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

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Rat (336) Mouse (384) Human (8720) Chinchilla (269) Bonobo (293) Dog (294) Squirrel (267) Pig (284) Green Monkey (279) Naked Mole-rat (266) All
Genes (313) Strains (13) Cell Lines (10)

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

RGD

NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873

G

autophagy related 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

G

calreticulin

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

Cbl proto-oncogene

disease_progression

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

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

RGD:11038798, RGD:11038808, RGD:11038804

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

CD36 molecule

protein:increased expression:platelet, plasma membrane

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

colony stimulating factor 1 receptor

ClinVar Annotator: match by term: Myeloproliferative disorder

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

early growth response 1

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

ETS variant transcription factor 6

DNA:translocation: :

RGD

NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

RGD

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

coagulation factor III, tissue factor

treatment

RGD

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

Fibroblast growth factor receptor 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

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

RGD:11352309, RGD:11352667

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

FGFR1 oncogene partner 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:179,491,602...179,512,630
Ensembl chr 4:179,491,599...179,512,630

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Myeloproliferative disorder

PMID:8845844 PMID:9438390 PMID:9843049 PMID:11429702 PMID:19088846 More...

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

Fms related receptor tyrosine kinase 3

RGD

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

growth factor independent 1 transcriptional repressor

RGD

NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

RGD

NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942

G

glutathione peroxidase 1

DNA:polymorphism: :p.P198L (human)

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

GSK3B interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100

G

heat shock protein family A (Hsp70) member 5

RGD

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

insulin-like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like 6

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

G

interferon regulatory factor 4

RGD

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

interferon regulatory factor 8

RGD

NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

G

Janus kinase 2

severity
no_association

DNA:SNPs:introns: (rs12343867, rs10974944) (human)
ClinVar Annotator: match by term: Myeloproliferative disorder
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.V617F (human)
DNA:SNP:intron: (rs12342421) (human)

ClinVar
CTD
RGD

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

RGD:10449376, RGD:10449393, RGD:10449376

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

KRAS proto-oncogene, GTPase

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

RGD

NCBI chr 4:178,185,418...178,218,484

G

MDS1 and EVI1 complex locus

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

CTD
RGD

PMID:29047144 PMID:9044825

NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

methylenetetrahydrofolate reductase

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

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

nucleophosmin 1

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

RGD

NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645

G

NAD(P)H quinone dehydrogenase 1

RGD

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

RGD

NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320

G

NRAS proto-oncogene, GTPase

disease_progression

RGD

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

RUNX family transcription factor 1

RGD

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

zinc finger MYM-type containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:31,035,835...31,108,945
Ensembl chr15:31,035,838...31,109,357

Acute Erythroleukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DEAD-box helicase 41

CTD Direct Evidence: marker/mechanism

NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415

G

Fms related receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:bone marrow cell:

RGD

NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942

G

homeo box B9

CTD Direct Evidence: marker/mechanism

NCBI chr10:81,237,312...81,240,818
Ensembl chr10:81,237,312...81,240,818

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181

G

nucleophosmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645

G

nucleoporin 98 and 96 precursor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

atypical chronic myeloid leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

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

NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538

G

Fibroblast growth factor receptor 1

RGD

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

major facilitator superfamily domain containing 11

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

NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064

G

RUNX family transcription factor 1

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

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556

G

serine and arginine rich splicing factor 2

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

NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338

G

tet methylcytosine dioxygenase 2

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

PMID:22905207 PMID:28492532

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

Blast Crisis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation-induced cytidine deaminase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

G

estrogen receptor 2

RGD

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

heme oxygenase 1

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

microRNA 150

miRNA:decreased expression:leukocytes

RGD

NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108

G

transcobalamin 2

protein:increased expression::

RGD

NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489

chronic myelogenous leukemia, BCR-ABL1 positive

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

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

PMID:10988075 PMID:11423618 PMID:11567109 PMID:11569495 PMID:11853795 More...

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

BCR activator of RhoGEF and GTPase

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

PMID:25741868 PMID:28492532

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

G

B-Raf proto-oncogene, serine/threonine kinase

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

PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

colony stimulating factor 3 receptor

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

PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 More...

NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881

G

IKAROS family zinc finger 1

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

NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416

G

insulin-like 6

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

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

NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

G

Janus kinase 2

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

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

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

KIT proto-oncogene receptor tyrosine kinase

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

PMID:16307017 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 More...

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

KRAS proto-oncogene, GTPase

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

PMID:2278970 PMID:3122217 PMID:8439212 PMID:15696205 PMID:16361624 More...

NCBI chr 4:178,185,418...178,218,484

G

NRAS proto-oncogene, GTPase

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

PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:12460918 More...

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

SET binding protein 1

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

PMID:18398855 PMID:18414213 PMID:20436468 PMID:21371013 PMID:23222956 More...

NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556

G

splicing factor 3b, subunit 1

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

PMID:23395771 PMID:25741868

NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300

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 1A

treatment
susceptibility

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

RGD

PMID:24581936 PMID:26250462

RGD:11081178, RGD:11081180

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

ATP binding cassette subfamily C member 2

treatment

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

RGD

NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238

G

ATP binding cassette subfamily G member 2

treatment
susceptibility

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

RGD

PMID:24581936 PMID:24123600 PMID:26250462

RGD:11081178, RGD:11081181, RGD:11081180

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

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
CTD Direct Evidence: marker/mechanism
DNA:gene fusion
DNA:missense mutations: :multiple

ClinVar
CTD
OMIM
RGD

PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 PMID:11861307 More...

RGD:1598673, RGD:13674161, RGD:11038814, RGD:14392796, RGD:11038807

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

ABL proto-oncogene 2, non-receptor tyrosine kinase

RGD

NCBI chr13:68,673,702...68,770,846
Ensembl chr13:68,673,722...68,839,742

G

angiotensin I converting enzyme

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

angiotensinogen

RGD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

AKT serine/threonine kinase 1

protein:increased phosphorylation:blood

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: therapeutic

PMID:19503090 PMID:19823023

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

Bcl2-like 1

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

BCR activator of RhoGEF and GTPase

susceptibility
treatment
disease_progression

DNA:gene fusion
CTD Direct Evidence: marker/mechanism
BCR/ABL fusion
DNA:methylation: :
DNA:translocations:cds:

PMID:15604220 PMID:18673174 PMID:21908430 PMID:33070465 PMID:3101769 More...

RGD:1600510, RGD:41404631, RGD:13674161, RGD:14392796, RGD:11038783, RGD:11038776, RGD:11038775

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

G

baculoviral IAP repeat-containing 5

CTD Direct Evidence: therapeutic

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

basic helix-loop-helix ARNT like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Chronic myelogenous leukemia

PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838

G

caspase 6

treatment

human cells in mouse model

RGD

NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 molecule

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

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

cyclin-dependent kinase inhibitor 1B

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

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

treatment

RGD

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

treatment

RGD

G

cyclin-dependent kinase inhibitor 2A, variant 2

treatment

RGD

G

cysteine and histidine rich domain containing 1

OMIM:608232

NCBI chr 8:15,374,356...15,398,436
Ensembl chr 8:15,374,471...15,399,162

G

CRK like proto-oncogene, adaptor protein

protein:increased phosphorylation:blood

RGD

NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238

G

cryptochrome circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:18,529,823...18,594,091

G

cryptochrome circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965

G

cytochrome P450, family 1, subfamily a, polypeptide 1

treatment

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

RGD

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 3, subfamily a, polypeptide 9

susceptibility
treatment

DNA:polymorphism:intron :6986A>G (human)
DNA:SNP:: (rs776746) (human)

RGD

PMID:21039054 PMID:19584153

RGD:11353798, RGD:11353810

NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422

G

DNA methyltransferase 1

disease_progression

RGD

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 alpha

disease_progression

RGD

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

DNA methyltransferase 3 beta

disease_progression

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

E2F transcription factor 1

mRNA:increased expression:blood

RGD

NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361

G

ERCC excision repair 2, TFIIH core complex helicase subunit

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

RGD

PMID:24955348 PMID:25311495

RGD:11252188, RGD:11060463

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

RGD

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

Fas cell surface death receptor

susceptibility

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

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

susceptibility

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

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

Fc gamma receptor 2A

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

fibroblast growth factor receptor 3

mRNA:increased expression:peripheral blood (human)

RGD

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

GRB2-associated binding protein 2

disease_progression

protein:increased expression:bone marrow

RGD

NCBI chr 1:151,429,844...151,625,708
Ensembl chr 1:151,429,695...151,625,031

G

glutathione peroxidase 1

no_association

DNA:polymorphism: :p.P198L (human)

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

hes family bHLH transcription factor 1

rat gene in a mouse model

RGD

NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192

G

hyaluronan-mediated motility receptor

CTD Direct Evidence: marker/mechanism

NCBI chr10:25,132,933...25,163,029
Ensembl chr10:25,132,977...25,163,060

G

heme oxygenase 1

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

interleukin 10

treatment

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 beta

severity

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

severity

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

insulin-like 6

ClinVar Annotator: match by term: Chronic myelogenous leukemia

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

NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

G

Janus kinase 2

ClinVar Annotator: match by term: Chronic myelogenous leukemia

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

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Chronic myelogenous leukemia

PMID:2278970 PMID:3122217 PMID:8439212 PMID:15696205 PMID:16361624 More...

NCBI chr 4:178,185,418...178,218,484

G

mitogen activated protein kinase 14

CTD Direct Evidence: therapeutic

NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589

G

MDM2 proto-oncogene

onset

DNA:SNP:promoter:rs2279744(human)

RGD

NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915

G

microRNA 150

miRNA:decreased expression:leukocytes

RGD

NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108

G

myeloid leukemia factor 1

RGD

NCBI chr 2:151,648,492...151,681,654
Ensembl chr 2:151,648,511...151,681,652

G

methylenetetrahydrofolate reductase

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

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

nicastrin

OMIM:608232

NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454

G

nucleophosmin 1

RGD

NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645

G

NAD(P)H quinone dehydrogenase 1

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

RGD

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Chronic myelogenous leukemia

PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:12460918 More...

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:serum (human)

RGD

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

period circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431

G

period circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459

G

period circadian regulator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607

G

PRAME like, X-linked 1

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

CTD
RGD

PMID:17157168 PMID:20838376

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

proteinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944

G

RT1 class II, locus Ba

onset

DNA:polymorphism, haplotype

RGD

PMID:17893434 PMID:17387388

RGD:11041777, RGD:11041781

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphism, haplotype

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

SET binding protein 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

PMID:18398855 PMID:18414213 PMID:20436468 PMID:21371013 PMID:23222956 More...

NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556

G

splicing factor 3b, subunit 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

PMID:23395771 PMID:25741868

NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300

G

SH2B adaptor protein 3

OMIM:608232

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

signal-induced proliferation-associated 1

OMIM:608232

NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591

G

SMAD family member 4

mRNA:decreased expression:blood

RGD

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

serine and arginine rich splicing factor 1

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

RGD

NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336

G

signal transducer and activator of transcription 5A

disease_progression
treatment

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

RGD

PMID:16522816 PMID:31952546 PMID:31952546

RGD:151667903, RGD:151667904, RGD:151667904

NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17157168 PMID:15068898

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

transforming growth factor, beta 1

protein:increased expression:serum

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

ubiquitin specific peptidase 15

mRNA, protein:decreased expression:PBMC (human)

RGD

NCBI chr 7:58,756,714...58,848,778
Ensembl chr 7:58,756,872...58,848,721

G

vascular endothelial growth factor A

susceptibility

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

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

G

X-ray repair cross complementing 1

susceptibility

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

RGD

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

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:

RGD

NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538

G

cyclin-dependent kinase inhibitor 2B

DNA:altered methylation:5'UTR:

RGD

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

colony stimulating factor 3 receptor

disease_progression

DNA:mutations:multiples:

RGD

NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

DNA:mutations:multiple (human)

RGD

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

lysine demethylase 6A

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

G

NRAS proto-oncogene, GTPase

onset

RGD

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

tet methylcytosine dioxygenase 2

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

RGD

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

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)

RGD

PMID:24081659 PMID:23604229

RGD:10450482, RGD:10450483

NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881

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 chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903

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 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015

G

bradykinin receptor B1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

bradykinin receptor B2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497

G

similar to human chromosome 14 open reading frame 132

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,365,466...124,398,449

G

calreticulin

severity

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

OMIM
ClinVar
RGD

PMID:24325356 PMID:24325359 PMID:25741868 PMID:24496303 PMID:25860380

RGD:11352751, RGD:11352747

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 ligand

protein:increased expression:serum (human)

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cut-like homeobox 2

ClinVar Annotator: match by term: Thrombocythemia 1

PMID:20404132 PMID:25741868

NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806

G

elastase, neutrophil expressed

protein:increased expression:plasma:

RGD

NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100

G

Janus kinase 2

severity

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

MouseDO
CTD
RGD

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

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

MPL proto-oncogene, thrombopoietin receptor

DNA:missense mutation:cds:pS505N (human)
ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1
mRNA, protein:decreased expression:blood, platelet (human)

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More...

RGD:10449014, RGD:10449016

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

MYB proto-oncogene, transcription factor

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

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

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:23812944 PMID:25741868 PMID:27651169 More...

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

Tcl1 family Akt coactivator A

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

thrombopoietin

ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutation:splice junction:

OMIM
ClinVar
RGD

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

Ensembl chr11:80,182,820...80,188,167

G

TCL1 upstream neural differentiation-associated RNA

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,245,949...124,293,440

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

von Willebrand factor

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

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 chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

Familial Myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

RGD

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Familial myelofibrosis

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

vacuolar protein sorting 45 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295

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

RGD

NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886

G

Rho GTPase activating protein 26

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

OMIM
CTD
ClinVar

NCBI chr18:30,835,806...31,237,945
Ensembl chr18:30,838,671...31,235,194

G

ASXL transcriptional regulator 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:25741868 PMID:26457647 PMID:28492532 PMID:32581362

NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538

G

Cbl proto-oncogene

DNA:mutations:cds:
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD
RGD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18698078 PMID:19387008 More...

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

colony stimulating factor 2

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22315502 PMID:9389708

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

Fms related receptor tyrosine kinase 3

OMIM:607785

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761

G

Janus kinase 3

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23832011 PMID:23832011

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM:607785

CTD
ClinVar
MouseDO

PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More...

NCBI chr 4:178,185,418...178,218,484

G

neurofibromin 1

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM:607785
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 More...

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM:607785
DNA:missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

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

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

Rac family small GTPase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720

G

RAS related

CTD Direct Evidence: marker/mechanism

NCBI chr 1:95,500,582...95,504,362
Ensembl chr 1:95,500,566...95,504,357

G

RAS related 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:168,233,693...168,303,111
Ensembl chr 1:168,233,693...168,303,111

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:23832011 PMID:26457647

NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125

Leukemoid Reaction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Janus kinase 3

ClinVar Annotator: match by term: Leukemoid reaction

PMID:18397343 PMID:20400977 PMID:28492532

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

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

RGD

PMID:26314844 PMID:16917002

RGD:11081075, RGD:11081144

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

angiotensin I converting enzyme

protein:increased activity:serum

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

albumin

disease_progression

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331

G

apolipoprotein E

treatment

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390

G

beta-2 microglobulin

ClinVar Annotator: match by term: Myelomatosis
protein:increased expression:serum

PMID:26619011 PMID:32856850

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

Brca1 associated protein 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265

G

BCL2, apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Bcl2-like 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12429644 PMID:14656874

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

Bcl2-like 10

protein:increased expression:bone marrow :

RGD

NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367

G

BCL6 co-repressor-like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359

G

B-Raf proto-oncogene, serine/threonine kinase

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

PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 More...

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649

G

Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

RGD

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

chromobox 7

susceptibility

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

CTD
RGD

PMID:23955597 PMID:23955597

NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

cellular communication network factor 1

exacerbates

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

RGD

PMID:28035364 PMID:25061178

RGD:329845528, RGD:329845546

NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484

G

cyclin D1

susceptibility

DNA:snp:exon:c.870G>A (rs603965) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO

CTD
ClinVar
OMIM
RGD

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

RGD:1581171, RGD:11353784

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin D2

RGD

NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495

G

cyclin D3

RGD

NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371

G

CD40 molecule

treatment

human cells in a mouse model

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

treatment
disease_progression

protein:increased expression:serum (human)

RGD

PMID:15565183 PMID:22403003 PMID:27243341

RGD:11352240, RGD:11352251, RGD:11352268

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

CD46 molecule

protein:increased expression:plasma cell (human)

RGD

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

CD86 molecule

severity

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

CTD
RGD

PMID:16611307 PMID:22705596

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

cyclin-dependent kinase 4

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 2A

disease_progression

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

CTD
RGD

PMID:16008847 PMID:12681979

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:124,411,123...124,416,278
Ensembl chr 5:124,411,124...124,416,278

G

complement factor H-related 1

treatment

RGD

NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

cereblon

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658

G

cytochrome P450, family 1, subfamily a, polypeptide 1

susceptibility

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

RGD

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 2, subfamily C, polypeptide 6

treatment
no_association

DNA:polymorphisms: :

RGD

PMID:17666363 PMID:20684753

RGD:11352748, RGD:11352804

NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596

G

cytochrome P450, family 2, subfamily d, polypeptide 4

no_association

DNA:polymorphisms: :

RGD

NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759

G

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

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

desmoglein 2

disease_progression

RGD

NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156

G

eukaryotic translation initiation factor 1A, X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335

G

endoglin

severity

protein:increased expression:serum:

RGD

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

G

epoxide hydrolase 1

no_association
susceptibility

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

CTD
RGD

PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996

RGD:11252116, RGD:11252121, RGD:11252122

NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

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)

RGD

PMID:22183071 PMID:17131345

RGD:11252199, RGD:401827277

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

Ets2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388

G

Fas ligand

disease_progression

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107

G

Fc gamma receptor 2A

disease_progression
susceptibility

DNA:polymorphism: :rs1801274(human)

RGD

PMID:25850245 PMID:17315188

RGD:11040778, RGD:11040938

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelomatosis

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

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

fibrinogen gamma chain

treatment

RGD

NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322

G

Fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

Fms related receptor tyrosine kinase 3 ligand

disease_progression

protein:increased expression:serum:

RGD

NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463

G

FTO, alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

RGD

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

glutathione peroxidase 1

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

glutathione S-transferase mu 1

severity
no_association

RGD

PMID:17653713 PMID:15136237

RGD:10450826, RGD:10450846

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

disease_progression
no_association
treatment

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

RGD

PMID:23953887 PMID:18061666 PMID:17512053

RGD:10755413, RGD:10755419, RGD:11075094

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

susceptibility
no_association

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16949155 PMID:15136237 PMID:12624497

RGD:10450846, RGD:10450847

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

H19 imprinted maternally expressed transcript

severity

RNA:decrased expression:blood serum (human)

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403

G

H3 clustered histone 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:41,368,379...41,368,902
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164

G

homeostatic iron regulator

susceptibility

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

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

hexokinase 1

RGD

NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131

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 chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

RGD

PMID:7834632 PMID:7686390

RGD:11354981, RGD:11520780

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Myelomatosis

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelomatosis

PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More...

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

insulin-like growth factor 2 receptor

protein:increased expression:serum,urine:

RGD

NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501

G

interleukin 10

disease_progression

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

RGD

PMID:11307152 PMID:11022130

RGD:11041888, RGD:11049458

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 alpha

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

RGD

PMID:25469832 PMID:17926179 PMID:1777241

RGD:11049156, RGD:11051973, RGD:11059513

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

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

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

no_association

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

RGD

PMID:17926179 PMID:10848780

RGD:11051973, RGD:11522764

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 4 receptor

susceptibility

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

RGD

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757

G

interferon regulatory factor 4

disease_progression
treatment

DNA:translocation
CTD Direct Evidence: marker/mechanism

CTD
RGD

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

RGD:11526161, RGD:11530019, RGD:11530055

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

interferon regulatory factor 8

DNA:hypermethylation

RGD

NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

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 chr 4:178,185,418...178,218,484

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640

G

DNA ligase 4

DNA:polymorphisms
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis

OMIM
CTD
ClinVar
RGD

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

NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040

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 chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

MAF bZIP transcription factor

OMIM:254500

NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303

G

MEFV innate immunity regulator, pyrin

susceptibility

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

RGD

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

MET proto-oncogene, receptor tyrosine kinase

RGD

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043

G

microRNA 155

disease_progression

miRNA:decreased expression:serum

RGD

PMID:25497370 PMID:28446295

RGD:21079441, RGD:24922226

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 17

disease_progression

miRNA:increased expression:plasma cell

RGD

NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712

G

microRNA 19a

CTD Direct Evidence: marker/mechanism

NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993

G

microRNA 27a

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917

G

microRNA 320a

ameliorates

human gene in mouse model

RGD

NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473

G

microRNA 92a-1

CTD Direct Evidence: marker/mechanism

NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455

G

methylenetetrahydrofolate reductase

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

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

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

RGD

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

RGD

NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

MYD88, innate immune signal transduction adaptor

ClinVar Annotator: match by term: Myelomatosis

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

nuclear receptor co-repressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

G

NFKB inhibitor alpha

RGD

PMID:16540234 PMID:12377412

RGD:2298898, RGD:2298895

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791

G

non-POU domain containing, octamer-binding

exacerbates

mRNA:increased expression: (human)

RGD

NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952

G

notch receptor 2

protein:increased expression:bone marrow (human)

RGD

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

NADPH oxidase 1

protein:increased expression:serum

RGD

NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236

G

NAD(P)H quinone dehydrogenase 1

no_association

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

CTD
RGD

PMID:16949155 PMID:18156703 PMID:18061666

RGD:10769348, RGD:10755419

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

NRAS proto-oncogene, GTPase

treatment

DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis

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

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913

G

poly (ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

platelet factor 4

ameliorates

RGD

NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

ClinVar Annotator: match by term: Myelomatosis

PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More...

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

RGD

NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971

G

RNA polymerase I subunit G

sexual_dimorphism

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

RGD

NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766

G

paraoxonase 1

severity
treatment
susceptibility

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

RGD

PMID:25520116 PMID:22348216 PMID:15136237

RGD:11552578, RGD:11040544, RGD:10450846

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

PRAME like, X-linked 1

severity

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

CTD
RGD

PMID:16179254 PMID:24791872

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296

G

psoriasis susceptibility 1 candidate 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599

G

parathyroid hormone-like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Myelomatosis

PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More...

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

RAN binding protein 2

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

RGD

NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481

G

RB binding protein 8, endonuclease

exacerbates

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

RGD

NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

RGD

NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619

G

roundabout guidance receptor 1

ameliorates

RGD

NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203

G

RT1 class I, locus CE16

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563

G

RUNX family transcription factor 1

mRNA:splice variant

RGD

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15908783 PMID:15908783

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

secreted protein acidic and cysteine rich

disease_progression

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

CTD
RGD

PMID:18172295 PMID:23699600

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

G

telomerase reverse transcriptase

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193

G

transferrin receptor

treatment

RGD

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

G

transforming growth factor, beta 1

disease_progression

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

RGD

PMID:23699600 PMID:22560388

RGD:11073605, RGD:11073614

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

tumor necrosis factor

treatment
no_association

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

RGD

PMID:12200397 PMID:12815949

RGD:10449450, RGD:10449453

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 10b

treatment

RGD

NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987

G

TNF receptor superfamily member 17

RGD

NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

G

tumor protein p53

disease_progression
treatment

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

PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More...

RGD:11073716, RGD:11073728, RGD:11075073

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611

G

thymidylate synthetase

treatment
no_association

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

RGD

PMID:17512053 PMID:17655928

RGD:11075094, RGD:11075095

NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924

G

vascular endothelial growth factor A

susceptibility

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

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

xanthine dehydrogenase

protein:increased expression:serum

RGD

NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268

G

exportin 5

severity

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

RGD

NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171

G

X-ray repair cross complementing 3

disease_progression

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

RGD

NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

RGD

NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808

G

X-ray repair cross complementing 5

susceptibility

DNA:SNP:3'-UTR (human)

RGD

NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747

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 chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20601953 PMID:24218139

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

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

RGD

PMID:21712540 PMID:23619563

RGD:11038705, RGD:11038768

NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538

G

autophagy related 2B

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015

G

bradykinin receptor B1

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

bradykinin receptor B2

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497

G

similar to human chromosome 14 open reading frame 132

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,365,466...124,398,449

G

calreticulin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary myelofibrosis
DNA:frameshift mutations:cds:p.L367fs*46, p.K385fs*47 (human)
DNA:mutations:multiple (human)

OMIM
CTD
ClinVar
RGD

PMID:24325356 PMID:24325359 PMID:25741868 PMID:24997152 PMID:25860380

RGD:11352753, RGD:11352747

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

cut-like homeobox 2

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:20404132 PMID:25741868

NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806

G

ERCC excision repair 1, endonuclease non-catalytic subunit

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

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

RGD

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

CTD
RGD

PMID:20601953 PMID:21921040

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

Fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:multiple:

RGD

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

Fms related receptor tyrosine kinase 3 ligand

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

RGD

NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463

G

GATA binding protein 1

OMIM:254450

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

GSK3B interacting protein

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100

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)

RGD

PMID:19258483 PMID:19258483

RGD:10755491, RGD:10755491

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

insulin-like 6

ClinVar Annotator: match by term: Myelofibrosis, somatic

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

NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

G

Janus kinase 2

treatment

idiopathic myelofibrosis, OMIM:254450
ClinVar Annotator: match by term: Myelofibrosis, somatic
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

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

RGD:1627655, RGD:10449377

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

lysine methyltransferase 2A

exacerbates

DOID:4971DNA:mutations:multiple (human)

RGD

NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More...

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

MYB proto-oncogene, transcription factor

OMIM:254450

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

nuclear receptor co-repressor 2

OMIM:254450

NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:20404132 PMID:25741868

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:25741868 PMID:26936507 PMID:32581362

NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476

G

Tcl1 family Akt coactivator A

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025

G

transforming growth factor, beta 1

treatment

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

RGD

PMID:23462118 PMID:23462118 PMID:23462118

RGD:11073609, RGD:11073609, RGD:11073609

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

tumor protein p53

disease_progression

associated with Myelodysplastic Syndromes;

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

TCL1 upstream neural differentiation-associated RNA

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,245,949...124,293,440

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 chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690

G

microRNA 150

miRNA:decreased expression:leukocytes

RGD

NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108

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

RGD

PMID:19344397 PMID:11559572

RGD:11038809, RGD:11038811

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

BCR activator of RhoGEF and GTPase

disease_progression

RGD

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

G

cytochrome P450, family 3, subfamily a, polypeptide 9

treatment

DNA:polymorphism:intron :6986A>G (human)

RGD

NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs11615 (human)

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

growth factor independent 1 transcriptional repressor

disease_progression

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

RGD

PMID:19887785 PMID:23411466

RGD:11040457, RGD:11040461

NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

RGD

NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

myeloproliferative neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538

G

colony stimulating factor 3 receptor

RGD

NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881

G

cut-like homeobox 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm

NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866

G

DEAD-box helicase 41

susceptibility

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

CTD
ClinVar
OMIM

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

NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415

G

ETS variant transcription factor 6

DNA:translocation: :

RGD

NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992

G

inositol-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable | ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to

PMID:25741868 PMID:35101336

NCBI chr13:92,069,160...92,164,281
Ensembl chr13:92,069,216...92,162,004

G

Janus kinase 2

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

Janus kinase 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm

PMID:16843266 PMID:20372971 PMID:20385788 PMID:22271575 PMID:25157968

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

KIT proto-oncogene receptor tyrosine kinase

ClinVar Annotator: match by term: Myeloproliferative neoplasm

PMID:11208730 PMID:11505412 PMID:15837988 PMID:17259998 PMID:19175693 More...

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Myeloproliferative neoplasm

PMID:14764528 PMID:18451306 PMID:18528423 PMID:19483125 PMID:19608689 More...

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

neurofibromin 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

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 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

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 chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

G

platelet derived growth factor receptor beta

DNA:translocation: :

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

transcription factor 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:28492532 PMID:35101336

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

G

tet methylcytosine dioxygenase 2

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

RGD

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

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:15121796 More...

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

telomerase reverse transcriptase

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

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 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

Bcl2-like 1

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

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

elastase, neutrophil expressed

protein:increased expression:plasma:

RGD

PMID:18768782 PMID:12186827

RGD:10450556, RGD:10450557

NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100

G

erythropoietin receptor

mRNA:decreased expression:blood cell:

RGD

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

RGD

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

G

glutathione S-transferase mu 1

susceptibility

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

hemoglobin alpha, adult chain 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392

G

hemoglobin subunit beta

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF

PMID:2816924 PMID:5773089 PMID:11300351 PMID:19429541 PMID:26467025 More...

NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012

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)

RGD

PMID:19258483 PMID:19258483

RGD:10755491, RGD:10755491

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

insulin-like 6

ClinVar Annotator: match by term: Polycythemia rubra vera

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

NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

G

Janus kinase 1

ClinVar Annotator: match by term: Polycythemia rubra vera

PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 More...

NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926

G

Janus kinase 2

ClinVar Annotator: match by term: Polycythemia rubra vera
OMIM:263300
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

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

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

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:11133753 PMID:14764528 PMID:15269348 PMID:16199547 More...

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

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 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

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 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

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: Thrombocytopenia, anemia, and myelofibrosis
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:23112346 PMID:25741868 PMID:27743390 PMID:28492532

NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735

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

CTD
RGD

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

carboxypeptidase B2

RGD

NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556

G

erythropoietin receptor

RGD

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

G

interleukin 1 beta

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

Janus kinase 2

essential thrombocythemia, OMIM:187950
associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :p.S755R, p.R938Q (human)

CTD
RGD

PMID:19287382 PMID:19287384 PMID:15781101 PMID:22467227 PMID:24398328

RGD:1627655, RGD:15039391, RGD:10449375

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

MPL proto-oncogene, thrombopoietin receptor

DNA:mutation:cds:c.317C > T,p.P106L(human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15813844 PMID:16484586 PMID:19036112

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

protocadherin alpha 1

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 10

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 2

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 3

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 4

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 5

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 6

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 7

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 8

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 9

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

thrombopoietin

susceptibility

DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15813844 PMID:33122006 PMID:9694695

Ensembl chr11:80,182,820...80,188,167

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:11133753 PMID:16199547 PMID:16470591 PMID:18090929 More...

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

transient myeloproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Transient myeloproliferative syndrome

CTD
OMIM
ClinVar
RGD

PMID:24056718 PMID:27993330 PMID:14636651

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

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 chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

Term paths to the root

Path 1
Term	Annotations
disease	18969
disease of cellular proliferation	7691
cancer	5508
organ system cancer	5262
hematologic cancer	1050
bone marrow cancer	509
myeloid neoplasm	326
Leukemoid Reaction +	3
Myeloproliferative Disease, Autosomal Recessive	0
Therapy-Related Myeloid Neoplasm	0
chronic myeloid leukemia +	92
chronic neutrophilic leukemia	1
erythroleukemia +	25
multiple myeloma +	172
myelodysplastic/myeloproliferative neoplasm +	30
myelofibrosis +	29
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 +	0
myelophthisic anemia	0
myeloproliferative neoplasm +	50
thrombocytosis +	37
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
Hemic and Lymphatic Diseases	3849
hematopoietic system disease	3339
Hematologic Neoplasms	1050
Bone Marrow Neoplasms	509
bone marrow cancer	509
myeloid neoplasm	326
Leukemoid Reaction +	3
Myeloproliferative Disease, Autosomal Recessive	0
Therapy-Related Myeloid Neoplasm	0
chronic myeloid leukemia +	92
chronic neutrophilic leukemia	1
erythroleukemia +	25
multiple myeloma +	172
myelodysplastic/myeloproliferative neoplasm +	30
myelofibrosis +	29
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 +	0
myelophthisic anemia	0
myeloproliferative neoplasm +	50
thrombocytosis +	37

paths to the root