
Ensembl chr38:21,685,868...21,892,097

G

NAD(P)H quinone dehydrogenase 1

DNA:SNP: :609C>T (human)

NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:serum (human)

NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778

G

period circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,957,517...32,972,368
Ensembl chr 5:32,957,127...32,968,465

G

period circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:48,716,499...48,761,617
Ensembl chr25:48,717,173...48,758,755

G

period circadian regulator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:61,445,580...61,499,393
Ensembl chr 5:61,445,461...61,498,499

G

PRAME nuclear receptor transcriptional regulator

mRNA:increased expression:mononuclear cell (human)
CTD Direct Evidence: marker/mechanism

PMID:17157168 PMID:20838376

NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896

G

SH2B adaptor protein 3

OMIM:608232

NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204

G

signal-induced proliferation-associated 1

OMIM:608232

NCBI chr18:51,560,551...51,571,291
Ensembl chr18:51,560,551...51,568,885

G

SMAD family member 4

mRNA:decreased expression:blood

NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405

G

serine and arginine rich splicing factor 1

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 9:32,692,517...32,696,325
Ensembl chr 9:32,694,073...32,696,285

G

signal transducer and activator of transcription 5A

treatment
disease_progression

human cells in mouse model
mRNA:increased expression:PBMC (human)

PMID:16522816 PMID:31952546

RGD:151667903 RGD:151667904

NCBI chr 9:20,616,041...20,638,523
Ensembl chr 9:20,617,151...20,638,103

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:15068898 PMID:17157168

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

ubiquitin specific peptidase 15

mRNA, protein:decreased expression:PBMC (human)

NCBI chr10:5,510,759...5,634,954
Ensembl chr10:5,510,022...5,634,202

G

vascular endothelial growth factor A

susceptibility

DNA:SNP,haplotype: :(rs6999470),(rs833061)(human)

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

G

X-ray repair cross complementing 1

susceptibility

DNA:SNP:cds :p.R194W(human)

NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

chronic myelomonocytic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

DNA:mutations:exon:

NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815

G

cyclin dependent kinase inhibitor 2B

DNA:altered methylation:5'UTR:

NCBI chr11:41,259,627...41,264,832

G

colony stimulating factor 3 receptor

disease_progression

DNA:mutations:multiples:

NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

DNA:mutations:multiple (human)

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

lysine demethylase 6A

NCBI chr X:38,745,854...38,964,029
Ensembl chr X:38,745,854...38,959,842

G

NRAS proto-oncogene, GTPase

onset

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

tet methylcytosine dioxygenase 2

DNA:missense mutations, nonsense mutations, splice-site mutations:multiple

NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536

chronic neutrophilic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

DNA:mutation:exon:p.T618I(human)

PMID:23604229 PMID:24081659

RGD:10450482 RGD:10450483

NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882

erythroleukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514

essential thrombocythemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

autophagy related 2B

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 8:65,039,960...65,110,811
Ensembl chr 8:65,044,194...65,110,796

G

B9 domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

bradykinin receptor B1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 8:65,017,655...65,028,899

G

bradykinin receptor B2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407

G

chromosome 8 C14orf132 homolog

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 8:64,813,713...64,861,449
Ensembl chr 8:64,813,303...64,855,348

G

calreticulin

severity

ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutations:multiple (human)

OMIM
ClinVar
RGD

PMID:24325356 PMID:24325359 PMID:24496303 PMID:25741868

NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

CD40 ligand

protein:increased expression:serum (human)

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

elastase, neutrophil expressed

protein:increased expression:plasma:

NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 8:65,110,659...65,131,205
Ensembl chr 8:65,111,414...65,129,622

G

Janus kinase 2

severity

DNA:mutation: :p.V617F (human)
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521
CTD Direct Evidence: marker/mechanism

RGD
MouseDO
CTD

PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More...

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:15269348 More...

NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350

G

MYB proto-oncogene, transcription factor

OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521

NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1

PMID:15705783 PMID:20404132 PMID:21990094 PMID:23812944 PMID:24777453 More...

NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Thrombocythemia 1

G

thrombopoietin

ClinVar Annotator: match by term: Thrombocythemia 1

PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:16199547 More...

NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933

G

von Willebrand factor

NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142

familial chronic myelocytic leukemia-like syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon regulatory factor 8

OMIM:600080

NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179

Familial Myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

NCBI chr X:41,991,321...41,998,319
Ensembl chr X:41,971,582...41,998,303

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Familial myelofibrosis

NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204

G

vacuolar protein sorting 45 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr17:59,327,781...59,402,172
Ensembl chr17:59,327,806...59,397,811

Ghosal hematodiaphyseal syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thromboxane A synthase 1

ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome | ClinVar Annotator: match by term: TBXAS1-related condition

PMID:8702713 PMID:17203301 PMID:18264100 PMID:19114962 PMID:22735388 More...

NCBI chr16:8,870,283...9,032,105
Ensembl chr16:8,870,284...9,023,462

HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition

PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More...

NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197

Hypochromic Microcytic Anemia with Iron Overload 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 11 member 2

ClinVar Annotator: match by term: SLC11A2-related condition

PMID:25741868 PMID:28492532 PMID:35457224

NCBI chr27:3,788,785...3,823,852
Ensembl chr27:3,787,855...3,822,672

juvenile myelomonocytic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 12

disease_progression

NCBI chr 1:41,614,893...41,712,350
Ensembl chr 1:41,614,714...41,709,798

G

Rho GTPase activating protein 26

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

NCBI chr 2:37,627,448...38,045,589
Ensembl chr 2:37,626,698...38,040,079

G

ASXL transcriptional regulator 1

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:20880116 PMID:21576631 PMID:21881046 PMID:22031865 PMID:22058207 More...

NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More...

NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956

G

colony stimulating factor 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:9389708 PMID:22315502

NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

fms related receptor tyrosine kinase 3

OMIM:607785

NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991

G

Janus kinase 3

disease_progression

CTD Direct Evidence: marker/mechanism

NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 PMID:12720172 More...

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

neurofibromin 1

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 PMID:1783401 More...

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More...

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More...

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

Rac family small GTPase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:27,295,597...27,311,864
Ensembl chr10:27,295,640...27,311,397

G

RAS related

CTD Direct Evidence: marker/mechanism

NCBI chr 1:106,895,413...106,899,265
Ensembl chr 1:106,895,408...106,899,222

G

RAS related 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:37,037,576...37,119,733
Ensembl chr21:37,038,334...37,112,662

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:23832011 PMID:26457647

NCBI chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204

G

zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:12,046,163...12,073,617
Ensembl chr X:12,046,921...12,073,440

Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9 like

ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow

PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 More...

NCBI chr14:18,643,693...18,665,262
Ensembl chr14:18,643,998...18,648,755

multiple myeloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 2

treatment

PMID:16917002 PMID:26314844

RGD:11081075 RGD:11081144

NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674

G

angiotensin I converting enzyme

protein:increased activity:serum

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

albumin

disease_progression

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:41,339,292...41,365,641
Ensembl chr 5:41,343,241...41,364,547

G

apolipoprotein E

treatment

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:33,661,558...33,729,660
Ensembl chr 8:33,661,625...33,727,986

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr24:41,585,483...41,604,875
Ensembl chr24:41,585,518...41,604,791

G

beta-2-microglobulin

ClinVar Annotator: match by term: Myelomatosis

NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997

G

B9 domain containing 2

disease_progression

protein:decreased expression:serum:
DNA:hypermethylation: :

PMID:22560388 PMID:23699600

RGD:11073605 RGD:11073614

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

BCL2 like 1

CTD Direct Evidence: marker/mechanism

PMID:12429644 PMID:14656874

NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355

G

BCL6 corepressor like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:101,153,952...101,215,365
Ensembl chr X:101,154,823...101,214,175

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr28:40,037,681...40,050,499
Ensembl chr28:40,038,643...40,049,797

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Myelomatosis

PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 More...

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Multiple myeloma

PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 More...

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:32,646,520...32,648,222
Ensembl chr15:32,647,472...32,647,762

G

Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956

G

chromobox 7

susceptibility

DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism

NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501

G

coiled-coil alpha-helical rod protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:837,986...840,490
Ensembl chr12:837,993...854,978

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:39,008,187...39,009,932

G

cellular communication network factor 1

exacerbates

mRNA, protein:increased expression:bone marrow (human)
mRNA,protein:increased expression:bone marrow (human)

PMID:25061178 PMID:28035364

RGD:329845528 RGD:329845546

NCBI chr 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994

G

cyclin D1

susceptibility

ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Multiple myeloma
DNA:snp:exon:c.870G>A (rs603965) (human)

ClinVar
OMIM
RGD

PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More...

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cyclin D2

NCBI chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255

G

cyclin D3

NCBI chr12:10,593,786...10,688,304
Ensembl chr12:10,594,712...10,600,891

G

CD40 molecule

treatment

human cells in a mouse model

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

CD40 ligand

disease_progression
treatment

protein:increased expression:serum (human)

PMID:15565183 PMID:22403003 PMID:27243341

RGD:11352240 RGD:11352251 RGD:11352268

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

CD86 molecule

severity

protein:increased expression:bone marrow, plasma cell (human)
CTD Direct Evidence: marker/mechanism

PMID:16611307 PMID:22705596

NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087

G

cyclin dependent kinase 4

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More...

NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789

G

cyclin dependent kinase inhibitor 2A

disease_progression

DNA:hypermethylation::
CTD Direct Evidence: marker/mechanism

PMID:12681979 PMID:16008847

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

cyclin dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr15:10,219,974...10,224,944
Ensembl chr15:10,220,185...10,224,390

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427

G

cereblon

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:14,240,723...14,275,617
Ensembl chr20:14,240,804...14,274,940

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:64,561,684...64,628,829
Ensembl chr 2:64,562,503...64,628,175

G

cytochrome P450 family 1 subfamily A member 1

susceptibility

DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

cytochrome P450 family 2 subfamily D member 15

no_association

DNA:polymorphisms: :

NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298

G

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr22:26,908,502...26,935,368
Ensembl chr22:26,909,409...26,935,033

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902

G

desmoglein 2

disease_progression

NCBI chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926

G

eukaryotic translation initiation factor 1A X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:16,081,335...16,102,627
Ensembl chr X:16,081,392...16,099,142

G

endoglin

severity

protein:increased expression:serum:

NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064

G

epoxide hydrolase 1

susceptibility
no_association

DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:rs2234922 (human)
CTD Direct Evidence: marker/mechanism

PMID:16949155 PMID:19736056 PMID:24521996

RGD:11252116 RGD:11252121 RGD:11252122

NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression
sexual_dimorphism

DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)

PMID:17131345 PMID:22183071

RGD:11252199 RGD:401827277

NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125

G

ETS2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:112,117,338...112,124,464
Ensembl chr 1:112,117,141...112,124,077

G

Fas ligand

disease_progression

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Myelomatosis

PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More...

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

fibrinogen gamma chain

treatment

NCBI chr15:52,261,215...52,270,077
Ensembl chr15:52,261,217...52,269,964

G

fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284

G

fms related receptor tyrosine kinase 3 ligand

disease_progression

protein:increased expression:serum:

NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

NCBI chr 2:61,699,864...62,080,199
Ensembl chr 2:61,652,236...62,080,059

G

glutathione peroxidase 1

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010

G

glutathione S-transferase pi 1

disease_progression
no_association
treatment

DNA:polymorphism:cds:p.I105V(human)
DNA:polymorphism: :

PMID:17512053 PMID:18061666 PMID:23953887

RGD:10755413 RGD:10755419 RGD:11075094

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr35:24,091,950...24,092,694

G

H2A clustered histone 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr35:23,691,167...23,696,948
Ensembl chr35:23,690,879...23,691,758

G

H3 clustered histone 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr35:23,989,431...23,989,871

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478

G

homeostatic iron regulator

susceptibility

DNA:missense mutation, haplotype:cds:p.C282Y (human)

NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413

G

hexokinase 1

NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

PMID:7686390 PMID:7834632

RGD:11354981 RGD:11520780

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

insulin like growth factor 2 receptor

protein:increased expression:serum,urine:

NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277

G

interleukin 10

disease_progression

DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
protein:increased expression:serum

PMID:11022130 PMID:11307152

RGD:11041888 RGD:11049458

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 1 alpha

DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)

PMID:1777241 PMID:17926179 PMID:25469832

RGD:11049156 RGD:11051973 RGD:11059513

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 1 beta

DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human)

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 1 receptor antagonist

no_association

DNA:repeats:intron:
DNA:snp: :11100C>T (human)

PMID:10848780 PMID:17926179

RGD:11051973 RGD:11522764

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 4 receptor

susceptibility

DNA:SNP: :-228120T>C(rs2107356)(human)

NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300

G

interferon regulatory factor 4

disease_progression
treatment

CTD Direct Evidence: marker/mechanism
DNA:translocation

PMID:10557056 PMID:17690696 PMID:18568025 PMID:21707574

RGD:11526161 RGD:11530019 RGD:11530055

NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339

G

interferon regulatory factor 8

DNA:hypermethylation

NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:44,921,271...44,953,338
Ensembl chr X:44,921,816...44,952,616

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More...

NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More...

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:40,430,096...40,475,193
Ensembl chr 1:40,260,064...40,457,609

G

DNA ligase 4

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis

PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More...

NCBI chr22:56,980,333...56,987,636
Ensembl chr22:56,980,622...56,983,357

G

CD46 molecule, complement regulatory protein-like

protein:increased expression:plasma cell (human)

NCBI chr 7:6,602,762...6,646,561

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

MAF bZIP transcription factor

OMIM:254500

NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111

G

MEFV innate immunity regulator, pyrin

susceptibility

DNA:polymorphisms:cds:p.E148Q,M694V(human)

NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr32:37,653,163...37,679,577
Ensembl chr32:37,653,035...37,678,398

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr15:18,528,755...18,546,303
Ensembl chr15:18,528,772...18,546,531

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr30:8,633,122...8,805,822
Ensembl chr30:8,711,091...8,802,324

G

microRNA mir-155

disease_progression

miRNA:decreased expression:serum

PMID:25497370 PMID:28446295

RGD:21079441 RGD:24922226

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

microRNA mir-17

disease_progression

miRNA:increased expression:plasma cell

NCBI chr22:42,478,013...42,478,071
Ensembl chr22:42,478,000...42,478,083

G

microRNA mir-19a

CTD Direct Evidence: marker/mechanism

NCBI chr22:42,478,298...42,478,355
Ensembl chr22:42,478,285...42,478,366

G

microRNA mir-27a

CTD Direct Evidence: marker/mechanism

NCBI chr20:48,620,556...48,620,615
Ensembl chr20:48,620,556...48,620,615

G

microRNA mir-92a-1

CTD Direct Evidence: marker/mechanism

NCBI chr22:42,478,714...42,478,772

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:39,386,970...39,400,780
Ensembl chr20:39,387,322...39,400,588

G

methylenetetrahydrofolate reductase

DNA:missense mutations:cds:677C>T, 1298A>C (human)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

DNA:polymorphism: :2756A>G(human)

NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

DNA:polymorphism: :66G>A(human)

NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690

G

nuclear receptor corepressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr26:5,352,670...5,493,741
Ensembl chr26:5,331,459...5,493,830

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

NFKB inhibitor alpha

DNA:polymorphism

PMID:12377412 PMID:16540234

RGD:2298895 RGD:2298898

NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

G

non-POU domain containing octamer binding

exacerbates

mRNA:increased expression: (human)

NCBI chr X:55,618,032...55,632,237
Ensembl chr X:55,618,095...55,631,388

G

notch receptor 2

protein:increased expression:bone marrow (human)

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

G

NADPH oxidase 1

protein:increased expression:serum

NCBI chr X:74,784,627...74,811,796
Ensembl chr X:74,785,168...74,811,698

G

NAD(P)H quinone dehydrogenase 1

no_association

DNA:missense mutation:cds:p.P187S (609C>T) (human)
DNA:missense mutation:cds:p.P187S (human)
CTD Direct Evidence: marker/mechanism

PMID:16949155 PMID:18061666 PMID:18156703

RGD:10755419 RGD:10769348

NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860

G

NRAS proto-oncogene, GTPase

treatment

DNA:mutation: :
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More...

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:32,463,845...32,537,425
Ensembl chr10:32,464,123...32,536,650

G

P2Y receptor family member 8

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:1,060,204...1,097,471

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:44,826,037...44,838,449
Ensembl chr20:44,826,339...44,836,558

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

NCBI chr30:37,232,337...37,278,434
Ensembl chr30:37,232,306...37,277,741

G

RNA polymerase I subunit G

sexual_dimorphism

DNA:SNP:exon 1: p.G-21A (rs967591) (human)

NCBI chr 1:110,146,495...110,149,338
Ensembl chr 1:110,146,012...110,149,186

G

paraoxonase 1

treatment
severity
susceptibility

protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)

PMID:15136237 PMID:22348216 PMID:25520116

RGD:10450846 RGD:11040544 RGD:11552578

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

G

PRAME nuclear receptor transcriptional regulator

severity

associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)
CTD Direct Evidence: marker/mechanism

PMID:16179254 PMID:24791872

NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr27:19,781,557...19,795,078
Ensembl chr27:19,781,557...19,795,078

G

RAN binding protein 2

mRNA:increased expression:bone marrow, plasma cell (human)

NCBI chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129

G

RB binding protein 8, endonuclease

exacerbates

mRNA:increased expression:bone marrow, plasma cell (human)

NCBI chr 7:65,218,288...65,319,696
Ensembl chr 7:65,218,297...65,297,099

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

NCBI chr23:35,677,844...35,698,194
Ensembl chr23:35,679,176...35,698,363

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753

G

roundabout guidance receptor 1

ameliorates

NCBI chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:27,086,431...27,196,601
Ensembl chr 1:27,087,361...27,196,521

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

secreted protein acidic and cysteine rich

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:hypermethylation: :

PMID:18172295 PMID:23699600

NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711

G

secreted phosphoprotein 1

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981

G

telomerase reverse transcriptase

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:48,976,510...49,083,454
Ensembl chr17:48,981,558...49,082,675

G

transferrin receptor

treatment

NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242

G

tumor necrosis factor

treatment
no_association

DNA:SNP:promoter:-238G>A (human)
DNA:SNP:promoter:-308G>A (human)

PMID:12200397 PMID:12815949

RGD:10449450 RGD:10449453

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:42,448,976...42,483,792
Ensembl chr 5:42,449,053...42,482,740

G

TNF receptor superfamily member 17

NCBI chr 6:30,842,269...30,846,124
Ensembl chr 6:30,841,152...30,845,905

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355

G

tumor protein p53

treatment
disease_progression

DNA:deletion: :
DNA:polymorphism:cds:p.R72P(human)
protein:increased expression:nucleus:
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 More...

RGD:11073716 RGD:11073728 RGD:11075073

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:14,275,853...14,296,908
Ensembl chr20:14,271,966...14,296,666

G

thymidylate synthetase

no_association
treatment

DNA:repeats:5'UTR:
DNA:polymorphism: :

PMID:17512053 PMID:17655928

RGD:11075094 RGD:11075095

NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr23:10,578,391...11,176,543
Ensembl chr23:10,578,429...11,176,545

G

vascular endothelial growth factor A

susceptibility

DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human)

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

xanthine dehydrogenase

protein:increased expression:serum

NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935

G

exportin 5

severity

DNA:snp:3' utr:c.*659A>C (rs11077) (human)

NCBI chr12:11,983,071...12,034,441
Ensembl chr12:11,983,646...12,034,688

G

X-ray repair cross complementing 3

disease_progression

DNA:SNP,haplotype:: p.T241M (rs861535) (Human)

NCBI chr 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

NCBI chr 3:24,316,598...24,547,463
Ensembl chr 3:24,269,974...24,533,465

G

X-ray repair cross complementing 5

susceptibility

DNA:SNP:3'-UTR (human)

NCBI chr37:23,095,769...23,185,680
Ensembl chr37:23,095,754...23,185,586

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chr24:46,927,218...46,940,015
Ensembl chr24:46,927,848...46,951,949

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:68,539,511...68,572,796
Ensembl chr 8:68,539,353...68,568,058

myelodysplastic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase long chain family member 6

ClinVar Annotator: match by term: ACSL6-related condition

NCBI chr11:20,226,877...20,284,919
Ensembl chr11:20,227,268...20,285,631

G

actin related protein 2/3 complex subunit 1B

treatment

NCBI chr 6:10,192,299...10,198,383
Ensembl chr 6:10,178,462...10,198,309

G

ASXL transcriptional regulator 1

disease_progression
treatment

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 chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815

G

autophagy related 7

OMIM:614286

NCBI chr20:6,916,354...7,154,849
Ensembl chr20:6,916,515...7,154,800

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

BRCA1 associated deubiquitinase 1

OMIM:614286

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613

G

CD40 molecule

protein:increased expression:peripheral blood, monocyte (human)

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

cyclin dependent kinase inhibitor 1B

DNA:deletion: :

NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906

G

cyclin dependent kinase inhibitor 2A

severity

DNA:hypermethylation: :

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

cyclin dependent kinase inhibitor 2B

treatment
disease_progression

DNA:altered methylation: :
DNA:altered methylation:promoter:
DNA:hypermethylation: :
CTD Direct Evidence: marker/mechanism

PMID:17294728 PMID:17611569 PMID:20658957 PMID:23683424

RGD:11251750 RGD:11252169 RGD:11252195

NCBI chr11:41,259,627...41,264,832

G

CASP8 and FADD like apoptosis regulator

CTD Direct Evidence: marker/mechanism

PMID:14562111 PMID:16105982

NCBI chr37:10,268,407...10,307,803
Ensembl chr37:10,268,582...10,345,095

G

CREB binding protein

OMIM:614286

NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

G

colony stimulating factor 3 receptor

disease_progression

Protein:decreased expression:CD34++ cell:
DNA:SNP:cds:p.E785K(human)

PMID:12670333 PMID:15644419

RGD:10450471 RGD:10450504

NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:72,278,939...72,448,907
Ensembl chr 1:72,280,103...72,447,822

G

DEAD-box helicase 41

ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome

PMID:25741868 PMID:26712909 PMID:27133828 PMID:27795557 PMID:28492532 More...

NCBI chr 4:35,854,382...35,859,853
Ensembl chr 4:35,854,597...35,859,852

G

DEAD-box helicase 42

mRNA:decreased expression:bone marrow mononuclear cell (human)

NCBI chr 9:11,737,629...11,774,515
Ensembl chr 9:11,737,430...11,773,625

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:68,961,975...68,970,106
Ensembl chr 8:68,961,744...68,972,761

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029

G

DNA methyltransferase 3 alpha

disease_progression

DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.R882 (human)

PMID:21415852 PMID:22066015 PMID:32431489

RGD:11041122 RGD:11041124

NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902

G

DNA methyltransferase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900

G

early growth response 1

OMIM:614286

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

erythropoietin

CTD Direct Evidence: therapeutic

PMID:12670338 PMID:16076383

NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Myelodysplastic syndrome

PMID:24728327 PMID:25741868 PMID:28492532 PMID:34209587 PMID:36479692

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression

DNA:SNP: :p.K751Q (rs13181) (human)

PMID:25154760 PMID:26482462

RGD:11075607 RGD:11252197

NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125

G

ETS variant transcription factor 6

DNA:translocation: :
DNA:deletion: :

PMID:9171997 PMID:12203785 PMID:18476590

RGD:10450601 RGD:10450605 RGD:1581019

NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

DNA:mutations:multiple (human)
mRNA:increased expression:bone marrow, mononuclear cell (human)
CTD Direct Evidence: marker/mechanism

PMID:20601954 PMID:21125401 PMID:22869879

RGD:10450880 RGD:10450887

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

Fas cell surface death receptor

protein:increased expression:peripheral blood mononuclear cell:
mRNA,protein:increased expression:bone marrow:

PMID:9557605 PMID:15686130

RGD:11049447 RGD:11049448

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

Fas ligand

protein:decreased expression:peripheral blood mononuclear cell:
mRNA,protein:increased expression:bone marrow:

PMID:9557605 PMID:15686130

RGD:11049447 RGD:11049448

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia

NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284

G

GATA binding protein 1

disease_progression
severity

mRNA:increased expression:bone marrow
OMIM:614286
CTD Direct Evidence: marker/mechanism

RGD
MouseDO
CTD

PMID:12145700 PMID:15572684 PMID:17570514 PMID:28963909

RGD:10450734 RGD:10450752 RGD:10450753

NCBI chr X:41,991,321...41,998,319
Ensembl chr X:41,971,582...41,998,303

G

GATA binding protein 2

severity

mRNA:increased expression:bone marrow:
ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes

RGD
OMIM
ClinVar

PMID:4508672 PMID:12145700 PMID:20040766 PMID:21242295 PMID:21670465 More...

NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991

G

growth factor independent 1 transcriptional repressor

mRNA:decreased expression:bone marrow:

NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422

G

G protein subunit beta 1

ClinVar Annotator: match by term: Myelodysplastic syndromes

PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More...

NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295

G

glutathione S-transferase pi 1

susceptibility

DNA:missense mutation:cds:313A>G (p.I105V)(human)

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186

G

homeostatic iron regulator

CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.H63D, p.C282Y (human)

PMID:12624489 PMID:17001480

NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413

G

isocitrate dehydrogenase (NADP(+)) 1

disease_progression

DNA:mutation: :

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelodysplastic syndromes

PMID:20171147 PMID:20847235 PMID:20946881 PMID:21250968 PMID:21596855 More...

NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496

G

interleukin 1 beta

mRNA:increased expression:bone marrow

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Myelodysplasia

PMID:25741868 PMID:28492532

NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643

G

integrin subunit beta 3

NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451

G

lysine methyltransferase 2E (inactive)

NCBI chr18:15,240,631...15,332,850
Ensembl chr18:15,239,994...15,332,828

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

leucine rich repeat containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:731,934...837,092
Ensembl chr 7:731,931...834,893

G

low affinity immunoglobulin gamma Fc region receptor III

NCBI chr38:21,054,870...21,060,948

G

LYL1 basic helix-loop-helix family member

CTD Direct Evidence: marker/mechanism

NCBI chr20:49,109,358...49,113,911

G

macroH2A.1 histone

OMIM:614286

NCBI chr11:23,369,957...23,448,235
Ensembl chr11:23,370,300...23,438,219

G

MDM2 proto-oncogene

no_association

DNA:SNP:cds:309T>G(rs2279744)(human)

NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596

G

MEFV innate immunity regulator, pyrin

susceptibility

DNA:polymorphisms:cds:p.M694V,E148Q(human)

NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

DNA:polymorphism: :66A>G(human)

NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312

G

MYB proto-oncogene like 2

OMIM:614286

NCBI chr24:31,339,570...31,382,626
Ensembl chr24:31,343,997...31,382,624

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

G

nucleophosmin 1

ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia

PMID:15659725 PMID:20026798 PMID:32581362

NCBI chr 4:40,756,464...40,770,174
Ensembl chr 4:40,756,465...40,770,175

G

NAD(P)H quinone dehydrogenase 1

no_association

DNA:missense mutation:cds:609C>T (p.P187S) (human)

NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860

G

NRAS proto-oncogene, GTPase

disease_progression

ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia

PMID:15951308 PMID:23708912 PMID:25741868 PMID:28098151 PMID:28492532 More...

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

phospholipase C beta 1

severity
treatment

mRNA:decreased expression:bone marrow, blood, mononuclear cell (human)
CTD Direct Evidence: marker/mechanism

PMID:16820933 PMID:19805378 PMID:21109771

RGD:11535164 RGD:11535956

NCBI chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539

G

prostate transmembrane protein, androgen induced 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:42,602,608...42,637,569
Ensembl chr24:42,602,595...42,656,209

G

DNA polymerase gamma, catalytic subunit

OMIM:614286

NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544

G

PRAME nuclear receptor transcriptional regulator

mRNA:increased expression:bone marrow, blood (human)

NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112

G

RAP1 GTPase activating protein

mRNA:increased expression:bone marrow, mononuclear cells (human)

NCBI chr 2:77,509,592...77,554,620
Ensembl chr 2:77,527,914...77,544,205

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Myelodysplasia

PMID:18723428 PMID:25741868

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

G

sterile alpha motif domain containing 9 like

OMIM:614286

NCBI chr14:18,643,693...18,665,262
Ensembl chr14:18,643,998...18,648,755

G

splicing factor 3b subunit 1

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

PMID:21909114 PMID:21995386 PMID:25741868 PMID:28492532

NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896

G

solute carrier family 22 member 5

mRNA:decreased expression:PBMCs (human)

NCBI chr11:20,659,023...20,686,359
Ensembl chr11:20,598,888...20,683,087

G

sphingomyelin phosphodiesterase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:81,089,657...81,172,173
Ensembl chr 5:81,142,888...81,172,189

G

sphingosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:4,311,698...4,314,773
Ensembl chr 9:4,311,683...4,314,483

G

serine and arginine rich splicing factor 11

mRNA:splice variant:bone marrow, hematopoietic stem cell (human)

NCBI chr 6:75,473,794...75,495,860
Ensembl chr 6:75,464,957...75,492,103

G

serine and arginine rich splicing factor 2

DNA:missense mutations:cds:multiple (human)
OMIM:614286

NCBI chr 9:4,028,414...4,032,371
Ensembl chr 9:4,028,482...4,030,793

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

NCBI chr X:95,397,174...95,532,716
Ensembl chr X:95,396,870...95,531,133

G

telomerase reverse transcriptase

severity

ClinVar Annotator: match by term: Myelodysplasia

PMID:19270495 PMID:25741868 PMID:28492532 PMID:29463756 PMID:33718801

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

tet methylcytosine dioxygenase 2

severity

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

NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

tumor necrosis factor

disease_progression

protein:increased expression:serum
mRNA:increased expression:bone marrow

PMID:10697556 PMID:15888251

RGD:10450530 RGD:10450881

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

tumor protein p53

treatment
disease_progression
no_association

DNA:mutations: :
CTD Direct Evidence: marker/mechanism
DNA:mutation: :
DNA:SNP:cds: p.R72P(rs1042522)(human)

PMID:22668018 PMID:24043769 PMID:24836762 PMID:25412846 PMID:25573287 More...

RGD:11057925 RGD:11073714 RGD:11073729 RGD:11073731 RGD:11075071

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

U2 small nuclear RNA auxiliary factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr31:37,263,265...37,276,710

G

X-ray repair cross complementing 1

no_association

DNA:SNP: :p.R194W, p.R399Q (human)
DNA:SNP: :p.R280H (human)

NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

G

zinc finger protein, FOG family member 2

NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322

G

zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2

CTD Direct Evidence: marker/mechanism
DNA:missense mutations:multiple (human)
DNA:missense mutation:multiple (human)

PMID:22343920 PMID:25586593 PMID:27992414 PMID:28220884 PMID:28942350

RGD:151232290 RGD:151232291 RGD:151232292 RGD:151347177

NCBI chr X:12,046,163...12,073,617
Ensembl chr X:12,046,921...12,073,440

myelodysplastic/myeloproliferative neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

death inducer-obliterator 1

NCBI chr24:46,691,117...46,735,117
Ensembl chr24:46,692,605...46,724,505

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:20601953 PMID:24218139

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

DNA:mutations: :
DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human)

PMID:21712540 PMID:23619563

RGD:11038705 RGD:11038768

NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815

G

autophagy related 2B

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 8:65,039,960...65,110,811
Ensembl chr 8:65,044,194...65,110,796

G

B9 domain containing 2

treatment

mRNA:increased expression:spleen,bone marrow:
protein:increased expression:plasma,bone marrow:

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

bradykinin receptor B1

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 8:65,017,655...65,028,899

G

bradykinin receptor B2

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407

G

chromosome 8 C14orf132 homolog

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 8:64,813,713...64,861,449
Ensembl chr 8:64,813,303...64,855,348

G

calreticulin

ClinVar Annotator: match by term: CALR-related condition | ClinVar Annotator: match by term: Primary myelofibrosis

PMID:24325356 PMID:24325359 PMID:25741868 PMID:28492532

NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245

G

ERCC excision repair 1, endonuclease non-catalytic subunit

NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

DNA:polymorphism: :p.K751Q (rs13181) (human)

NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

CTD Direct Evidence: marker/mechanism
DNA:mutations:exons, introns:multiple (human)

PMID:20601953 PMID:21921040

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:multiple:

NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284

G

fms related receptor tyrosine kinase 3 ligand

protein:increased expression:plasma, CD34+ cell, bone marrow fibroblast:

NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708

G

GATA binding protein 1

OMIM:254450

NCBI chr X:41,991,321...41,998,319
Ensembl chr X:41,971,582...41,998,303

G

GSK3B interacting protein

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 8:65,110,659...65,131,205
Ensembl chr 8:65,111,414...65,129,622

G

homeostatic iron regulator

no_association
susceptibility

DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)
DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)

NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413

G

insulin like 6

ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis

PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More...

NCBI chr 1:93,457,854...93,474,777
Ensembl chr 1:93,459,945...93,474,793

G

Janus kinase 2

treatment

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...

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

lysine methyltransferase 2A

exacerbates

DNA:mutations:multiple (human)

NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Myelofibrosis with myeloid metaplasia | ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis

PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 More...

NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350

G

MYB proto-oncogene, transcription factor

OMIM:254450

NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969

G

nuclear receptor corepressor 2

OMIM:254450

NCBI chr26:5,352,670...5,493,741
Ensembl chr26:5,331,459...5,493,830

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis

PMID:15705783 PMID:20404132 PMID:21990094 PMID:24777453 PMID:25741868 More...

NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:25741868 PMID:26936507 PMID:32581362

NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Primary myelofibrosis

G

tumor protein p53

disease_progression

associated with Myelodysplastic Syndromes;

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

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

rabenosyn, RAB effector

ClinVar Annotator: match by term: MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES

NCBI chr20:5,157,758...5,197,740
Ensembl chr20:5,157,923...5,197,822

Myeloid Leukemia, Accelerated Phase

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613

G

microRNA mir-150

miRNA:decreased expression:leukocytes

NCBI chr 1:106,998,756...106,998,812
Ensembl chr 1:106,998,756...106,998,812

Myeloid Leukemia, Chronic-Phase

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

disease_progression

DNA:hypermethylation:promoter

PMID:11559572 PMID:19344397

RGD:11038809 RGD:11038811

NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307

G

BCR activator of RhoGEF and GTPase

disease_progression

NCBI chr26:27,856,280...27,980,923
Ensembl chr26:27,856,082...27,978,318

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs11615 (human)

NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602

G

growth factor independent 1 transcriptional repressor

disease_progression

mRNA,protein:increased expression:mononuclea cell, CD34+ cell

PMID:19887785 PMID:23411466

RGD:11040457 RGD:11040461

NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812

myeloid neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)

NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043

G

autophagy related 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 8:65,039,960...65,110,811
Ensembl chr 8:65,044,194...65,110,796

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr26:27,856,280...27,980,923
Ensembl chr26:27,856,082...27,978,318

G

calreticulin

CTD Direct Evidence: marker/mechanism

NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245

G

Cbl proto-oncogene

disease_progression

ClinVar Annotator: match by term: Myeloproliferative disorder
DNA:mutations:exons:

PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More...

RGD:11038798 RGD:11038808

NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, plasma membrane

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Myeloproliferative disorder

PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 More...

NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902

G

early growth response 1

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

coagulation factor III, tissue factor

treatment

NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607

G

fibroblast growth factor receptor 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:12969958 PMID:15448205 PMID:21936542 PMID:22875613

RGD:11352309 RGD:11352667

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

FGFR1 oncogene partner 2

CTD Direct Evidence: marker/mechanism

NCBI chr27:20,672,166...20,704,530
Ensembl chr27:20,674,552...20,704,498

G

fms related receptor tyrosine kinase 3

NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284

G

growth factor independent 1 transcriptional repressor

NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812

G

glutathione peroxidase 1

DNA:polymorphism: :p.P198L (human)

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

GSK3B interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:65,110,659...65,131,205
Ensembl chr 8:65,111,414...65,129,622

G

heat shock protein family A (Hsp70) member 5

NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257

G

insulin like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

insulin like 6

ClinVar Annotator: match by term: Myeloproliferative disorder

PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More...

NCBI chr 1:93,457,854...93,474,777
Ensembl chr 1:93,459,945...93,474,793

G

interferon regulatory factor 4

NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339

G

interferon regulatory factor 8

NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179

G

Janus kinase 2

severity
no_association

DNA:missense mutation:cds:p.V617F (human)
ClinVar Annotator: match by term: Myeloproliferative disorder
DNA:SNP:intron: (rs12342421) (human)

PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More...

RGD:10449376 RGD:10449393

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

KRAS proto-oncogene, GTPase

DNA:missense mutation: :p.G12D (mouse)

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

MDS1 and EVI1 complex locus

CTD Direct Evidence: marker/mechanism
DNA:translocation: :

PMID:9044825 PMID:29047144

NCBI chr34:33,747,495...34,299,389
Ensembl chr34:33,748,843...34,299,276

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350

G

methylenetetrahydrofolate reductase

DNA:SNPs: :677C>T, 1298A>C (human)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

nucleophosmin 1

DNA:insertion mutation:cds:c.854_857dupTCTG(mouse)

NCBI chr 4:40,756,464...40,770,174
Ensembl chr 4:40,756,465...40,770,175

G

NAD(P)H quinone dehydrogenase 1

NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860

G

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

NCBI chr35:3,294,776...3,315,438
Ensembl chr35:3,294,850...3,312,836

G

NRAS proto-oncogene, GTPase

disease_progression

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

RUNX family transcription factor 1

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

zinc finger MYM-type containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:18,040,081...18,158,241
Ensembl chr25:18,050,995...18,156,980

myeloproliferative disorder with eosinophilia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia

PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 More...

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

myeloproliferative neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815

G

colony stimulating factor 3 receptor

NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882

G

cut like homeobox 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm

NCBI chr 6:7,820,154...8,108,236
Ensembl chr 6:7,820,764...8,195,631

G

DEAD-box helicase 41

susceptibility

ClinVar Annotator: match by term: DDX41-related condition | ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to

PMID:9536098 PMID:17576681 PMID:25741868 PMID:25920683 PMID:26712909 More...

NCBI chr 4:35,854,382...35,859,853
Ensembl chr 4:35,854,597...35,859,852

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060

G

inositol-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:35101336

NCBI chr 7:38,253,257...38,346,400
Ensembl chr 7:38,253,407...38,343,345

G

Janus kinase 2

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

neurofibromin 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:10678181 PMID:23460398 PMID:27069254 PMID:28492532 PMID:29872168 More...

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

notch receptor 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 More...

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:22703879 PMID:22718859 PMID:24728327 PMID:25741868 PMID:28492532 More...

NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278

G

platelet derived growth factor receptor beta

DNA:translocation: :

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

transcription factor 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981

G

tet methylcytosine dioxygenase 2

DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human)

NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536

myopathy, lactic acidosis, and sideroblastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1 like

ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957

G

pseudouridine synthase 1

ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr26:955,413...965,561
Ensembl chr26:955,462...966,155

G

tyrosyl-tRNA synthetase 2

ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr27:16,139,462...16,162,701
Ensembl chr27:16,139,499...16,161,147

myopathy, lactic acidosis, and sideroblastic anemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pseudouridine synthase 1

ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition

PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 More...

NCBI chr26:955,413...965,561
Ensembl chr26:955,462...966,155

myopathy, lactic acidosis, and sideroblastic anemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1 like

ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2

PMID:25741868 PMID:28492532

NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957

G

tyrosyl-tRNA synthetase 2

ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 | ClinVar Annotator: match by term: YARS2-related condition

PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 More...

NCBI chr27:16,139,462...16,162,701
Ensembl chr27:16,139,499...16,161,147

myopathy, lactic acidosis, and sideroblastic anemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded ATP synthase membrane subunit 6

ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3

PMID:25037980 PMID:27812026 PMID:29350304

NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644

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 proto-oncogene

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

PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More...

NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:14991917 More...

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

paroxysmal nocturnal hemoglobinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

protein:increased processing:erythrocyte

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

complement C5

ClinVar Annotator: match by term: Eculizumab, poor response to

PMID:7730648 PMID:19414197 PMID:23371790 PMID:24521109 PMID:25534848 More...

NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851

G

C-X-C motif chemokine receptor 4

treatment

NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740

G

major histocompatibility complex, class II, DQ beta 1

DNA:polymorphism, haplotype

NCBI chr12:2,305,307...2,307,711

G

phosphatidylinositol glycan anchor biosynthesis class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria

PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More...

NCBI chr X:11,570,327...11,583,401

G

phosphatidylinositol glycan anchor biosynthesis class T

CTD Direct Evidence: marker/mechanism

NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168

Paroxysmal Nocturnal Hemoglobinuria 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

PMID:2915993 PMID:24706016 PMID:25741868 PMID:28492532 PMID:29159939 More...

NCBI chr X:11,570,327...11,583,401

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168

Paroxysmal Nocturnal Hemoglobinuria 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2

PMID:23733340 PMID:25741868 PMID:28492532

NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

telomerase reverse transcriptase

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

polycythemia vera

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Polycythemia rubra vera

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

BCL2 like 1

protein:increased expression:bone marrow, erythroid cell (human)

NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

elastase, neutrophil expressed

protein:increased expression:plasma:

PMID:12186827 PMID:18768782

RGD:10450556 RGD:10450557

NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932

G

erythropoietin receptor

mRNA:decreased expression:blood cell:

NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752

G

homeostatic iron regulator

susceptibility
no_association

DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)
DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)

NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413

G

insulin like 6

ClinVar Annotator: match by term: Polycythemia rubra vera | ClinVar Annotator: match by term: Polycythemia vera

PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More...

NCBI chr 1:93,457,854...93,474,777
Ensembl chr 1:93,459,945...93,474,793

G

Janus kinase 2

ClinVar Annotator: match by term: Polycythemia rubra vera | ClinVar Annotator: match by term: Polycythemia vera

PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More...

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

hemoglobin subunit alpha-like

CTD Direct Evidence: marker/mechanism

NCBI chr 6:40,324,378...40,325,427

G

hemoglobin subunit beta-like

ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF

PMID:2816924 PMID:11300351 PMID:19429541 PMID:26467025 PMID:31553106

NCBI chr21:28,187,535...28,188,991

Primary Lymphedema with Myelodysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and BTB domain containing 1

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:1,753,031...1,760,424
Ensembl chr20:1,751,718...1,760,419

G

acyl-CoA dehydrogenase family member 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:29,537,049...29,645,338
Ensembl chr23:29,538,555...29,645,176

G

acyl-CoA dehydrogenase family member 9

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More...

NCBI chr20:3,155,754...3,205,307
Ensembl chr20:3,021,167...3,205,279

G

atypical chemokine receptor 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:29,586,250...29,591,627
Ensembl chr23:29,589,767...29,590,819

G

acid phosphatase 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:29,294,641...29,353,970
Ensembl chr23:29,294,843...29,343,499

G

adenylate cyclase 5

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:26,345,617...26,490,120
Ensembl chr33:26,345,617...26,504,616

G

aldehyde dehydrogenase 1 family member L1

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr20:52,722...99,180
Ensembl chr20:61,349...99,160

G

angiomotin like 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:31,147,420...31,165,120
Ensembl chr23:31,148,609...31,162,369

G

anaphase promoting complex subunit 13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:31,241,715...31,249,677
Ensembl chr23:31,241,716...31,249,210

G

asteroid homolog 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:28,233,165...28,244,036
Ensembl chr23:28,231,032...28,243,768

G

ATPase secretory pathway Ca2+ transporting 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr23:28,097,831...28,233,675
Ensembl chr23:28,066,639...28,235,215

G

beaded filament structural protein 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:30,334,080...30,394,202
Ensembl chr23:29,992,021...30,396,840

G

chromosome 20 C3orf22 homolog

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr20:752,614...758,180
Ensembl chr20:753,461...757,115

G

calcium sensing receptor

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559

G

coiled-coil domain containing 14

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:26,958,752...27,009,159
Ensembl chr33:26,959,430...27,009,436

G

CD86 molecule

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087

G

CDV3 homolog

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:30,464,103...30,483,633
Ensembl chr23:30,475,978...30,481,632

G

centrosomal protein 63

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:31,249,517...31,303,145
Ensembl chr23:31,249,673...31,303,142

G

cilia and flagella associated protein 100

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr20:565,571...619,536
Ensembl chr20:587,508...619,545

G

cilia and flagella associated protein 92 (putative)

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:3,096,859...3,157,896
Ensembl chr20:3,097,395...3,157,888

G

coiled-coil-helix-coiled-coil-helix domain containing 6

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr20:871,137...1,120,433

G

carbohydrate sulfotransferase 13

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr20:723,380...746,935

G

CCHC-type zinc finger nucleic acid binding protein

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:2,860,915...2,929,307
Ensembl chr20:2,916,624...2,929,303

G

collagen type VI alpha 5 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr23:27,596,450...27,726,246
Ensembl chr23:27,596,395...27,721,265

G

collagen type VI alpha 6 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr23:27,759,707...27,900,971
Ensembl chr23:27,759,103...27,900,154

G

COPI coat complex subunit gamma 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:2,832,150...2,860,356
Ensembl chr20:2,832,198...2,860,320

G

copine 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:28,621,511...29,077,743
Ensembl chr23:28,622,845...29,077,642

G

cystatin A

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,477,789...25,489,123
Ensembl chr33:25,478,055...25,489,121

G

DnaJ heat shock protein family (Hsp40) member B8

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:2322343 PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 More...

NCBI chr20:2,453,100...2,454,152
Ensembl chr20:2,453,297...2,453,650

G

DnaJ heat shock protein family (Hsp40) member C13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:29,389,120...29,506,339
Ensembl chr23:29,389,979...29,506,343

G

deltex E3 ubiquitin ligase 3L

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,676,686...25,684,270
Ensembl chr33:25,677,076...25,684,175

G

ELL associated factor 2

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,113,348...25,147,064
Ensembl chr33:25,112,570...25,146,692

G

eukaryotic elongation factor, selenocysteine-tRNA specific

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More...

NCBI chr20:2,138,475...2,405,420
Ensembl chr20:2,155,822...2,405,418

G

EF-hand and coiled-coil domain containing 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:3,047,915...3,089,138
Ensembl chr20:3,049,673...3,087,023

G

EPH receptor B1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:31,485,701...31,918,754
Ensembl chr23:31,485,534...31,917,393

G

family with sequence similarity 162 member A

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,525,408...25,552,272
Ensembl chr33:25,525,411...25,552,256

G

F-box protein 40

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:24,841,998...24,899,973
Ensembl chr33:24,880,530...24,897,129

G

follistatin like 1

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:23,892,317...23,914,406
Ensembl chr33:23,894,573...23,933,779

G

GATA binding protein 2

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 More...

NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991

G

golgin B1

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:24,927,631...25,025,187
Ensembl chr33:24,928,729...25,025,090

G

glycoprotein IX platelet

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:3,027,790...3,029,496

G

general transcription factor IIE subunit 1

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:24,107,650...24,207,543
Ensembl chr33:24,151,700...24,186,512

G

H1.10 linker histone

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:2,799,360...2,800,524

G

H1.8 linker histone

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:5,614,822...5,619,136
Ensembl chr20:5,617,001...5,624,352

G

3-hydroxyacyl-CoA dehydratase 2

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:26,530,221...26,643,477
Ensembl chr33:26,533,114...26,637,035

G

hematopoietic cell-specific Lyn substrate 1

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:24,901,023...24,925,710
Ensembl chr33:24,901,287...24,922,923

G

heart development protein with EGF like domains 1

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:27,982,127...28,044,379
Ensembl chr33:27,987,252...28,044,363

G

homogentisate 1,2-dioxygenase

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354

G

5-hydroxymethylcytosine binding, ES cell specific

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:2,808,687...2,831,123
Ensembl chr20:2,808,689...2,830,462

G

HSPB1 associated protein 1

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,803,224...25,868,587
Ensembl chr33:25,803,503...25,868,174

G

intraflagellar transport 122

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:5,644,002...5,716,702
Ensembl chr20:5,644,089...5,715,906

G

interleukin 20 receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:33,384,057...33,421,619
Ensembl chr23:33,384,486...33,420,016

G

immunoglobulin like domain containing receptor 1

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949

G

IQ motif containing B1

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,046,975...25,113,252
Ensembl chr33:25,047,172...25,112,652

G

ISY1 splicing factor homolog

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:2,945,636...2,972,245
Ensembl chr20:2,945,720...2,972,245

G

integrin subunit beta 5

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:27,797,204...27,912,558
Ensembl chr33:27,797,667...27,912,584

G

kalirin RhoGEF kinase

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:27,161,403...27,752,891
Ensembl chr33:27,161,504...27,746,497

G

kelch repeat and BTB domain containing 12

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:1,955,638...2,034,355
Ensembl chr20:1,964,607...2,032,036

G

KLF transcription factor 15

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr20:513,649...524,873
Ensembl chr20:513,622...523,395

G

karyopherin subunit alpha 1

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,561,335...25,631,713
Ensembl chr33:25,566,419...25,631,718

G

kyphoscoliosis peptidase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:31,325,429...31,371,062
Ensembl chr23:31,325,397...31,370,357

G

serotransferrin

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845

G

methyl-CpG binding domain 4, DNA glycosylase

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881

G

minichromosome maintenance complex component 2

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:1,682,928...1,702,689
Ensembl chr20:1,682,886...1,702,366

G

monoglyceride lipase

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:1,765,650...1,880,710
Ensembl chr20:1,766,216...1,943,588

G

mitochondrial matrix import factor 23

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,498,248...25,524,037
Ensembl chr33:25,500,540...25,524,063

G

mitochondrial ribosomal protein L3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:28,566,318...28,605,483
Ensembl chr23:28,563,757...28,605,460

G

MSL complex subunit 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:32,629,120...32,663,885
Ensembl chr23:32,631,804...32,664,277

G

mucin 13, cell surface associated

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:27,926,395...27,951,690
Ensembl chr33:27,926,442...27,958,778

G

myosin light chain kinase

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:26,663,991...26,867,370
Ensembl chr33:26,664,800...26,843,181

G

NCK adaptor protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:33,297,660...33,374,025
Ensembl chr23:33,297,756...33,372,534

G

NADH:ubiquinone oxidoreductase subunit B4

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:24,044,498...24,051,545
Ensembl chr33:24,044,508...24,051,548

G

NIMA related kinase 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:28,244,116...28,496,595
Ensembl chr23:28,247,451...28,442,816

G

nephrocystin 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805

G

nudix hydrolase 16

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:28,498,730...28,500,998
Ensembl chr23:28,498,652...28,499,998

G

oxysterol binding protein like 11

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:28,505,052...28,586,564
Ensembl chr33:28,356,828...28,592,415

G

poly(ADP-ribose) polymerase family member 14

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,763,282...25,798,284
Ensembl chr33:25,763,255...25,798,198

G

poly(ADP-ribose) polymerase family member 15

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,689,618...25,737,179
Ensembl chr33:25,700,353...25,735,540

G

poly(ADP-ribose) polymerase family member 9

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,643,439...25,676,979
Ensembl chr33:25,643,883...25,677,462

G

propionyl-CoA carboxylase subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366

G

protein disulfide isomerase family A member 5

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:26,131,969...26,227,256
Ensembl chr33:26,131,893...26,227,253

G

phosphoinositide-3-kinase regulatory subunit 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr23:27,902,500...27,973,609
Ensembl chr23:27,902,840...27,971,892

G

plexin A1

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:1,143,072...1,186,623
Ensembl chr20:870,870...1,184,321

G

plexin D1

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:5,554,814...5,610,417
Ensembl chr20:5,554,708...5,610,122

G

podocalyxin like 2

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:1,716,672...1,752,872
Ensembl chr20:1,716,666...1,760,035

G

DNA polymerase theta

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:24,713,174...24,837,113
Ensembl chr33:24,714,086...24,837,402

G

protein phosphatase 2 regulatory subunit B''alpha

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:32,441,130...32,628,588
Ensembl chr23:32,471,921...32,626,548

G

RAB43, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:2,979,094...3,020,496
Ensembl chr20:2,978,727...3,011,715

G

RAB6B, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:30,714,723...30,754,765
Ensembl chr23:30,717,062...30,749,188

G

RAB7A, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More...

NCBI chr20:2,704,716...2,776,518
Ensembl chr20:2,704,752...2,826,636

G

RAB, member of RAS oncogene family like 3

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:24,107,754...24,151,378
Ensembl chr33:24,066,306...24,151,354

G

rhodopsin

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:5,630,735...5,638,906

G

rhophilin associated tail protein 1

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:27,021,990...27,056,675

G

ribosomal protein L32

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:5,727,201...5,756,190
Ensembl chr20:5,727,377...5,748,468
Ensembl chr20:5,727,377...5,748,468

G

ribophorin I

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More...

NCBI chr20:2,611,316...2,640,047
Ensembl chr20:2,611,551...2,639,983

G

RuvB like AAA ATPase 1

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More...

NCBI chr20:2,095,807...2,137,528
Ensembl chr20:2,095,786...2,137,579

G

receptor like tyrosine kinase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:30,968,105...31,051,353
Ensembl chr23:30,968,231...31,051,605

G

SEC22 homolog A, vesicle trafficking protein

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:26,266,476...26,336,544
Ensembl chr33:26,267,429...26,333,831

G

SEC61 translocon subunit alpha 1

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More...

NCBI chr20:2,070,739...2,087,790
Ensembl chr20:2,070,248...2,087,789

G

semaphorin 5B

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,971,178...26,041,842
Ensembl chr33:25,970,764...26,091,087

G

solute carrier family 12 member 8

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:28,085,345...28,200,779
Ensembl chr33:28,085,350...28,214,022

G

solute carrier family 15 member 2

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,154,415...25,190,715
Ensembl chr33:25,154,448...25,189,929

G

solute carrier family 35 member G2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:33,250,767...33,294,015
Ensembl chr23:33,290,960...33,292,198

G

solute carrier family 41 member 3

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr20:120,589...211,554
Ensembl chr20:115,011...211,075

G

solute carrier family 49 member 4

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,869,848...25,945,328
Ensembl chr33:25,870,052...25,940,745

G

solute carrier organic anion transporter family member 2A1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:30,797,956...30,877,340
Ensembl chr23:30,797,890...30,877,340

G

sorting nexin 4

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:28,413,586...28,468,546
Ensembl chr33:28,419,128...28,469,488

G

SRP receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:30,687,508...30,711,275
Ensembl chr23:30,687,554...30,710,245

G

STAG1 cohesin complex component

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:32,786,730...33,126,526
Ensembl chr23:32,788,693...33,063,242

G

syntaxin binding protein 5L

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:24,320,625...24,702,782
Ensembl chr33:24,320,650...24,697,153

G

transmembrane and coiled-coil domain family 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:5,352,304...5,525,798
Ensembl chr20:5,348,446...5,545,546

G

transmembrane protein 108

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:29,992,038...30,331,791
Ensembl chr23:29,992,021...30,396,840

G

DNA topoisomerase II binding protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:30,517,172...30,578,664
Ensembl chr23:30,516,125...30,578,108

G

transmembrane protein adipocyte associated 1

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:1,661,980...1,680,111
Ensembl chr20:1,653,855...1,671,666

G

thyrotropin releasing hormone

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532

NCBI chr20:5,219,495...5,222,914
Ensembl chr20:5,219,594...5,222,866

G

thioredoxin reductase 3

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr20:782,653...844,159
Ensembl chr20:782,653...831,351

G

ubiquitin like modifier activating enzyme 5

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr23:29,645,755...29,658,587
Ensembl chr23:29,645,966...29,659,019

G

uridine monophosphate synthetase

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514

G

urocanate hydratase 1

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr20:676,624...717,109
Ensembl chr20:678,073...717,141

G

WD repeat domain 5B

ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr33:25,554,218...25,557,025
Ensembl chr33:25,555,419...25,556,408

G

zinc finger protein 148

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr33:28,229,270...28,347,939
Ensembl chr33:28,233,728...28,348,154

G

ZXD family zinc finger C

ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799

NCBI chr20:619,806...664,089
Ensembl chr20:621,331...651,488

Refractory Anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 5

NCBI chr 9:2,930,308...2,959,307

G

fms related receptor tyrosine kinase 3 ligand

protein:increased expression:serum:

NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708

G

homeostatic iron regulator

no_association

associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)
associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)

NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413

G

transcobalamin 2

protein:increased expression::

NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832

G

telomerase reverse transcriptase

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

Y-box binding protein 1

NCBI chr15:646,301...666,347
Ensembl chr15:646,584...666,329

Refractory Anemia with Excess of Blasts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 5

NCBI chr 9:2,930,308...2,959,307

G

complement C3

disease_progression

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

complement factor B

disease_progression

NCBI chr12:1,400,143...1,406,267

G

telomerase reverse transcriptase

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

tet methylcytosine dioxygenase 2

disease_progression

NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536

sideroblastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

CTD Direct Evidence: marker/mechanism

PMID:16892088 PMID:18398482 PMID:18637800

NCBI chr X:58,305,804...58,470,827
Ensembl chr X:58,306,776...58,471,417

G

aminolevulinate dehydratase

protein:decreased activity:kidney, liver, spleen

NCBI chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321

G

5'-aminolevulinate synthase 2

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:transversion:cds:p.F165L (human)

PMID:7949148 PMID:16716198 PMID:16892088

NCBI chr X:46,703,477...46,731,767
Ensembl chr X:46,703,477...46,723,529

G

calreticulin

DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)

NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr20:44,633,131...44,636,842
Ensembl chr20:44,634,588...44,636,821

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841

G

heat shock protein family A (Hsp70) member 9

CTD Direct Evidence: marker/mechanism

NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia

PMID:9389715 PMID:32906214

NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893

G

pseudouridine synthase 1

ClinVar Annotator: match by term: Sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr26:955,413...965,561
Ensembl chr26:955,462...966,155

G

solute carrier family 25 member 38

CTD Direct Evidence: marker/mechanism

NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:16910769 PMID:21326867

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

transferrin receptor

mRNA,protein:increased expression:erythroblast:

NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242

sideroblastic anemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5'-aminolevulinate synthase 2

onset

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:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)

OMIM
ClinVar
RGD

PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More...

RGD:11035241 RGD:11035243

NCBI chr X:46,703,477...46,731,767
Ensembl chr X:46,703,477...46,723,529

G

apurinic/apyrimidinic endodeoxyribonuclease 2

ClinVar Annotator: match by term: Anemia, sideroblastic, 1

NCBI chr X:46,692,667...46,703,309
Ensembl chr X:46,693,191...46,702,195

G

solute carrier family 25 member 38

ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788

sideroblastic anemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HscB mitochondrial iron-sulfur cluster cochaperone

ClinVar Annotator: match by term: Anemia, sideroblastic, 5

PMID:25741868 PMID:32634119

NCBI chr26:22,103,803...22,120,200
Ensembl chr26:22,103,845...22,120,198

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

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

PMID:2649490 PMID:3333257 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr20:14,275,853...14,296,908
Ensembl chr20:14,271,966...14,296,666

splenic marginal zone lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79b molecule

protein:decreased expression:blood, B cell (human)

NCBI chr 9:11,834,230...11,844,946
Ensembl chr 9:11,842,190...11,844,843

Thrombocythemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More...

NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350

Thrombocythemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin like 6

ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3

PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More...

NCBI chr 1:93,457,854...93,474,777
Ensembl chr 1:93,459,945...93,474,793

G

Janus kinase 2

ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3

PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More...

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

Thrombocytopenia, Anemia, and Myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

megakaryocyte and platelet inhibitory receptor G6b

ClinVar Annotator: match by term: MPIG6B-related condition | ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis

PMID:23112346 PMID:25741868 PMID:27743390 PMID:28492532

NCBI chr12:1,202,297...1,205,867
Ensembl chr12:1,202,721...1,204,655

thrombocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calreticulin

human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human)
CTD Direct Evidence: marker/mechanism

NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245

G

carboxypeptidase B2

NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170

G

erythropoietin receptor

NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856

G

interleukin 1 beta

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

Janus kinase 2

associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F
essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :p.S755R, p.R938Q (human)

PMID:15781101 PMID:19287382 PMID:19287384 PMID:22467227 PMID:24398328

RGD:10449375 RGD:15039391 RGD:1627655

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

protocadherin alpha-5-like

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr 2:35,935,228...35,937,624

G

protocadherin alpha-6

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr 2:35,943,781...36,062,929

G

MPL proto-oncogene, thrombopoietin receptor

DNA:mutation:cds:c.317C > T,p.P106L(human)
CTD Direct Evidence: marker/mechanism

PMID:15813844 PMID:16484586 PMID:19036112

NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350

G

protocadherin alpha 1

ClinVar Annotator: match by term: Thrombocytosis

G

protocadherin alpha 10

ClinVar Annotator: match by term: Thrombocytosis

G

protocadherin alpha 3

ClinVar Annotator: match by term: Thrombocytosis

G

protocadherin alpha 4

ClinVar Annotator: match by term: Thrombocytosis

G

protocadherin alpha 6

ClinVar Annotator: match by term: Thrombocytosis

G

protocadherin alpha 7

ClinVar Annotator: match by term: Thrombocytosis

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204

G

thrombopoietin

susceptibility

DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism

PMID:9694695 PMID:15813844 PMID:33122006

NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033

Thrombocytosis, Benign Familial Microcytic

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:16199547 More...

NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350

transient myeloproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

ClinVar Annotator: match by term: TRANSIENT ABNORMAL MYELOPOIESIS | ClinVar Annotator: match by term: Transient myeloproliferative syndrome

PMID:25741868 PMID:27993330 PMID:28492532

NCBI chr X:41,991,321...41,998,319
Ensembl chr X:41,971,582...41,998,303

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome

PMID:10068652 PMID:12200707 PMID:15156185 PMID:23817177 PMID:28492532

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

X-linked sideroblastic anemia with ataxia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

susceptibility

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...

NCBI chr X:58,305,804...58,470,827
Ensembl chr X:58,306,776...58,471,417

G

5'-aminolevulinate synthase 2

ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia

NCBI chr X:46,703,477...46,731,767
Ensembl chr X:46,703,477...46,723,529

Term paths to the root

Path 1
Term	Annotations
disease	15755
disease of anatomical entity	15375
hematopoietic system disease	3690
bone marrow disease	801
Bone Marrow Neoplasms	473
bone marrow cancer +	473
Path 2
Term	Annotations
disease	15755
disease of anatomical entity	15375
Hemic and Lymphatic Diseases	4165
hematopoietic system disease	3690
Hematologic Neoplasms	1033
Bone Marrow Neoplasms	473
bone marrow cancer +	473

paths to the root