Bone Marrow Neoplasms - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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

show annotations for term's descendants Sort by:
Rat (515) Mouse (591) Human (13579) Chinchilla (440) Bonobo (476) Dog (473) Squirrel (436) Pig (464) Green Monkey (461) Naked Mole-rat (436) All
Genes (492) Strains (13) Cell Lines (10)

Bone Marrow Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603

G

tumor protein p53

disease_progression

RGD

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

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 chr17:9,108,030...9,113,562
Ensembl chr17:9,103,010...9,108,415

G

Fms related receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:bone marrow cell:

RGD

NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:11,940,233...11,952,942

G

homeo box B9

CTD Direct Evidence: marker/mechanism

NCBI chr10:81,733,857...81,737,363
Ensembl chr10:81,237,312...81,240,818

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181

G

nucleophosmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:18,245,739...18,255,913
Ensembl chr10:17,739,941...17,751,645
Ensembl chr X:17,739,941...17,751,645

G

nucleoporin 98 and 96 precursor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:165,906,405...166,003,366
Ensembl chr 1:156,494,423...156,591,415

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

alpha-thalassemia myelodysplasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr X:74,916,548...75,062,880
Ensembl chr X:70,850,981...70,997,330

AMED syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alcohol dehydrogenase 5 (class III), chi polypeptide

ClinVar Annotator: match by term: AMED syndrome, digenic

PMID:25741868 PMID:33355142

NCBI chr 2:229,648,557...229,660,964
Ensembl chr 2:226,947,466...226,987,591

G

aldehyde dehydrogenase 2 family member

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

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

NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521

atypical chronic myeloid leukemia, BCR-ABL1 negative

term browser

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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 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538

G

Fibroblast growth factor receptor 1

RGD

NCBI chr16:73,194,631...73,249,855
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 chr10:102,554,409...102,573,866
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 chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:74,465,616...74,827,455
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 chr10:102,550,962...102,554,200
Ensembl chr10:102,052,314...102,055,338

G

tet methylcytosine dioxygenase 2

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

PMID:22905207 PMID:28492532

NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534

autosomal dominant sideroblastic anemia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heat shock protein family A (Hsp70) member 9

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

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

NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,535,798...26,554,292

autosomal recessive pyridoxine-refractory sideroblastic anemia 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:129,752,902...129,763,278
Ensembl chr 6:123,988,134...123,998,545

G

solute carrier family 25, member 38

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive

OMIM
CTD
ClinVar

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

NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332

autosomal recessive pyridoxine-refractory sideroblastic anemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin 5

ClinVar Annotator: match by term: Sideroblastic anemia 3

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

NCBI chr 6:129,752,902...129,763,278
Ensembl chr 6:123,988,134...123,998,545

Autosomal Sideroblastic Anemia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arylsulfatase A

ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia

NCBI chr 7:122,422,971...122,426,971
Ensembl chr 7:120,543,362...120,548,783

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 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016

G

estrogen receptor 2

RGD

NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919

G

heme oxygenase 1

RGD

NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079

G

microRNA 150

miRNA:decreased expression:leukocytes

RGD

NCBI chr 1:104,741,487...104,741,571
Ensembl chr 1:95,605,024...95,605,108

G

transcobalamin 2

protein:increased expression::

RGD

NCBI chr14:83,036,935...83,052,187
Ensembl chr14:78,813,343...78,828,489

Bone Marrow Failure Syndrome 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal recognition particle 72

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

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

NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729

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:12130516 PMID:25686603 PMID:25741868 More...

NCBI chr 3:35,377,587...35,480,843
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 chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016

G

IKAROS family zinc finger 1

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

NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416

G

KRAS proto-oncogene, GTPase

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

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

NCBI chr 4:179,916,255...179,949,613

G

NRAS proto-oncogene, GTPase

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

NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626

G

splicing factor 3b, subunit 1

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

NCBI chr 9:63,986,829...64,026,723
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 4:26,312,403...26,488,456
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 1:252,613,875...252,672,459
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 4:89,006,056...89,132,915
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:12663457 More...

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

NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065

G

ABL proto-oncogene 2, non-receptor tyrosine kinase

RGD

NCBI chr13:71,223,902...71,319,770
Ensembl chr13:68,673,722...68,839,742

G

angiotensin I converting enzyme

RGD

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

angiotensinogen

RGD

NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977

G

AKT serine/threonine kinase 1

protein:increased phosphorylation:blood

RGD

NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: therapeutic

PMID:19503090 PMID:19823023

NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743

G

Bcl2-like 1

RGD

NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479

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 chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016

G

baculoviral IAP repeat-containing 5

CTD Direct Evidence: therapeutic

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

basic helix-loop-helix ARNT like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:176,766,222...176,864,741
Ensembl chr 1:167,331,633...167,430,231

G

carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838

G

caspase 6

treatment

human cells in mouse model

RGD

NCBI chr 2:221,140,287...221,152,727
Ensembl chr 2:218,466,076...218,478,502

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903

G

CD40 molecule

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

RGD

NCBI chr 3:174,209,113...174,224,592
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 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

treatment

RGD

NCBI chr 5:109,100,763...109,114,448
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 8:23,650,721...23,674,786
Ensembl chr 8:15,374,471...15,399,162

G

CRK like proto-oncogene, adaptor protein

protein:increased phosphorylation:blood

RGD

NCBI chr11:97,033,033...97,067,457
Ensembl chr11:83,526,530...83,563,238

G

cryptochrome circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:20,417,526...20,481,791
Ensembl chr 7:18,529,823...18,594,091

G

cryptochrome circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:98,830,479...98,860,437
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 8:66,991,940...66,998,014
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 chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422

G

DNA methyltransferase 1

disease_progression

RGD

NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 alpha

disease_progression

RGD

NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687

G

DNA methyltransferase 3 beta

disease_progression

RGD

NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124

G

E2F transcription factor 1

mRNA:increased expression:blood

RGD

NCBI chr 3:163,524,739...163,535,563
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 1:88,161,342...88,175,102
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 4:77,624,223...77,698,598
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 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

susceptibility

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

RGD

NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215

G

Fc gamma receptor 2A

RGD

NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967

G

fibroblast growth factor receptor 3

mRNA:increased expression:peripheral blood (human)

RGD

NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341

G

GRB2-associated binding protein 2

disease_progression

protein:increased expression:bone marrow

RGD

NCBI chr 1:160,841,066...161,036,940
Ensembl chr 1:151,429,695...151,625,031

G

glutathione peroxidase 1

no_association

DNA:polymorphism: :p.P198L (human)

RGD

NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226

G

hes family bHLH transcription factor 1

rat gene in a mouse model

RGD

NCBI chr11:84,210,632...84,213,045
Ensembl chr11:70,705,764...70,708,192

G

hyaluronan-mediated motility receptor

CTD Direct Evidence: marker/mechanism

NCBI chr10:25,635,249...25,665,389
Ensembl chr10:25,132,977...25,163,060

G

heme oxygenase 1

RGD

NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891

G

interleukin 10

treatment

RGD

NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 beta

severity

RGD

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

severity

RGD

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

mitogen activated protein kinase 14

CTD Direct Evidence: therapeutic

NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,749,670...6,810,589

G

MDM2 proto-oncogene

onset

DNA:SNP:promoter:rs2279744(human)

RGD

NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915

G

microRNA 150

miRNA:decreased expression:leukocytes

RGD

NCBI chr 1:104,741,487...104,741,571
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 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797

G

nicastrin

OMIM:608232

NCBI chr13:87,062,827...87,078,839
Ensembl chr13:84,530,440...84,546,454

G

nucleophosmin 1

RGD

NCBI chr10:18,245,739...18,255,913
Ensembl chr10:17,739,941...17,751,645
Ensembl chr X:17,739,941...17,751,645

G

NAD(P)H quinone dehydrogenase 1

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

RGD

NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:serum (human)

RGD

NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116

G

period circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,299,002...54,313,804
Ensembl chr10:53,805,535...53,814,431

G

period circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:99,454,828...99,497,069
Ensembl chr 9:92,007,296...92,049,459

G

period circadian regulator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:166,740,914...166,778,243
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:102,862,457...102,867,725
Ensembl chr X:98,569,415...98,572,096

G

proteinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:10,472,750...10,482,037
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 chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphism, haplotype

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

splicing factor 3b, subunit 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

NCBI chr 9:63,986,829...64,026,723
Ensembl chr 9:56,492,403...56,532,300

G

SH2B adaptor protein 3

OMIM:608232

NCBI chr12:40,391,755...40,414,336
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 chr18:69,518,988...69,549,684
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 chr10:73,335,519...73,342,549
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 chr10:86,285,859...86,310,187
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 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

transforming growth factor, beta 1

protein:increased expression:serum

RGD

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

ubiquitin specific peptidase 15

mRNA, protein:decreased expression:PBMC (human)

RGD

NCBI chr 7:60,643,611...60,805,137
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 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:112,019,721...112,068,454
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 1:89,268,721...89,296,619
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 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538

G

cyclin-dependent kinase inhibitor 2B

DNA:altered methylation:5'UTR:

RGD

NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050

G

colony stimulating factor 3 receptor

disease_progression

DNA:mutations:multiples:

RGD

NCBI chr 5:143,583,126...143,604,382
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 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362

G

lysine demethylase 6A

NCBI chr X:6,920,374...7,060,027
Ensembl chr X:4,337,750...4,477,062

G

NRAS proto-oncogene, GTPase

onset

RGD

NCBI chr 2:193,271,399...193,282,023
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 2:224,662,654...224,746,819
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 5:143,583,126...143,604,382
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 6:31,012,091...31,035,098
Ensembl chr 6:25,292,133...25,319,861

G

dihydroorotate dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr19:54,460,636...54,483,049
Ensembl chr19:37,558,177...37,591,654

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr11:80,311,269...80,321,678
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 6:130,286,979...130,357,109
Ensembl chr 6:124,525,523...124,592,015

G

bradykinin receptor B1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747

G

bradykinin receptor B2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:130,237,055...130,267,205
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 chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903

G

CD40 ligand

protein:increased expression:serum (human)

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

elastase, neutrophil expressed

protein:increased expression:plasma:

RGD

NCBI chr 7:10,467,877...10,469,725
Ensembl chr 7:9,817,252...9,819,100

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:130,357,241...130,373,221
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 1:236,408,905...236,468,769
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:15269348 More...

RGD:10449014, RGD:10449016

NCBI chr 5:137,259,288...137,281,540
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 1:17,759,309...17,793,306
Ensembl chr 1:15,939,761...15,973,057

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,759,366...20,780,337
Ensembl chr12:15,645,541...15,666,497

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:113,419,882...113,438,343
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:21990094 PMID:23812944 PMID:24777453 More...

NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616

G

Tcl1 family Akt coactivator A

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:129,889,763...129,895,756
Ensembl chr 6:124,125,032...124,131,025

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:90,324,312...90,340,627
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

transmembrane neural differentiation associated intracellular calcium regulator

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:130,011,067...130,058,157

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

RGD

NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958

G

von Willebrand factor

RGD

NCBI chr 4:160,042,900...160,177,757
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 chr19:65,699,284...65,721,066
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:17,193,291...17,209,462
Ensembl chr X:14,529,702...14,537,530

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Familial myelofibrosis

NCBI chr12:40,391,755...40,414,336
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

Ghosal hematodiaphyseal syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thromboxane A synthase 1

ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome | ClinVar Annotator: match by term: TBXAS1-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 4:68,631,841...68,803,959
Ensembl chr 4:67,665,007...67,837,096

HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucyl-tRNA synthetase 2, mitochondrial

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

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

NCBI chr 8:131,887,728...131,983,866
Ensembl chr 8:123,010,293...123,106,395

Hypochromic Microcytic Anemia with Iron Overload 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 11 member 2

ClinVar Annotator: match by term: SLC11A2-related condition

PMID:25741868 PMID:28492532 PMID:35457224

NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:131,503,081...131,540,145

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 1:43,135,515...43,225,245
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 chr18:30,702,602...31,489,047
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:20880116 PMID:21576631 PMID:21881046 PMID:22031865 PMID:22058207 More...

NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538

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:17446348 PMID:17576681 PMID:18698078 More...

NCBI chr 8:53,384,656...53,468,067
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 chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,507,316...32,621,678
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 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362

G

Fms related receptor tyrosine kinase 3

OMIM:607785

NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:122,211,501...122,225,058
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 chr16:18,418,807...18,432,515
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:1875403 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 More...

NCBI chr 4:179,916,255...179,949,613

G

neurofibromin 1

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

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658

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 2:193,271,399...193,282,023
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 chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925

G

Rac family small GTPase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:111,981,825...112,009,201
Ensembl chr 7:110,116,260...110,128,720

G

RAS related

CTD Direct Evidence: marker/mechanism

NCBI chr 1:104,637,061...104,640,841
Ensembl chr 1:95,500,566...95,504,357

G

RAS related 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:177,668,143...177,737,551
Ensembl chr 1:168,233,693...168,303,111

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:23832011 PMID:26457647

NCBI chr18:74,465,616...74,827,455
Ensembl chr18:72,191,035...72,552,556

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:40,391,755...40,414,336
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:34,179,279...34,201,989
Ensembl chr X:30,547,536...30,570,125

Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9 like

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

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

NCBI chr 4:32,316,748...32,331,112
Ensembl chr 4:31,361,669...31,376,415

Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9

ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2

PMID:2569483 PMID:25741868 PMID:28346228 PMID:28487541 PMID:28492532 More...

NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322

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 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409

G

angiotensin I converting enzyme

protein:increased activity:serum

RGD

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

albumin

disease_progression

RGD

NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr10:45,844,411...45,865,853
Ensembl chr10:45,343,395...45,366,331

G

apolipoprotein E

treatment

RGD

NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:95,258,429...95,335,987
Ensembl chr 6:89,522,442...89,593,510

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:181,546,742...181,562,890
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 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:80,069,960...80,144,167
Ensembl chr 9:72,623,155...72,694,265

G

BCL2, apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

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Bcl2-like 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12429644 PMID:14656874

NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479

G

Bcl2-like 10

protein:increased expression:bone marrow :

RGD

NCBI chr 8:84,987,833...84,993,878
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:132,394,703...132,462,414
Ensembl chr X:127,537,538...127,584,087

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:203,137,778...203,154,962
Ensembl chr 1:193,708,167...193,725,359

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B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Myelomatosis

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

NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463

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BRCA2, DNA repair associated

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567

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BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:33,228,149...33,230,406
Ensembl chr 7:31,341,027...31,343,649

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Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

RGD

NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176

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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 7:113,341,030...113,358,716
Ensembl chr 7:111,460,656...111,477,973

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C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226

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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 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484

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cyclin D1

susceptibility

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

ClinVar
CTD
OMIM
RGD

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

RGD:1581171, RGD:11353784

NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602

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cyclin D2

RGD

NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495

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cyclin D3

RGD

NCBI chr 9:20,891,696...20,987,199
Ensembl chr 9:13,394,169...13,489,371

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CD40 molecule

treatment

human cells in a mouse model

RGD

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

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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:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

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CD46 molecule

protein:increased expression:plasma cell (human)

RGD

NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445

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CD86 molecule

severity

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

CTD
RGD

PMID:16611307 PMID:22705596

NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818

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cyclin-dependent kinase 4

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

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

NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403

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cyclin-dependent kinase inhibitor 2A

disease_progression

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

CTD
RGD

PMID:16008847 PMID:12681979

NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:129,639,736...129,645,564
Ensembl chr 5:124,411,124...124,416,278

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complement factor H-related 1

treatment

RGD

NCBI chr13:53,946,298...53,961,282
Ensembl chr13:51,369,211...51,410,592

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chitinase 3 like 1

severity

protein:increased secretion:serum (human)

RGD

NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787

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cereblon

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

NCBI chr 4:141,255,400...141,276,722
Ensembl chr 4:139,701,094...139,719,938

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CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888

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colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199

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colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603

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cytotoxic T-lymphocyte-associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

RGD

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

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CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658

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cytochrome P450, family 1, subfamily a, polypeptide 1

susceptibility

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

RGD

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

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cytochrome P450, family 2, subfamily C, polypeptide 6

treatment
no_association

DNA:polymorphisms: :

RGD

PMID:17666363 PMID:20684753

RGD:11352748, RGD:11352804

NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:237,693,094...238,057,596

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cytochrome P450, family 2, subfamily d, polypeptide 4

no_association

DNA:polymorphisms: :

RGD

NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759

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

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr15:82,231,922...82,258,299
Ensembl chr15:75,823,436...75,850,642

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DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687

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desmoglein 2

disease_progression

RGD

NCBI chr18:12,121,287...12,179,590
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:39,307,320...39,322,023
Ensembl chr X:35,498,517...35,513,335

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endoglin

severity

protein:increased expression:serum:

RGD

NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230

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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 chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235

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ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

RGD

NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963

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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 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102

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Ets2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:80,829,935...80,838,388

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Fas ligand

disease_progression

RGD

NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215

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FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107

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Fc gamma receptor 2A

disease_progression
susceptibility

DNA:polymorphism: :rs1801274(human)

RGD

PMID:25850245 PMID:17315188

RGD:11040778, RGD:11040938

NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967

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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 chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341

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fibrinogen gamma chain

treatment

RGD

NCBI chr 2:170,652,929...170,660,372
Ensembl chr 2:168,355,013...168,362,322

G

Fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:12,660,035...12,735,584
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 1:104,751,518...104,756,925
Ensembl chr 1:95,609,370...95,620,463

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FTO, alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

RGD

NCBI chr19:31,456,749...31,865,011
Ensembl chr19:15,349,696...15,692,083

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glutathione peroxidase 1

RGD

NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

RGD

NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035

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glutathione S-transferase mu 1

severity
no_association

RGD

PMID:17653713 PMID:15136237

RGD:10450826, RGD:10450846

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

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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 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226

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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 chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

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H19 imprinted maternally expressed transcript

severity

RNA:decrased expression:blood serum (human)

RGD

NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134

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H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:41,914,425...41,915,206
Ensembl chr17:41,486,560...41,487,403

G

H3 clustered histone 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:41,796,236...41,796,759
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164

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homeostatic iron regulator

susceptibility

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

RGD

NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502

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hexokinase 1

RGD

NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131

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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 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615

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heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743

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intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

RGD

PMID:7834632 PMID:7686390

RGD:11354981, RGD:11520780

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

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insulin-like growth factor 2 receptor

protein:increased expression:serum,urine:

RGD

NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:47,979,109...48,067,501

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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 chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313

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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 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822

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interleukin 1 beta

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

RGD

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

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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 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

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interleukin 4 receptor

susceptibility

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

RGD

NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980

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interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

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interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:60,179,561...60,204,937
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 chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070

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interferon regulatory factor 8

DNA:hypermethylation

RGD

NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:24,821,568...24,866,423
Ensembl chr X:21,345,481...21,381,870

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lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539

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lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325

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 4:179,916,255...179,949,613

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:3,980,801...4,014,029
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 chr16:86,220,345...86,228,930
Ensembl chr16:79,518,312...79,527,040

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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 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172

G

MAF bZIP transcription factor

OMIM:254500

NCBI chr19:60,259,200...60,622,145
Ensembl chr19:43,360,342...43,712,365

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chr 2:185,884,840...185,912,532
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 chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973

G

MET proto-oncogene, receptor tyrosine kinase

RGD

NCBI chr 4:46,756,823...46,864,041
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 2:214,215,165...214,231,412
Ensembl chr 2:211,530,602...211,546,821

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr15:27,476,659...27,491,134
Ensembl chr15:25,003,172...25,014,041

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:127,300,558...127,396,694
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 chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718

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microRNA 17

disease_progression

miRNA:increased expression:plasma cell

RGD

NCBI chr15:98,587,848...98,587,931
Ensembl chr15:92,180,629...92,180,712

G

microRNA 19a

CTD Direct Evidence: marker/mechanism

NCBI chr15:98,588,131...98,588,212
Ensembl chr15:92,180,912...92,180,993

G

microRNA 27a

CTD Direct Evidence: marker/mechanism

NCBI chr19:40,859,603...40,859,689
Ensembl chr19:23,954,831...23,954,917

G

microRNA 320a

ameliorates

human gene in mouse model

RGD

NCBI chr15:51,926,088...51,926,169
Ensembl chr15:45,516,392...45,516,473

G

microRNA 92a-1

CTD Direct Evidence: marker/mechanism

NCBI chr15:98,588,555...98,588,632
Ensembl chr15:92,181,336...92,181,413

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:108,597,299...108,612,455

G

methylenetetrahydrofolate reductase

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

RGD

NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

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

RGD

NCBI chr17:62,911,705...62,996,544
Ensembl chr17:58,220,071...58,304,822

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

RGD

NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:34,867,089...34,899,425

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733

G

nuclear receptor co-repressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:37,127,736...37,289,612
Ensembl chr12:31,466,412...31,628,319

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658

G

NFKB inhibitor alpha

RGD

PMID:16540234 PMID:12377412

RGD:2298898, RGD:2298895

NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:79,731,677...79,735,952
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:70,594,116...70,611,976
Ensembl chr X:66,554,098...66,571,952

G

notch receptor 2

protein:increased expression:bone marrow (human)

RGD

NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088

G

NADPH oxidase 1

protein:increased expression:serum

RGD

NCBI chr X:101,572,338...101,625,571
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 chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557

G

NRAS proto-oncogene, GTPase

treatment

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

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

NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:21,217,729...21,289,608
Ensembl chr 7:19,329,933...19,401,913

G

poly (ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404

G

platelet factor 4

ameliorates

RGD

NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,298,308...17,299,365

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:18,699,389...18,708,045
Ensembl chr16:18,665,457...18,674,065

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

RGD

NCBI chr 8:67,523,164...67,557,801
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 1:88,135,493...88,138,769
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 4:34,261,312...34,292,327
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:102,862,457...102,867,725
Ensembl chr X:98,569,415...98,572,096

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr15:31,938,927...31,948,318
Ensembl chr15:27,968,910...27,978,296

G

psoriasis susceptibility 1 candidate 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,206,886...3,208,307
Ensembl chr20:3,202,174...3,203,599

G

parathyroid hormone-like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:180,188,792...180,199,847

G

RAN binding protein 2

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

RGD

NCBI chr20:26,984,520...27,036,573
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 chr18:3,198,188...3,263,643
Ensembl chr18:2,921,286...2,988,846

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

RGD

NCBI chr 8:107,904,589...107,926,109
Ensembl chr 8:99,025,206...99,046,743

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619

G

roundabout guidance receptor 1

ameliorates

RGD

NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203

G

RT1 class I, locus CE16

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563

G

RUNX family transcription factor 1

mRNA:splice variant

RGD

NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:31,387,892...31,474,415
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 3:166,179,742...166,214,448
Ensembl chr 3:145,761,558...145,794,386

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:24,799,391...24,916,886
Ensembl chr 1:22,980,261...23,098,283

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:40,391,755...40,414,336
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 1:50,043,323...50,050,168
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 chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314

G

telomerase reverse transcriptase

RGD

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:117,425,106...117,525,495
Ensembl chr 4:115,871,265...115,964,193

G

transferrin receptor

treatment

RGD

NCBI chr11:81,668,478...81,690,318
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 1:90,324,312...90,340,627
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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 10b

treatment

RGD

NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987

G

TNF receptor superfamily member 17

RGD

NCBI chr10:4,808,023...4,813,857
Ensembl chr10:4,301,038...4,306,788

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:82,266,436...82,292,858
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:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 More...

RGD:11073716, RGD:11073728, RGD:11075073

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:141,236,937...141,259,700
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 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,548,431...129,843,555
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 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

xanthine dehydrogenase

protein:increased expression:serum

RGD

NCBI chr 6:27,282,319...27,344,022
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 9:22,237,760...22,275,745
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 6:136,684,558...136,694,822
Ensembl chr 6:130,863,959...130,872,444

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

RGD

NCBI chr 2:22,686,506...22,932,929
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 9:81,404,507...81,493,293
Ensembl chr 9:73,955,216...74,044,018

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:5,095,722...5,167,010

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:188,402,228...188,417,740
Ensembl chr 3:168,024,663...168,040,172

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:133,471,615...133,500,875
Ensembl chr 6:127,707,596...127,732,747

myelodysplastic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase long-chain family member 6

ClinVar Annotator: match by term: ACSL6-related condition

NCBI chr10:38,940,668...38,999,515
Ensembl chr10:38,440,080...38,498,757

G

actin related protein 2/3 complex, subunit 1B

treatment

RGD

NCBI chr12:14,595,939...14,609,501
Ensembl chr12:9,480,831...9,495,747

G

ASXL transcriptional regulator 1

treatment
disease_progression

ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome
OMIM:614286
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:16199547 PMID:20880116 PMID:21576631 PMID:21706002 PMID:21881046 More...

RGD:11038769, RGD:10450876, RGD:11038712, RGD:11038707

NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538

G

autophagy related 7

OMIM:614286

NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:147,718,752...147,925,593

G

ATRX, chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:74,916,548...75,062,880
Ensembl chr X:70,850,981...70,997,330

G

BRCA1 associated deubiquitinase 1

OMIM:614286

NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535

G

Bcl2-like 10

susceptibility
treatment

DNA:SNP:cds:p.Leu21Arg rs2231292)(human)

RGD

PMID:24047476 PMID:21760590

RGD:11058140, RGD:14392809

NCBI chr 8:84,987,833...84,993,878
Ensembl chr 8:76,107,326...76,113,367

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr17:86,240,683...86,250,044
Ensembl chr17:81,332,214...81,388,690

G

CD40 molecule

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

RGD

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

cyclin-dependent kinase inhibitor 1B

DNA:deletion: :

RGD

NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

severity

DNA:hypermethylation: :

RGD

NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2B

disease_progression
treatment

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

CTD
RGD

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

RGD:11251750, RGD:11252195, RGD:11252169

NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050

G

CASP8 and FADD-like apoptosis regulator

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16105982 PMID:14562111

NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034

G

CREB binding protein

OMIM:614286

NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888

G

colony stimulating factor 3 receptor

disease_progression

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

RGD

PMID:15644419 PMID:12670333

RGD:10450471, RGD:10450504

NCBI chr 5:143,583,126...143,604,382
Ensembl chr 5:138,301,506...138,317,881

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,930,213...4,090,991

G

DEAD-box helicase 41

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

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

NCBI chr17:9,108,030...9,113,562
Ensembl chr17:9,103,010...9,108,415

G

DEAD-box helicase 42

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

RGD

NCBI chr10:91,148,926...91,180,940
Ensembl chr10:91,148,254...91,180,939

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:134,192,491...134,199,779
Ensembl chr 6:128,410,316...128,417,522

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 alpha

disease_progression

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

CTD
RGD

PMID:32431489 PMID:21415852 PMID:22066015

RGD:11041122, RGD:11041124

NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687

G

DNA methyltransferase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124

G

early growth response 1

OMIM:614286

NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766

G

erythropoietin

CTD Direct Evidence: therapeutic

PMID:12670338 PMID:16076383

NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Myelodysplastic syndrome

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

NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression

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

RGD

PMID:25154760 PMID:26482462

RGD:11252197, RGD:11075607

NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102

G

ETS variant transcription factor 6

DNA:translocation: :
DNA:deletion: :

RGD

PMID:12203785 PMID:18476590 PMID:9171997

RGD:1581019, RGD:10450605, RGD:10450601

NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

CTD
RGD

PMID:20601954 PMID:22869879 PMID:21125401

RGD:10450880, RGD:10450887

NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362

G

Fas cell surface death receptor

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

RGD

PMID:9557605 PMID:15686130

RGD:11049447, RGD:11049448

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

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

RGD

PMID:9557605 PMID:15686130

RGD:11049447, RGD:11049448

NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215

G

Fc gamma receptor 3A

RGD

NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921

G

Fms related receptor tyrosine kinase 3

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

NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474

G

GATA binding protein 1

severity
disease_progression

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

MouseDO
CTD
RGD

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

RGD:10450734, RGD:10450753, RGD:10450752

NCBI chr X:17,193,291...17,209,462
Ensembl chr X:14,529,702...14,537,530

G

GATA binding protein 2

severity
susceptibility

mRNA:increased expression:bone marrow:
ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

PMID:4508672 PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 More...

NCBI chr 4:122,211,501...122,225,058
Ensembl chr 4:120,658,986...120,667,761

G

growth factor independent 1 transcriptional repressor

mRNA:decreased expression:bone marrow:

RGD

NCBI chr14:2,185,489...2,204,191
Ensembl chr14:2,042,434...2,051,814

G

G protein subunit beta 1

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

OMIM
ClinVar
CTD

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

NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:166,075,629...166,142,124

G

glutathione S-transferase mu 1

susceptibility
treatment

RGD

PMID:16620556 PMID:15595630

RGD:10450800, RGD:10450836

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

susceptibility

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

RGD

NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

disease_progression
no_association

RGD

PMID:8569364 PMID:23859717 PMID:9164324

RGD:10450772, RGD:10450840, RGD:10450779

NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111

G

homeostatic iron regulator

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

CTD
RGD

PMID:17001480 PMID:12624489

NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502

G

isocitrate dehydrogenase (NADP(+)) 1

disease_progression

DNA:mutation: :

RGD

NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelodysplastic syndromes

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

NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025

G

interleukin 1 beta

mRNA:increased expression:bone marrow

RGD

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Myelodysplasia

PMID:25741868 PMID:28492532

NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697

G

integrin subunit beta 3

RGD

NCBI chr10:90,009,927...90,067,787
Ensembl chr10:89,509,989...89,564,679

G

lysine methyltransferase 2E

RGD

NCBI chr 4:12,550,570...12,655,329
Ensembl chr 4:11,658,979...11,727,373

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:179,916,255...179,949,613

G

leucine-rich repeat-containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chr13:48,976,193...49,095,870
Ensembl chr13:46,424,383...46,543,945

G

LYL1, basic helix-loop-helix family member

CTD Direct Evidence: marker/mechanism

NCBI chr19:40,356,967...40,359,834
Ensembl chr19:23,452,140...23,455,007

G

macroH2A.1 histone

OMIM:614286

NCBI chr17:8,484,340...8,547,268
Ensembl chr17:8,479,372...8,542,072

G

MDM2 proto-oncogene

no_association

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

RGD

NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915

G

MEFV innate immunity regulator, pyrin

susceptibility

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

RGD

NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

RGD

NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:34,867,089...34,899,425

G

MYB proto-oncogene like 2

OMIM:614286

NCBI chr 3:172,124,765...172,153,221
Ensembl chr 3:151,705,288...151,733,708

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630

G

nucleophosmin 1

OMIM:614286
ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia

MouseDO
ClinVar

PMID:15659725 PMID:20026798 PMID:32581362

NCBI chr10:18,245,739...18,255,913
Ensembl chr10:17,739,941...17,751,645
Ensembl chr X:17,739,941...17,751,645

G

NAD(P)H quinone dehydrogenase 1

no_association

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

RGD

NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557

G

NRAS proto-oncogene, GTPase

disease_progression

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

PMID:15951308 PMID:25741868 PMID:28098151 PMID:28492532 PMID:28594414 More...

NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626

G

phospholipase C beta 1

severity
treatment

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

CTD
RGD

PMID:19805378 PMID:16820933 PMID:21109771

RGD:11535164, RGD:11535956

NCBI chr 3:142,512,765...143,224,042
Ensembl chr 3:122,060,031...122,772,869

G

prostate transmembrane protein, androgen induced 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:182,430,193...182,478,649
Ensembl chr 3:162,012,751...162,060,454

G

DNA polymerase gamma, catalytic subunit

OMIM:614286

NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567

G

PRAME like, X-linked 1

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

RGD

NCBI chr X:102,862,457...102,867,725
Ensembl chr X:98,569,415...98,572,096

G

Rap1 GTPase-activating protein

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

RGD

NCBI chr 5:155,157,511...155,222,622
Ensembl chr 5:149,892,019...149,939,253

G

RUNX family transcription factor 1

disease_progression

DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple
ClinVar Annotator: match by term: Myelodysplasia
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:18723428 PMID:25741868 PMID:27992414 PMID:17910630

NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542

G

sterile alpha motif domain containing 9

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

PMID:27182967 PMID:28492532 PMID:30046003 PMID:37160314

NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322

G

sterile alpha motif domain containing 9 like

OMIM:614286

NCBI chr 4:32,316,748...32,331,112
Ensembl chr 4:31,361,669...31,376,415

G

splicing factor 3b, subunit 1

ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia | ClinVar Annotator: match by term: SF3B1-related condition
OMIM:614286
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 9:63,986,829...64,026,723
Ensembl chr 9:56,492,403...56,532,300

G

solute carrier family 22 member 5

mRNA:decreased expression:PBMCs (human)

RGD

NCBI chr10:38,509,072...38,536,240
Ensembl chr10:38,008,311...38,035,309

G

sphingomyelin phosphodiesterase 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:51,072,209...51,155,639
Ensembl chr19:34,162,341...34,245,749

G

sphingosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:102,257,413...102,263,086
Ensembl chr10:101,758,711...101,764,240

G

serine and arginine rich splicing factor 11

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

RGD

NCBI chr 2:247,074,623...247,101,460
Ensembl chr 2:247,074,631...247,101,425

G

serine and arginine rich splicing factor 2

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

NCBI chr10:102,550,962...102,554,200
Ensembl chr10:102,052,314...102,055,338

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

NCBI chr X:125,839,660...125,971,209
Ensembl chr X:120,974,857...121,105,677

G

telomerase reverse transcriptase

severity

mRNA:splice variants:cds
ClinVar Annotator: match by term: Myelodysplasia

PMID:25741868 PMID:28492532 PMID:29463756 PMID:33718801 PMID:24844605 More...

RGD:11038659, RGD:11038661

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

severity

ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: TET2-related condition
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple
DNA:missense mutations, nonsense mutations, splice-site mutation:multiple

OMIM
ClinVar
CTD
RGD

PMID:19483684 PMID:24728327 PMID:25741868 PMID:27992414 PMID:28492532 More...

RGD:10450876, RGD:11038679

NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534

G

toll-like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630

G

tumor necrosis factor

disease_progression

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

RGD

PMID:15888251 PMID:10697556

RGD:10450530, RGD:10450881

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

tumor protein p53

disease_progression
treatment
no_association

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

CTD
RGD

PMID:27992414 PMID:24836762 PMID:25412846 PMID:25573287 PMID:22668018 More...

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

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

U2 small nuclear RNA auxiliary factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832

G

X-ray repair cross complementing 1

no_association

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

RGD

PMID:26482462 PMID:26482462

RGD:11075607, RGD:11075607

NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701

G

zinc finger protein, multitype 2

RGD

NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:71,678,880...72,116,205

G

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

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

CTD
RGD

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

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

NCBI chr X:34,179,279...34,201,989
Ensembl chr X:30,547,536...30,570,125

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 4:77,624,223...77,698,598
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 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538

G

autophagy related 2B

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:130,286,979...130,357,109
Ensembl chr 6:124,525,523...124,592,015

G

bradykinin receptor B1

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747

G

bradykinin receptor B2

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:130,237,055...130,267,205
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

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

OMIM
ClinVar
CTD
RGD

PMID:24325356 PMID:24325359 PMID:25741868 PMID:28492532 PMID:24997152 More...

RGD:11352753, RGD:11352747

NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414

G

ERCC excision repair 1, endonuclease non-catalytic subunit

RGD

NCBI chr 1:88,099,308...88,135,966
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 1:88,161,342...88,175,102
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 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362

G

Fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:multiple:

RGD

NCBI chr12:12,660,035...12,735,584
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 1:104,751,518...104,756,925
Ensembl chr 1:95,609,370...95,620,463

G

GATA binding protein 1

OMIM:254450

NCBI chr X:17,193,291...17,209,462
Ensembl chr X:14,529,702...14,537,530

G

GSK3B interacting protein

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:130,357,241...130,373,221
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 chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502

G

insulin-like 6

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

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

NCBI chr 1:236,483,530...236,487,065
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 | ClinVar Annotator: match by term: Primary myelofibrosis
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

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

RGD:1627655, RGD:10449377

NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189

G

lysine methyltransferase 2A

exacerbates

DOID:4971DNA:mutations:multiple (human)

RGD

NCBI chr 8:54,013,547...54,089,219
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:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 More...

NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:131,973,895...131,986,797

G

MYB proto-oncogene, transcription factor

OMIM:254450

NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:15,939,761...15,973,057

G

nuclear receptor co-repressor 2

OMIM:254450

NCBI chr12:37,127,736...37,289,612
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:15705783 PMID:20404132 PMID:21990094 PMID:24777453 PMID:25741868 More...

NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:25741868 PMID:26936507 PMID:32581362

NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:146,091,841...146,139,476

G

Tcl1 family Akt coactivator A

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:129,889,763...129,895,756
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 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

tumor protein p53

disease_progression

associated with Myelodysplastic Syndromes;

RGD

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

transmembrane neural differentiation associated intracellular calcium regulator

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:130,011,067...130,058,157

MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

rabenosyn, RAB effector

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

NCBI chr 4:126,239,354...126,269,702
Ensembl chr 4:124,683,969...124,712,578

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 chr17:86,240,683...86,250,044
Ensembl chr17:81,332,214...81,388,690

G

microRNA 150

miRNA:decreased expression:leukocytes

RGD

NCBI chr 1:104,741,487...104,741,571
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 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065

G

BCR activator of RhoGEF and GTPase

disease_progression

RGD

NCBI chr20:13,468,732...13,596,333
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 chr12:21,919,955...21,960,160
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 1:88,099,308...88,135,966
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 chr14:2,185,489...2,204,191
Ensembl chr14:2,042,434...2,051,814

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

RGD

NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:11,940,233...11,952,942

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 chr17:71,020,884...71,037,779
Ensembl chr17:66,110,963...66,127,873

G

autophagy related 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:130,286,979...130,357,109
Ensembl chr 6:124,525,523...124,592,015

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016

G

calreticulin

CTD Direct Evidence: marker/mechanism

NCBI chr19:40,213,367...40,218,262
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 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176

G

CD36 molecule

protein:increased expression:platelet, plasma membrane

RGD

NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903

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 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687

G

early growth response 1

RGD

NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766

G

ETS variant transcription factor 6

DNA:translocation: :

RGD

NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

RGD

NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362

G

coagulation factor III, tissue factor

treatment

RGD

NCBI chr 2:212,511,675...212,523,375
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 chr16:73,194,631...73,249,855
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

Fms related receptor tyrosine kinase 3

RGD

NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474

G

growth factor independent 1 transcriptional repressor

RGD

NCBI chr14:2,185,489...2,204,191
Ensembl chr14:2,042,434...2,051,814

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

RGD

NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:11,940,233...11,952,942

G

glutathione peroxidase 1

DNA:polymorphism: :p.P198L (human)

RGD

NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024

G

GSK3B interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:130,357,241...130,373,221
Ensembl chr 6:124,586,070...124,609,100

G

heat shock protein family A (Hsp70) member 5

RGD

NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891

G

insulin-like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:130,959,787...131,248,664
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 1:236,483,530...236,487,065
Ensembl chr 1:227,069,958...227,073,493

G

interferon regulatory factor 4

RGD

NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070

G

interferon regulatory factor 8

RGD

NCBI chr19:65,699,284...65,721,066
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 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189

G

KRAS proto-oncogene, GTPase

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

RGD

NCBI chr 4:179,916,255...179,949,613

G

MDS1 and EVI1 complex locus

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

CTD
RGD

PMID:29047144 PMID:9044825

NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:112,909,321...113,464,590

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:131,973,895...131,986,797

G

methylenetetrahydrofolate reductase

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

RGD

NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797

G

nucleophosmin 1

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

RGD

NCBI chr10:18,245,739...18,255,913
Ensembl chr10:17,739,941...17,751,645
Ensembl chr X:17,739,941...17,751,645

G

NAD(P)H quinone dehydrogenase 1

RGD

NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557

G

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

RGD

NCBI chr17:31,114,825...31,144,062
Ensembl chr17:30,909,187...30,938,320

G

NRAS proto-oncogene, GTPase

disease_progression

RGD

NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626

G

RUNX family transcription factor 1

RGD

NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

zinc finger MYM-type containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:35,151,356...35,224,528
Ensembl chr15:31,035,838...31,109,357

myeloproliferative disorder with eosinophilia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor beta

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

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

NCBI chr18:56,770,348...56,809,228
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 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538

G

colony stimulating factor 3 receptor

RGD

NCBI chr 5:143,583,126...143,604,382
Ensembl chr 5:138,301,506...138,317,881

G

cut-like homeobox 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm

NCBI chr12:25,728,393...26,062,497
Ensembl chr12:20,107,311...20,425,866
Ensembl chr 4:20,107,311...20,425,866

G

DEAD-box helicase 41

susceptibility

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

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

NCBI chr17:9,108,030...9,113,562
Ensembl chr17:9,103,010...9,108,415

G

ETS variant transcription factor 6

DNA:translocation: :

RGD

NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992

G

inositol-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:35101336

NCBI chr13:94,601,072...94,696,180
Ensembl chr13:92,069,216...92,162,004

G

Janus kinase 2

NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189

G

neurofibromin 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr10:64,803,986...65,037,086
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 3:29,676,040...29,721,613
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 chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335

G

platelet derived growth factor receptor beta

DNA:translocation: :

NCBI chr18:56,770,348...56,809,228
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 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838

G

transcription factor 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr 7:9,931,251...9,952,994
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 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534

myopathy, lactic acidosis, and sideroblastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1-like

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

PMID:25741868 PMID:28492532

NCBI chr11:98,084,049...98,135,663
Ensembl chr11:84,581,216...84,631,482

G

pseudouridine synthase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia

CTD
ClinVar
MouseDO

PMID:17056637 PMID:19731322 PMID:25058219 PMID:25741868 PMID:26556812 More...

NCBI chr12:51,539,659...51,548,975
Ensembl chr12:45,880,440...45,889,196

G

tyrosyl-tRNA synthetase 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr11:98,136,530...98,142,320
Ensembl chr11:84,624,369...84,638,125

myopathy, lactic acidosis, and sideroblastic anemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pseudouridine synthase 1

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

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

NCBI chr12:51,539,659...51,548,975
Ensembl chr12:45,880,440...45,889,196

myopathy, lactic acidosis, and sideroblastic anemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1-like

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

PMID:25741868 PMID:28492532

NCBI chr11:98,084,049...98,135,663
Ensembl chr11:84,581,216...84,631,482

G

tyrosyl-tRNA synthetase 2

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

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

NCBI chr11:98,136,530...98,142,320
Ensembl chr11:84,624,369...84,638,125

myopathy, lactic acidosis, and sideroblastic anemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded ATP synthase membrane subunit 6

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

PMID:25037980 PMID:27812026 PMID:29350304

NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599

Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cbl proto-oncogene

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

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

NCBI chr 8:53,384,656...53,468,067
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:14991917 More...

NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925

paroxysmal nocturnal hemoglobinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

protein:increased processing:erythrocyte

RGD

NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

complement C5

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

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

NCBI chr 3:38,668,174...38,759,468
Ensembl chr 3:18,270,696...18,361,994

G

C-X-C motif chemokine receptor 4

treatment

RGD

NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883

G

phosphatidylinositol glycan anchor biosynthesis, class A

associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human)
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

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

NCBI chr X:33,672,832...33,687,747
Ensembl chr X:30,042,343...30,055,804

G

phosphatidylinositol glycan anchor biosynthesis, class T

CTD Direct Evidence: marker/mechanism

NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:153,227,420...153,236,887

G

RT1 class II, locus Ba

DNA:polymorphism, haplotype

RGD

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphism, haplotype

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

Paroxysmal Nocturnal Hemoglobinuria 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis, class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

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

NCBI chr X:33,672,832...33,687,747
Ensembl chr X:30,042,343...30,055,804

G

phosphatidylinositol glycan anchor biosynthesis, class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:153,227,420...153,236,887

Paroxysmal Nocturnal Hemoglobinuria 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis, class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2

PMID:23733340 PMID:25741868 PMID:28492532

NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:153,227,420...153,236,887

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 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

telomerase reverse transcriptase

RGD

NCBI chr 1:31,465,766...31,488,650
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 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437

G

Bcl2-like 1

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

RGD

NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 4:18,209,088...18,302,142
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 7:10,467,877...10,469,725
Ensembl chr 7:9,817,252...9,819,100

G

erythropoietin receptor

mRNA:decreased expression:blood cell:

RGD

NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:20,489,678...20,494,257

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

RGD

NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661

G

glutathione S-transferase mu 1

susceptibility

RGD

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

G

hemoglobin alpha, adult chain 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
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 1:167,662,310...167,663,721
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 chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502

G

insulin-like 6

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

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

NCBI chr 1:236,483,530...236,487,065
Ensembl chr 1:227,069,958...227,073,493

G

Janus kinase 2

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

ClinVar
MouseDO
CTD
OMIM
RGD

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

NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189

Primary Lymphedema with Myelodysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and BTB domain containing 1

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

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

NCBI chr 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620

G

acyl-CoA dehydrogenase family, member 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:113,560,142...113,625,346
Ensembl chr 8:104,681,396...104,746,560

G

acyl-CoA dehydrogenase family, member 9

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

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

NCBI chr 2:120,871,329...120,894,306
Ensembl chr 2:118,943,174...118,966,547

G

atypical chemokine receptor 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:113,595,325...113,599,762
Ensembl chr 8:104,716,067...104,723,617

G

acid phosphatase 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:113,784,372...113,833,033
Ensembl chr 8:104,905,586...104,954,236

G

adenylate cyclase 5

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

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

NCBI chr11:78,976,861...79,123,343
Ensembl chr11:65,471,612...65,618,974

G

aldehyde dehydrogenase 1 family, member L1

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

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

NCBI chr 4:124,617,182...124,663,674
Ensembl chr 4:123,060,008...123,106,465

G

angiomotin like 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,303,368...103,319,161
Ensembl chr 8:103,302,992...103,318,910

G

anaphase promoting complex subunit 13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:112,084,405...112,092,821
Ensembl chr 8:103,205,520...103,213,936

G

asteroid homolog 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:114,905,349...114,923,775
Ensembl chr 8:106,026,515...106,044,430

G

ATPase secretory pathway Ca2+ transporting 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 8:114,913,551...115,034,706
Ensembl chr 8:106,034,636...106,156,006

G

beaded filament structural protein 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399

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similar to human chromosome 3 open reading frame 22

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

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

NCBI chr 4:122,817,681...122,822,175
Ensembl chr 4:122,817,681...122,822,175

G

calcium-sensing receptor

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811

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coiled-coil domain containing 14

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

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

NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956

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CD86 molecule

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818

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carnitine deficiency-associated gene expressed in ventricle 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,934,006...103,947,173
Ensembl chr 8:103,933,996...103,947,192

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centrosomal protein 63

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:112,041,586...112,093,061
Ensembl chr 8:103,162,700...103,214,177

G

cilia and flagella associated protein 100

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

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

NCBI chr 4:122,914,693...122,938,994
Ensembl chr 4:122,914,698...122,938,580

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cilia and flagella associated protein 92

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:121,683,889...121,738,920
Ensembl chr 4:120,126,567...120,181,546

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

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

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

NCBI chr 4:123,360,729...123,581,429
Ensembl chr 4:121,792,717...122,024,216

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carbohydrate sulfotransferase 13

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:124,381,226...124,395,143
Ensembl chr 4:122,824,022...122,838,019

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CCHC-type zinc finger, nucleic acid binding protein

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:121,860,102...121,868,976
Ensembl chr 4:120,302,771...120,311,637

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collagen type VI alpha 5 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 8:115,362,532...115,462,844
Ensembl chr 8:106,483,799...106,584,113

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collagen type VI alpha 6 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 8:115,196,833...115,352,161
Ensembl chr 8:106,306,422...106,473,472

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COPI coat complex subunit gamma 1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616

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copine 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:114,056,152...114,531,855
Ensembl chr 8:105,177,376...105,653,068

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cystatin A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:78,125,813...78,136,818
Ensembl chr11:64,620,483...64,631,488

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DnaJ heat shock protein family (Hsp40) member B8

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

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

NCBI chr 4:122,239,209...122,242,277
Ensembl chr 4:120,681,926...120,687,552

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DnaJ heat shock protein family (Hsp40) member C13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:113,646,573...113,756,104
Ensembl chr 8:104,767,788...104,877,317

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deltex E3 ubiquitin ligase 3L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:78,320,225...78,329,837
Ensembl chr11:64,814,926...64,824,538

G

ELL associated factor 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:77,465,585...77,509,993
Ensembl chr11:63,960,200...64,004,610

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eukaryotic elongation factor, selenocysteine-tRNA-specific

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

PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More...

NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779

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EF-hand calcium binding domain 12

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560

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EF-hand and coiled-coil domain containing 1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516

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Eph receptor B1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:111,386,432...111,823,759
Ensembl chr 8:102,507,549...102,944,839

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family with sequence similarity 162, member A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:78,186,260...78,215,186
Ensembl chr11:64,680,323...64,711,239

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F-box protein 40

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,794,452...63,812,697
Ensembl chr11:63,794,624...63,812,697

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follistatin-like 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:76,400,870...76,454,053
Ensembl chr11:62,779,783...62,948,677

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GATA binding protein 2

susceptibility

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

PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 More...

NCBI chr 4:122,211,501...122,225,058
Ensembl chr 4:120,658,986...120,667,761

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golgin B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:77,348,573...77,406,165
Ensembl chr11:63,843,986...63,900,770

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glycoprotein IX (platelet)

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110

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general transcription factor IIE subunit 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,182,073...63,215,349
Ensembl chr11:63,182,349...63,213,942

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H1.10 linker histone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:120,440,515...120,441,578
Ensembl chr 4:120,440,870...120,441,448

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H1.8 linker histone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254

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3-hydroxyacyl-CoA dehydratase 2

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

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

NCBI chr11:79,175,470...79,268,975
Ensembl chr11:65,670,281...65,762,889

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hematopoietic cell specific Lyn substrate 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:77,322,873...77,346,333
Ensembl chr11:63,817,476...63,841,014

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heart development protein with EGF-like domains 1

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

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

NCBI chr11:80,512,096...80,600,150
Ensembl chr11:66,957,190...67,095,051

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homogentisate 1, 2-dioxygenase

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:76,592,202...76,643,776
Ensembl chr11:63,086,752...63,138,323

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5-hydroxymethylcytosine binding, ES cell specific

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:121,950,129...121,972,937
Ensembl chr 4:120,366,542...120,415,616

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HSPB1 associated protein 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:78,445,376...78,500,034
Ensembl chr11:64,940,091...64,994,756

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intraflagellar transport 122

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:148,905,046...148,975,458

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interleukin 20 receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:109,858,108...109,896,066
Ensembl chr 8:100,980,383...101,009,942

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immunoglobulin-like domain containing receptor 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:77,591,146...77,624,268
Ensembl chr11:64,008,566...64,118,760

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IQ motif containing B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093

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ISY1 splicing factor homolog

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:121,833,870...121,854,561
Ensembl chr 4:120,276,292...120,297,188

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integrin subunit beta 5

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

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

NCBI chr11:80,333,588...80,449,373
Ensembl chr11:66,829,285...66,944,472

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kalirin, RhoGEF kinase

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

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

NCBI chr11:79,703,345...80,309,210
Ensembl chr11:66,198,173...66,797,610

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kelch repeat and BTB domain containing 12

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

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

NCBI chr 4:122,571,903...122,645,895
Ensembl chr 4:121,016,257...121,088,443

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KLF transcription factor 15

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

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

NCBI chr 4:124,522,652...124,535,613
Ensembl chr 4:122,965,807...122,978,374

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karyopherin subunit alpha 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623

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kyphoscoliosis peptidase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:111,965,862...112,005,206
Ensembl chr 8:103,086,630...103,126,024

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methyl-CpG binding domain 4 DNA glycosylase

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:150,565,646...150,577,433
Ensembl chr 4:148,894,280...148,904,982

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minichromosome maintenance complex component 2

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

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

NCBI chr 4:122,903,679...122,918,205
Ensembl chr 4:121,346,434...121,360,847

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monoglyceride lipase

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

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

NCBI chr 4:122,749,436...122,851,440
Ensembl chr 4:121,192,195...121,294,179

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mitochondrial matrix import factor 23

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:78,166,038...78,186,323
Ensembl chr11:64,660,711...64,681,000

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mitochondrial ribosomal protein L3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:114,548,970...114,572,330
Ensembl chr 8:105,670,184...105,693,544

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MSL complex subunit 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:101,676,605...101,702,818
Ensembl chr 8:101,676,765...101,763,833

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mucin 13, cell surface associated

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

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

NCBI chr11:80,462,350...80,489,773
Ensembl chr11:66,960,595...66,984,727

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myosin light chain kinase

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

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

NCBI chr11:79,288,243...79,535,450
Ensembl chr11:65,783,008...66,030,261

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NCK adaptor protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:109,897,723...109,958,247
Ensembl chr 8:101,018,702...101,079,300

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NADH:ubiquinone oxidoreductase subunit B4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,063,723...63,070,426
Ensembl chr11:63,063,795...63,070,425

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NIMA-related kinase 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:114,646,010...114,905,242
Ensembl chr 8:105,770,548...106,026,676

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nephrocystin 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383

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nudix hydrolase 16

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998

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oxysterol binding protein-like 11

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444

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poly (ADP-ribose) polymerase family, member 14

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:78,408,134...78,440,201
Ensembl chr11:64,902,785...64,934,916

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poly (ADP-ribose) polymerase family, member 9

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:78,286,282...78,320,409
Ensembl chr11:64,780,981...64,815,455

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propionyl-CoA carboxylase subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234

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protein disulfide isomerase family A, member 5

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:78,777,436...78,892,370
Ensembl chr11:65,272,155...65,359,084

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phosphoinositide-3-kinase, regulatory subunit 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 8:115,146,660...115,195,326
Ensembl chr 8:106,267,954...106,316,584

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plexin A1

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

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

NCBI chr 4:123,295,165...123,340,132
Ensembl chr 4:121,737,945...122,024,196

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plexin D1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:150,675,377...150,715,706
Ensembl chr 4:149,002,784...149,043,244

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podocalyxin-like 2

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

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

NCBI chr 4:122,863,476...122,895,318
Ensembl chr 4:121,306,224...121,338,112

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DNA polymerase theta

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:77,179,190...77,281,270
Ensembl chr11:63,673,816...63,775,878

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protein phosphatase 2, regulatory subunit B'', alpha

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:110,582,479...110,720,516
Ensembl chr 8:101,704,778...101,841,502

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RAB43, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:121,806,992...121,826,694
Ensembl chr 4:120,249,879...120,269,174

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RAB6B, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:112,574,223...112,642,911
Ensembl chr 8:103,695,631...103,805,732

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RAB7A, member RAS oncogene family

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

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

NCBI chr 4:122,019,281...122,068,067
Ensembl chr 4:120,461,963...120,506,889

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RAB, member of RAS oncogene family-like 3

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,153,281...63,182,240
Ensembl chr11:63,152,792...63,182,671

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rhodopsin

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:148,980,611...148,985,773

G

rhophilin associated tail protein 1

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

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

NCBI chr11:79,603,053...79,632,344
Ensembl chr11:66,097,856...66,127,148

G

ribophorin I

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

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

NCBI chr 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069

G

RuvB-like AAA ATPase 1

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

PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More...

NCBI chr 4:122,489,754...122,524,666
Ensembl chr 4:120,932,417...121,029,384

G

receptor-like tyrosine kinase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:112,298,158...112,370,912
Ensembl chr 8:103,419,275...103,491,698

G

SEC22 homolog A, vesicle trafficking protein

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319

G

SEC61 translocon subunit alpha 1

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

PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More...

NCBI chr 4:122,530,785...122,545,141
Ensembl chr 4:120,960,626...120,987,925

G

semaphorin 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:78,607,805...78,730,724
Ensembl chr11:65,102,031...65,225,311

G

solute carrier family 12, member 8

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

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

NCBI chr11:80,622,000...80,771,674
Ensembl chr11:67,116,877...67,266,834

G

solute carrier family 15 member 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:77,519,565...77,548,609
Ensembl chr11:64,014,182...64,043,225

G

solute carrier family 35, member G2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:101,085,579...101,113,339
Ensembl chr 8:101,085,545...101,113,349

G

solute carrier family 41, member 3

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

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

NCBI chr 4:124,666,789...124,711,968
Ensembl chr 4:123,112,748...123,154,766

G

solute carrier family 49 member 4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926

G

solute carrier organic anion transporter family, member 2a1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:112,467,739...112,551,923
Ensembl chr 8:103,588,916...103,672,546

G

sorting nexin 4

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

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

NCBI chr11:80,965,965...81,023,234
Ensembl chr11:67,460,870...67,518,174

G

SRP receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:112,647,577...112,661,524

G

STAG1 cohesin complex component

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:110,057,981...110,443,666
Ensembl chr 8:101,179,039...101,564,677

G

syntaxin binding protein 5L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:76,838,839...77,167,852
Ensembl chr11:63,334,667...63,657,014

G

transferrin

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:103,767,995...103,816,511

G

transmembrane and coiled-coil domain family 1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:150,738,966...150,912,256
Ensembl chr 4:149,069,260...149,239,620

G

transmembrane protein 108

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

PMID:22147895 PMID:25741868

NCBI chr 8:112,944,925...113,238,996
Ensembl chr 8:104,066,078...104,360,094

G

DNA topoisomerase II binding protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:112,766,791...112,815,203
Ensembl chr 8:103,887,865...103,931,674

G

transmembrane protein adipocyte associated 1

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

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

NCBI chr 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269

G

thyrotropin releasing hormone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:126,299,236...126,301,762
Ensembl chr 4:124,742,111...124,744,637

G

thioredoxin reductase 3

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

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

NCBI chr 4:123,629,768...123,669,713
Ensembl chr 4:122,072,548...122,112,491

G

ubiquitin-like modifier activating enzyme 5

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:113,544,037...113,559,711
Ensembl chr 8:104,665,046...104,680,894

G

uridine monophosphate synthetase

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

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

NCBI chr11:80,311,269...80,321,678
Ensembl chr11:66,806,045...66,821,903

G

urocanate hydratase 1

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

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

NCBI chr 4:124,402,119...124,433,787
Ensembl chr 4:122,844,926...122,876,591

G

WD repeat domain 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807

G

zinc finger protein 148

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

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

NCBI chr11:80,780,865...80,890,877
Ensembl chr11:67,281,707...67,385,772

G

ZXD family zinc finger C

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

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

NCBI chr 4:124,439,560...124,471,694
Ensembl chr 4:122,882,336...122,916,496

Refractory Anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 5

RGD

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

Fms related receptor tyrosine kinase 3 ligand

protein:increased expression:serum:

RGD

NCBI chr 1:104,751,518...104,756,925
Ensembl chr 1:95,609,370...95,620,463

G

homeostatic iron regulator

no_association

associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)
associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)

RGD

PMID:17654685 PMID:17654685

RGD:10755539, RGD:10755539

NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502

G

transcobalamin 2

protein:increased expression::

RGD

NCBI chr14:83,036,935...83,052,187
Ensembl chr14:78,813,343...78,828,489

G

telomerase reverse transcriptase

RGD

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

Y box binding protein 1

RGD

NCBI chr 5:138,167,444...138,188,155
Ensembl chr 5:132,882,145...132,898,862

Refractory Anemia with Excess of Blasts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 5

RGD

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

complement C3

disease_progression

RGD

NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

complement factor B

disease_progression

RGD

NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505

G

telomerase reverse transcriptase

RGD

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

disease_progression

RGD

NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534

sideroblastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16892088 PMID:18637800 PMID:18398482

NCBI chr X:73,361,296...73,502,464
Ensembl chr X:69,295,552...69,436,858

G

aminolevulinate dehydratase

protein:decreased activity:kidney, liver, spleen

RGD

NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:75,961,993...75,972,474

G

5'-aminolevulinate synthase 2

susceptibility

DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16716198 PMID:16892088 PMID:7949148

NCBI chr X:22,890,650...22,914,046
Ensembl chr X:19,463,171...19,486,519

G

calreticulin

DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)

RGD

NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,838,436...18,842,022
Ensembl chr16:18,805,239...18,808,055

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:129,752,902...129,763,278
Ensembl chr 6:123,988,134...123,998,545

G

heat shock protein family A (Hsp70) member 9

CTD Direct Evidence: marker/mechanism

NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,535,798...26,554,292

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia

PMID:9389715 PMID:32906214

NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867

G

pseudouridine synthase 1

ClinVar Annotator: match by term: Sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr12:51,539,659...51,548,975
Ensembl chr12:45,880,440...45,889,196

G

solute carrier family 25, member 38

CTD Direct Evidence: marker/mechanism

NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:16910769 PMID:21326867

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

transferrin receptor

mRNA,protein:increased expression:erythroblast:

RGD

NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257

sideroblastic anemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5'-aminolevulinate synthase 2

onset

ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)

OMIM
ClinVar
CTD
RGD

PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More...

RGD:11035244, RGD:11035243, RGD:11035241

NCBI chr X:22,890,650...22,914,046
Ensembl chr X:19,463,171...19,486,519

G

apurinic/apyrimidinic endodeoxyribonuclease 2

ClinVar Annotator: match by term: Anemia, sideroblastic, 1

NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439

G

solute carrier family 25, member 38

ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332

sideroblastic anemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HscB mitochondrial iron-sulfur cluster co-chaperone

ClinVar Annotator: match by term: Anemia, sideroblastic, 5

PMID:25741868 PMID:32634119

NCBI chr12:51,481,318...51,491,689
Ensembl chr12:45,821,555...45,831,909

sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

PMID:2649490 PMID:3333257 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr 4:141,236,937...141,259,700
Ensembl chr 4:139,680,858...139,703,611

splenic marginal zone lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79b molecule

protein:decreased expression:blood, B cell (human)

RGD

NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625

Thrombocythemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic

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

NCBI chr 5:137,259,288...137,281,540
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 1:236,483,530...236,487,065
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 1:236,408,905...236,468,769
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: MPIG6B-related condition | ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis

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 chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414

G

carboxypeptidase B2

RGD

NCBI chr15:56,967,128...57,015,964
Ensembl chr15:50,557,717...50,606,556

G

erythropoietin receptor

RGD

NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:20,489,678...20,494,257

G

interleukin 1 beta

RGD

NCBI chr 3:137,030,200...137,036,581
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 1:236,408,905...236,468,769
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 5:137,259,288...137,281,540
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 chr18:28,688,274...29,120,227
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
ClinVar Annotator: match by term: Thrombocytosis

NCBI chr12:40,391,755...40,414,336
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:10971406 PMID:11071383 PMID:11133753 PMID:16199547 More...

NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:131,973,895...131,986,797

transient myeloproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

ClinVar Annotator: match by term: TRANSIENT ABNORMAL MYELOPOIESIS | ClinVar Annotator: match by term: Transient myeloproliferative syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:24056718 PMID:25741868 PMID:27993330 PMID:28492532 PMID:14636651

NCBI chr X:17,193,291...17,209,462
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 chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542

X-linked sideroblastic anemia with ataxia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

susceptibility

DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human)

ClinVar
CTD
OMIM
RGD

PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More...

RGD:1598600, RGD:11038735, RGD:11038734

NCBI chr X:73,361,296...73,502,464
Ensembl chr X:69,295,552...69,436,858

G

5'-aminolevulinate synthase 2

ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia

NCBI chr X:22,890,650...22,914,046
Ensembl chr X:19,463,171...19,486,519

Term paths to the root

Path 1
Term	Annotations
disease	19140
disease of anatomical entity	18453
hematopoietic system disease	3837
bone marrow disease	840
Bone Marrow Neoplasms	505
bone marrow cancer +	505
Path 2
Term	Annotations
disease	19140
disease of anatomical entity	18453
Hemic and Lymphatic Diseases	4328
hematopoietic system disease	3837
Hematologic Neoplasms	1088
Bone Marrow Neoplasms	505
bone marrow cancer +	505

paths to the root