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

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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 (464)

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 chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753

G

tumor protein p53

disease_progression

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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 chr 2:80,433,065...80,445,484
Ensembl chr 2:80,433,190...80,438,867

G

fms related receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:bone marrow cell:

NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884

G

nucleophosmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:52,767,263...52,781,862
Ensembl chr16:52,765,298...52,781,771

G

nucleoporin 98 and 96 precursor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:6,319,616...6,419,652
Ensembl chr 9:6,319,650...6,419,660

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

alpha-thalassemia myelodysplasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX chromatin remodeler

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

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

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

AMED syndrome

term browser

Symbol

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 8:121,266,794...121,282,313
Ensembl chr 8:121,266,764...121,282,310

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 chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124

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 chr17:35,985,978...36,067,122
Ensembl chr17:35,985,535...36,067,119

G

fibroblast growth factor receptor 1

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

major facilitator superfamily domain containing 11

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

NCBI chr12:4,774,675...4,800,441
Ensembl chr12:4,774,678...4,801,456

G

RUNX family transcription factor 1

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

NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,851...94,663,017

G

serine and arginine rich splicing factor 2

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

NCBI chr12:4,800,578...4,803,767
Ensembl chr12:4,800,624...4,801,675

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 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299

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 chr 2:140,515,239...140,532,164
Ensembl chr 2:140,515,253...140,531,857

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 7:116,787,346...116,797,477
Ensembl chr 7:116,787,432...116,800,554

G

solute carrier family 25 member 38

ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive

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

NCBI chr13:24,030,571...24,043,866
Ensembl chr13:24,030,653...24,044,782

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 7:116,787,346...116,797,477
Ensembl chr 7:116,787,432...116,800,554

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 5:107,103...110,330
Ensembl chr 5:107,149...111,518

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 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103

G

estrogen receptor 2

NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565

G

heme oxygenase 1

G

microRNA mir-150-1

miRNA:decreased expression:leukocytes

NCBI chr 6:54,580,912...54,580,988
Ensembl chr 6:54,580,912...54,580,988

G

transcobalamin 2

protein:increased expression::

NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,502,715...47,515,965

Bone Marrow Failure Syndrome 1

term browser

Symbol

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 chr 8:55,729,202...55,762,298
Ensembl chr 8:55,729,116...55,762,015

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 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708

G

BCR activator of RhoGEF and GTPase

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

PMID:25741868 PMID:28492532

NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103

G

IKAROS family zinc finger 1

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

NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940

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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

NRAS proto-oncogene, GTPase

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

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

splicing factor 3b subunit 1

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

NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,276,851...101,299,105

chronic myeloid leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family B (MDR/TAP), member 1

susceptibility
treatment

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

PMID:24581936 PMID:26250462

RGD:11081178 RGD:11081180

NCBI chr 9:93,049,955...93,146,469

G

ATP binding cassette subfamily C member 2

treatment

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

NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,582...111,038,898

G

ATP binding cassette subfamily G member 2A

treatment
susceptibility

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

PMID:24123600 PMID:24581936 PMID:26250462

RGD:11081178 RGD:11081180 RGD:11081181

NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,444...130,945,393

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

susceptibility
treatment

ClinVar Annotator: match by term: ABL1-related disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib
DNA:missense mutations: :multiple

OMIM
ClinVar
RGD

PMID:3021820 PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 More...

RGD:11038807 RGD:11038814 RGD:1598673

NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708

G

angiotensin I converting enzyme

NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703

G

angiotensinogen

NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833

G

AKT serine/threonine kinase 1

protein:increased phosphorylation:blood

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: therapeutic

PMID:19503090 PMID:19823023

NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,019...90,907,090

G

aryl hydrocarbon receptor nuclear translocator like

CTD Direct Evidence: marker/mechanism

NCBI chr 2:45,895,637...46,025,174
Ensembl chr 2:45,895,289...45,988,570

G

BCL2 like 1

NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694

G

BCR activator of RhoGEF and GTPase

treatment
susceptibility
disease_progression

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

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

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

NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103

G

baculoviral IAP repeat containing 5

CTD Direct Evidence: therapeutic

NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215

G

carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822

G

caspase 6

treatment

human cells in mouse model

NCBI chr 8:112,519,450...112,534,315
Ensembl chr 8:112,520,629...112,537,045

G

CD36 molecule

protein:increased expression:platelet, cell surface

NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105

G

CD40 molecule

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

NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528

G

cyclin dependent kinase inhibitor 1B

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

NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831

G

cyclin dependent kinase inhibitor 2A

treatment

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

cysteine and histidine rich domain containing 1

OMIM:608232

NCBI chr 9:23,187,770...23,208,592
Ensembl chr 9:23,181,850...23,208,683

G

CRK like proto-oncogene, adaptor protein

protein:increased phosphorylation:blood

NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662

G

cryptochrome circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:13,275,265...13,429,566
Ensembl chr 5:13,275,545...13,364,593

G

cryptochrome circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:16,587,101...16,620,380
Ensembl chr 2:16,587,109...16,620,385

G

cytochrome P450 family 1 subfamily A member 1

treatment

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

NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775

G

cytochrome P450 family 3 subfamily A member 22

treatment
susceptibility

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

PMID:19584153 PMID:21039054

RGD:11353798 RGD:11353810

NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817

G

DNA methyltransferase 1

disease_progression

NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844

G

DNA methyltransferase 3 alpha

disease_progression

NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087

G

DNA methyltransferase 3 beta

disease_progression

NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072

G

E2F transcription factor 1

mRNA:increased expression:blood

NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883

G

ERCC excision repair 2, TFIIH core complex helicase subunit

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

PMID:24955348 PMID:25311495

RGD:11060463 RGD:11252188

NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

Fas cell surface death receptor

susceptibility

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

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

Fas ligand

susceptibility

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

NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

G

fibroblast growth factor receptor 3

mRNA:increased expression:peripheral blood (human)

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

GRB2 associated binding protein 2

disease_progression

protein:increased expression:bone marrow

NCBI chr 9:12,663,658...12,851,423
Ensembl chr 9:12,663,657...12,851,342

G

glutathione peroxidase 1

no_association

DNA:polymorphism: :p.P198L (human)

NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433

G

hes family bHLH transcription factor 1

rat gene in a mouse model

NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237

G

hyaluronan mediated motility receptor

CTD Direct Evidence: marker/mechanism

NCBI chr16:60,290,684...60,332,411
Ensembl chr16:60,290,001...60,331,936

G

heme oxygenase 1

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894

G

interleukin 10

treatment

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 1 receptor antagonist

severity

G

glutathione S-transferase P-like

CTD Direct Evidence: marker/mechanism

NCBI chr 2:5,005,498...5,009,247

G

interleukin-1 beta-like

severity

G

mitogen-activated protein kinase 14

CTD Direct Evidence: therapeutic

NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031

G

MDM2 proto-oncogene

onset

DNA:SNP:promoter:rs2279744(human)

NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739

G

microRNA mir-150-1

miRNA:decreased expression:leukocytes

NCBI chr 6:54,580,912...54,580,988
Ensembl chr 6:54,580,912...54,580,988

G

methylenetetrahydrofolate reductase

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

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

nicastrin

OMIM:608232

NCBI chr 4:90,121,209...90,142,934
Ensembl chr 4:90,119,002...90,142,890

G

NAD(P)H quinone dehydrogenase 1

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

NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:serum (human)

NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293

G

period circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:53,361,863...53,376,723
Ensembl chr12:53,361,889...53,374,248

G

period circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:137,793,419...137,837,854
Ensembl chr15:137,793,422...137,837,070

G

period circadian regulator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:68,487,634...68,548,718

G

PRAME nuclear receptor transcriptional regulator

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

PMID:17157168 PMID:20838376

NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231

G

proteinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:77,520,314...77,526,303
Ensembl chr 2:77,520,314...77,523,563

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,276,851...101,299,105

G

SH2B adaptor protein 3

OMIM:608232

NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606

G

signal-induced proliferation-associated 1

OMIM:608232

NCBI chr 2:6,606,613...6,618,556
Ensembl chr 2:6,606,626...6,618,566

G

SMAD family member 4

mRNA:decreased expression:blood

NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029

G

serine and arginine rich splicing factor 1

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

NCBI chr12:34,278,363...34,282,164
Ensembl chr12:34,272,956...34,282,162

G

signal transducer and activator of transcription 5A

treatment
disease_progression

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

PMID:16522816 PMID:31952546

RGD:151667903 RGD:151667904

NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:15068898 PMID:17157168

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

transforming growth factor beta 1

protein:increased expression:serum

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

ubiquitin specific peptidase 15

mRNA, protein:decreased expression:PBMC (human)

NCBI chr 5:26,964,380...27,082,549
Ensembl chr 5:26,964,553...27,097,444

G

vascular endothelial growth factor A

susceptibility

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

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

chronic myelomonocytic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

DNA:mutations:exon:

NCBI chr17:35,985,978...36,067,122
Ensembl chr17:35,985,535...36,067,119

G

cyclin dependent kinase inhibitor 2B

DNA:altered methylation:5'UTR:

NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056

G

colony stimulating factor 3 receptor

disease_progression

DNA:mutations:multiples:

NCBI chr 6:92,550,159...92,565,798
Ensembl chr 6:92,550,161...92,565,477

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

DNA:mutations:multiple (human)

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

lysine demethylase 6A

NCBI chr X:39,953,764...40,154,197
Ensembl chr X:39,953,814...40,154,029

G

NRAS proto-oncogene, GTPase

onset

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

tet methylcytosine dioxygenase 2

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

NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299

chronic neutrophilic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

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

PMID:23604229 PMID:24081659

RGD:10450482 RGD:10450483

NCBI chr 6:92,550,159...92,565,798
Ensembl chr 6:92,550,161...92,565,477

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 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,955,997

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,603

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 7:117,506,298...117,586,651
Ensembl chr 7:117,506,302...117,586,545

G

bradykinin receptor B1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 7:117,491,350...117,492,410
Ensembl chr 7:117,491,350...117,492,410

G

bradykinin receptor B2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,713...117,472,005

G

chromosome 7 C14orf132 homolog

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 7:117,242,442...117,291,577
Ensembl chr 7:117,242,760...117,290,347

G

calreticulin

severity

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

OMIM
ClinVar
RGD

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

NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132

G

CD36 molecule

protein:increased expression:platelet, cell surface

NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105

G

CD40 ligand

protein:increased expression:serum (human)

NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709

G

elastase, neutrophil expressed

protein:increased expression:plasma:

NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 7:117,586,742...117,607,575
Ensembl chr 7:117,586,764...117,607,564

G

Janus kinase 2

severity

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

CTD
MouseDO
RGD

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

NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148

G

MPL proto-oncogene, thrombopoietin receptor

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

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

NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625

G

MYB proto-oncogene, transcription factor

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

NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:296,399...322,967
Ensembl chr 3:301,584...321,712

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

Ensembl chr 5:8,986,462...9,007,435

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 chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 7:116,933,785...116,939,353
Ensembl chr 7:116,934,948...116,939,320

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

thrombopoietin

ClinVar Annotator: match by term: Thrombocythemia 1

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

NCBI chr13:122,259,654...122,267,860
Ensembl chr13:122,260,215...122,267,860

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222

G

von Willebrand factor

NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,517,555...64,655,938

familial chronic myelocytic leukemia-like syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon regulatory factor 8

OMIM:600080

NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406

Familial Myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

NCBI chr X:42,898,431...42,905,939
Ensembl chr X:42,898,442...42,905,976

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Familial myelofibrosis

NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606

G

vacuolar protein sorting 45 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 4:98,939,585...99,010,554
Ensembl chr 4:98,939,584...99,010,585

Ghosal hematodiaphyseal syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thromboxane A synthase 1

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

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

NCBI chr18:9,717,291...9,886,699
Ensembl chr18:9,717,294...9,886,681

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 chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327

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

juvenile myelomonocytic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 12

disease_progression

NCBI chr 1:14,904,109...15,017,016
Ensembl chr 1:14,904,116...15,016,997

G

Rho GTPase activating protein 26

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

NCBI chr 2:144,301,234...144,778,090
Ensembl chr 2:144,301,413...144,778,072

G

ASXL transcriptional regulator 1

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chr17:35,985,978...36,067,122
Ensembl chr17:35,985,535...36,067,119

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834

G

colony stimulating factor 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:9389708 PMID:22315502

NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

fms related receptor tyrosine kinase 3

OMIM:607785

NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:71,981,139...71,997,626
Ensembl chr13:71,984,067...71,997,619

G

Janus kinase 3

disease_progression

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:1875403 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 More...

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

neurofibromin 1

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

Rac family small GTPase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:10,553,986...10,571,082
Ensembl chr 5:10,553,433...10,573,014

G

RAS related

CTD Direct Evidence: marker/mechanism

NCBI chr 6:54,680,596...54,684,714
Ensembl chr 6:54,680,600...54,684,719

G

RAS related 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:44,890,129...44,961,003

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:23832011 PMID:26457647

NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,851...94,663,017

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr X:12,336,635...12,365,071
Ensembl chr X:12,336,677...12,367,227

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 protein 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 9:72,965,088...72,999,261
Ensembl chr 9:72,964,869...72,999,258

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 2A

treatment

PMID:16917002 PMID:26314844

RGD:11081075 RGD:11081144

NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,444...130,945,393

G

angiotensin I converting enzyme

protein:increased activity:serum

NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703

G

albumin

disease_progression

NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr12:60,507,662...60,530,239
Ensembl chr12:60,507,667...60,529,733

G

apolipoprotein E

treatment

NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:187,385,324...187,452,558
Ensembl chr 1:187,385,332...187,452,540

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:56,954,838...56,972,435

G

beta-2-microglobulin

ClinVar Annotator: match by term: Myelomatosis

NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr15:117,049,483...117,135,889
Ensembl chr15:117,047,845...117,175,851

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879

G

BCL2 like 1

CTD Direct Evidence: marker/mechanism

PMID:12429644 PMID:14656874

NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694

G

BCL2 like 10

protein:increased expression:bone marrow :

NCBI chr 1:119,594,004...119,607,709

G

BCL6 corepressor like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:106,547,754...106,613,130
Ensembl chr X:106,549,139...106,612,894

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:140,362,123...140,371,951
Ensembl chr14:140,362,127...140,371,907

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Myelomatosis

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

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:90,815,194...90,817,936
Ensembl chr 5:90,815,202...90,817,142

G

Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834

G

chromobox 7

susceptibility

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

NCBI chr 5:9,070,312...9,090,467
Ensembl chr 5:9,070,353...9,087,634

G

chemokine (C-C motif) ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026

G

cellular communication network factor 1

exacerbates

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

PMID:25061178 PMID:28035364

RGD:329845528 RGD:329845546

NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150

G

cyclin D1

susceptibility

ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cyclin D2

NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571

G

cyclin D3

NCBI chr 7:37,087,336...37,182,462
Ensembl chr 7:37,082,097...37,181,366

G

CD40 molecule

treatment

human cells in a mouse model

NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528

G

CD40 ligand

treatment
disease_progression

protein:increased expression:serum (human)

PMID:15565183 PMID:22403003 PMID:27243341

RGD:11352240 RGD:11352251 RGD:11352268

NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709

G

CD46 molecule, complement regulatory protein

protein:increased expression:plasma cell (human)

NCBI chr 9:135,025,439...135,078,910

G

CD86 molecule

severity

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

PMID:16611307 PMID:22705596

NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310

G

cyclin dependent kinase 4

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

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

NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061

G

cyclin dependent kinase inhibitor 2A

disease_progression

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

PMID:12681979 PMID:16008847

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

cyclin dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:161,160,290...161,166,681
Ensembl chr 6:161,160,297...161,166,529

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131

G

cereblon

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:59,733,503...59,757,776
Ensembl chr13:59,730,639...59,757,860

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:34,058,091...34,121,939
Ensembl chr 6:34,059,081...34,121,264

G

cytochrome P450 family 1 subfamily A member 1

susceptibility

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

NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775

G

cytochrome P450 2C49

treatment
no_association

DNA:polymorphisms: :

PMID:17666363 PMID:20684753

RGD:11352748 RGD:11352804

NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455

G

cytochrome P450 family 2 subfamily D member 6

no_association

DNA:polymorphisms: :

NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642

G

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

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,963

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087

G

desmoglein 2

disease_progression

NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340

G

eukaryotic translation initiation factor 1A X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:16,429,625...16,449,581
Ensembl chr X:16,429,628...16,449,556

G

endoglin

severity

protein:increased expression:serum:

NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783

G

epoxide hydrolase 1

susceptibility
no_association

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

PMID:16949155 PMID:19736056 PMID:24521996

RGD:11252116 RGD:11252121 RGD:11252122

NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression
sexual_dimorphism

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

PMID:17131345 PMID:22183071

RGD:11252199 RGD:401827277

NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553

G

ETS2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:49,678,858...49,686,422
Ensembl chr 6:49,678,888...49,685,538

G

Fas ligand

disease_progression

NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Myelomatosis

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

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

fibrinogen gamma chain

treatment

NCBI chr 8:74,553,040...74,562,151
Ensembl chr 8:74,553,105...74,563,688

G

fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718

G

glutathione peroxidase 1

NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301

G

homeostatic iron regulator

susceptibility

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

NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000

G

hexokinase 1

NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924

G

HRas proto-oncogene, GTPase

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

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

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

PMID:7686390 PMID:7834632

RGD:11354981 RGD:11520780

NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205

G

insulin like growth factor 2 receptor

protein:increased expression:serum,urine:

NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548

G

interleukin 10

disease_progression

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

PMID:11022130 PMID:11307152

RGD:11041888 RGD:11049458

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 1 alpha

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

PMID:1777241 PMID:17926179 PMID:25469832

RGD:11049156 RGD:11051973 RGD:11059513

NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121

G

interleukin 1 receptor antagonist

no_association

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

PMID:10848780 PMID:17926179

RGD:11051973 RGD:11522764

G

interleukin 4 receptor

susceptibility

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

NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585

G

interferon regulatory factor 4

treatment
disease_progression

DNA:translocation
CTD Direct Evidence: marker/mechanism

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

RGD:11526161 RGD:11530019 RGD:11530055

NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609

G

interferon regulatory factor 8

DNA:hypermethylation

NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:45,968,812...46,003,215
Ensembl chr X:45,968,814...46,003,215

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr 5:15,049,827...15,091,622

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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,604

G

DNA ligase 4

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

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

NCBI chr11:75,537,027...75,547,711
Ensembl chr11:75,537,036...75,547,716

G

E3 SUMO-protein ligase RanBP2

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

NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495

G

tumor necrosis factor receptor superfamily member 10B-like

treatment

NCBI chr14:7,344,788...7,371,086

G

glutathione S-transferase P-like

disease_progression
treatment
no_association

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

PMID:17512053 PMID:18061666 PMID:23953887

RGD:10755413 RGD:10755419 RGD:11075094

NCBI chr 2:5,005,498...5,009,247

G

interleukin-1 beta-like

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

G

leucine rich repeat containing 56

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

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

NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699

G

MAF bZIP transcription factor

OMIM:254500

NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,782...8,485,030

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chr 4:98,562,092...98,567,014
Ensembl chr 4:98,534,812...98,567,006

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chr 3:38,934,573...38,948,609

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 8:105,019,539...105,053,603
Ensembl chr 8:105,015,420...105,053,563

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 7:77,661,945...77,679,459
Ensembl chr 7:77,662,058...77,695,934

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:129,590,645...129,697,434
Ensembl chr 1:129,594,795...129,697,408

G

microRNA mir-155

disease_progression

miRNA:decreased expression:serum

PMID:25497370 PMID:28446295

RGD:21079441 RGD:24922226

NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902

G

microRNA mir-17

disease_progression

miRNA:increased expression:plasma cell

NCBI chr11:60,734,656...60,734,732
Ensembl chr11:60,734,656...60,734,732

G

microRNA mir-19a

CTD Direct Evidence: marker/mechanism

NCBI chr11:60,734,939...60,735,020
Ensembl chr11:60,734,939...60,735,020

G

microRNA mir-27a

CTD Direct Evidence: marker/mechanism

NCBI chr 2:65,308,294...65,308,375
Ensembl chr 2:65,308,294...65,308,375

G

microRNA mir-92b

CTD Direct Evidence: marker/mechanism

NCBI chr 4:94,624,285...94,624,364
Ensembl chr 4:94,624,285...94,624,364

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:32,401,623...32,423,614
Ensembl chr13:32,409,555...32,421,920

G

methylenetetrahydrofolate reductase

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

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

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

NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,228...74,270,783

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 4:94,626,317...94,631,194

G

nuclear receptor corepressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr14:28,642,774...28,819,404
Ensembl chr14:28,624,702...28,819,404

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

NFKB inhibitor alpha

DNA:polymorphism

PMID:12377412 PMID:16540234

RGD:2298895 RGD:2298898

NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575

G

notch receptor 2

protein:increased expression:bone marrow (human)

NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195

G

NADPH oxidase 1

protein:increased expression:serum

NCBI chr X:82,540,664...82,575,811
Ensembl chr X:82,540,667...82,586,532

G

NAD(P)H quinone dehydrogenase 1

no_association

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

PMID:16949155 PMID:18061666 PMID:18156703

RGD:10755419 RGD:10769348

NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590

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 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:14,089,584...14,177,584
Ensembl chr 5:14,102,006...14,177,584

G

P2Y receptor family member 8

ClinVar Annotator: match by term: Multiple myeloma

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:59,637,363...59,652,075
Ensembl chr 2:59,637,371...59,652,073

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105

G

RNA polymerase I subunit G

sexual_dimorphism

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

NCBI chr 6:51,780,709...51,783,696
Ensembl chr 6:51,781,347...51,785,104

G

paraoxonase 1

treatment
susceptibility
severity

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

PMID:15136237 PMID:22348216 PMID:25520116

RGD:10450846 RGD:11040544 RGD:11552578

NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723

G

PRAME nuclear receptor transcriptional regulator

severity

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

PMID:16179254 PMID:24791872

NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989

G

psoriasis susceptibility 1 candidate 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,540,341...23,543,136
Ensembl chr 7:23,540,344...23,542,930

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415

G

RB binding protein 8, endonuclease

exacerbates

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

NCBI chr 6:107,923,921...108,020,067
Ensembl chr 6:107,924,002...108,022,669

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

NCBI chr13:80,380,958...80,407,328
Ensembl chr13:80,380,962...80,407,458

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913

G

roundabout guidance receptor 1

ameliorates

NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:29,625,786...29,753,619
Ensembl chr 1:29,745,114...29,753,602

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560

G

secreted protein acidic and cysteine rich

disease_progression

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

PMID:18172295 PMID:23699600

NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161

G

secreted phosphoprotein 1

NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351

G

telomerase reverse transcriptase

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:68,918,896...69,020,406
Ensembl chr 3:68,918,933...69,020,986

G

transferrin receptor

treatment

NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276

G

transforming growth factor beta 1

disease_progression

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

PMID:22560388 PMID:23699600

RGD:11073605 RGD:11073614

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

tumor necrosis factor

no_association
treatment

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

PMID:12200397 PMID:12815949

RGD:10449450 RGD:10449453

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

NCBI chr12:61,245,976...61,270,154
Ensembl chr12:61,246,062...61,270,146

G

TNF receptor superfamily member 17

NCBI chr 3:31,137,672...31,141,862
Ensembl chr 3:31,137,682...31,141,735

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073

G

tumor protein p53

disease_progression
treatment

protein:increased expression:nucleus:
DNA:deletion: :
DNA:polymorphism:cds:p.R72P(human)
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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:59,647,835...59,736,054
Ensembl chr13:59,710,995...59,735,400

G

thymidylate synthetase

no_association
treatment

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

PMID:17512053 PMID:17655928

RGD:11075094 RGD:11075095

NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:25,207,890...25,751,465
Ensembl chr13:25,209,368...25,751,500

G

vascular endothelial growth factor A

susceptibility

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

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

xanthine dehydrogenase

protein:increased expression:serum

NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169

G

exportin 5

severity

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

NCBI chr 7:38,530,704...38,569,558
Ensembl chr 7:38,531,919...38,569,582

G

X-ray repair cross complementing 3

disease_progression

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

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

NCBI chr 2:91,358,348...91,643,697
Ensembl chr 2:91,384,391...91,811,208

G

X-ray repair cross complementing 5

susceptibility

DNA:SNP:3'-UTR (human)

NCBI chr15:118,354,943...118,451,974
Ensembl chr15:118,354,796...118,451,960

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,226...32,925,606

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chr17:62,329,302...62,341,312
Ensembl chr17:62,329,302...62,341,413

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,132,168...121,170,699
Ensembl chr 7:121,132,191...121,170,697

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 chr 2:134,210,915...134,278,860
Ensembl chr 2:134,210,917...134,278,820

G

actin related protein 2/3 complex subunit 1B

treatment

NCBI chr 3:6,329,737...6,342,641
Ensembl chr 3:6,220,939...6,342,637

G

ASXL transcriptional regulator 1

disease_progression
treatment

ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome
DNA:mutations:cds:

OMIM
ClinVar
RGD

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

RGD:11038707 RGD:11038769

NCBI chr17:35,985,978...36,067,122
Ensembl chr17:35,985,535...36,067,119

G

autophagy related 7

OMIM:614286

NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

BRCA1 associated deubiquitinase 1

OMIM:614286

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

BCL2 like 10

susceptibility
treatment

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

PMID:21760590 PMID:24047476

RGD:11058140 RGD:14392809

NCBI chr 1:119,594,004...119,607,709

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564

G

CD40 molecule

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

NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528

G

cyclin dependent kinase inhibitor 1B

DNA:deletion: :

NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831

G

cyclin dependent kinase inhibitor 2A

severity

DNA:hypermethylation: :

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

cyclin dependent kinase inhibitor 2B

disease_progression
treatment

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

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

RGD:11251750 RGD:11252169 RGD:11252195

NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056

G

CASP8 and FADD like apoptosis regulator

CTD Direct Evidence: marker/mechanism

PMID:14562111 PMID:16105982

NCBI chr15:104,780,744...104,835,631
Ensembl chr15:104,781,616...104,835,630

G

CREB binding protein

OMIM:614286

NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

colony stimulating factor 3 receptor

disease_progression

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

PMID:12670333 PMID:15644419

RGD:10450471 RGD:10450504

NCBI chr 6:92,550,159...92,565,798
Ensembl chr 6:92,550,161...92,565,477

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:140,682,776...140,869,828
Ensembl chr 2:140,682,371...140,871,334

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:27,724,644...27,954,708
Ensembl chr10:27,724,648...27,954,350

G

DEAD-box helicase 41

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

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

NCBI chr 2:80,433,065...80,445,484
Ensembl chr 2:80,433,190...80,438,867

G

DEAD-box helicase 42

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

NCBI chr12:15,114,199...15,165,257
Ensembl chr12:15,114,201...15,165,177

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844

G

DNA methyltransferase 3 alpha

disease_progression

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

PMID:21415852 PMID:22066015 PMID:32431489

RGD:11041122 RGD:11041124

NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087

G

DNA methyltransferase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072

G

early growth response 1

OMIM:614286

NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296

G

erythropoietin

CTD Direct Evidence: therapeutic

PMID:12670338 PMID:16076383

NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936

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 chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression

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

PMID:25154760 PMID:26482462

RGD:11075607 RGD:11252197

NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553

G

ETS variant transcription factor 6

DNA:deletion: :
DNA:translocation: :

PMID:9171997 PMID:12203785 PMID:18476590

RGD:10450601 RGD:10450605 RGD:1581019

NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,523,433...60,776,750

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)

PMID:20601954 PMID:21125401 PMID:22869879

RGD:10450880 RGD:10450887

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

Fas cell surface death receptor

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

PMID:9557605 PMID:15686130

RGD:11049447 RGD:11049448

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

Fas ligand

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

PMID:9557605 PMID:15686130

RGD:11049447 RGD:11049448

NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

G

Fc fragment of IgG receptor IIIa

NCBI chr 4:88,948,357...88,956,513

G

fms related receptor tyrosine kinase 3

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

NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358

G

GATA binding protein 1

severity
disease_progression

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

RGD
MouseDO
CTD

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

RGD:10450734 RGD:10450752 RGD:10450753

NCBI chr X:42,898,431...42,905,939
Ensembl chr X:42,898,442...42,905,976

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

RGD
OMIM
ClinVar

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

NCBI chr13:71,981,139...71,997,626
Ensembl chr13:71,984,067...71,997,619

G

growth factor independent 1 transcriptional repressor

mRNA:decreased expression:bone marrow:

NCBI chr 4:124,619,887...124,629,638
Ensembl chr 4:124,621,261...124,629,638

G

G protein subunit beta 1

ClinVar Annotator: match by term: Myelodysplastic syndromes

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

NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411

G

homeostatic iron regulator

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

PMID:12624489 PMID:17001480

NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000

G

isocitrate dehydrogenase (NADP(+)) 1

disease_progression

DNA:mutation: :

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

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 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Myelodysplasia

PMID:25741868 PMID:28492532

NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142

G

integrin subunit beta 3

NCBI chr12:16,694,466...16,752,228
Ensembl chr12:16,693,514...16,752,292

G

lysine methyltransferase 2E (inactive)

NCBI chr 9:104,876,301...105,007,161
Ensembl chr 9:104,911,821...105,007,084

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

leucine rich repeat containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chr10:24,358,946...24,454,430
Ensembl chr10:24,359,774...24,454,428

G

sterile alpha motif domain-containing protein 9

ClinVar Annotator: match by term: Myelodysplastic syndrome

PMID:28492532 PMID:30046003 PMID:37160314

NCBI chr 9:72,965,088...72,999,261
Ensembl chr 9:72,964,869...72,999,258

G

glutathione S-transferase P-like

susceptibility

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

NCBI chr 2:5,005,498...5,009,247

G

interleukin-1 beta-like

mRNA:increased expression:bone marrow

G

LYL1 basic helix-loop-helix family member

CTD Direct Evidence: marker/mechanism

NCBI chr 2:65,950,608...65,956,423
Ensembl chr 2:65,952,519...65,955,011

G

macroH2A.1 histone

OMIM:614286

NCBI chr 2:137,535,128...137,623,886
Ensembl chr 2:137,534,138...137,623,886

G

MDM2 proto-oncogene

no_association

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

NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chr 3:38,934,573...38,948,609

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,228...74,270,783

G

MYB proto-oncogene like 2

OMIM:614286

NCBI chr17:46,256,245...46,287,929
Ensembl chr17:46,256,257...46,287,927

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

G

nucleophosmin 1

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

PMID:15659725 PMID:20026798 PMID:32581362

NCBI chr16:52,767,263...52,781,862
Ensembl chr16:52,765,298...52,781,771

G

NAD(P)H quinone dehydrogenase 1

no_association

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

NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590

G

NRAS proto-oncogene, GTPase

disease_progression

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

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

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

phospholipase C beta 1

severity
treatment

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

PMID:16820933 PMID:19805378 PMID:21109771

RGD:11535164 RGD:11535956

NCBI chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,313

G

prostate transmembrane protein, androgen induced 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:57,999,287...58,054,329
Ensembl chr17:57,999,287...58,054,118

G

DNA polymerase gamma, catalytic subunit

OMIM:614286

NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844

G

PRAME nuclear receptor transcriptional regulator

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

NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231

G

RAP1 GTPase activating protein

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

NCBI chr 6:79,664,486...79,735,361
Ensembl chr 6:79,664,485...79,735,361

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Myelodysplasia

PMID:18723428 PMID:25741868

NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia | ClinVar Annotator: match by term: SF3B1-related condition

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

NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,276,851...101,299,105

G

solute carrier family 22 member 5

mRNA:decreased expression:PBMCs (human)

NCBI chr 2:134,660,741...134,847,575
Ensembl chr 2:134,660,808...134,686,219

G

sphingomyelin phosphodiesterase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:28,938,287...29,025,397
Ensembl chr 6:28,938,290...29,025,357

G

sphingosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,114,946...5,122,580
Ensembl chr12:5,114,947...5,120,083

G

serine and arginine rich splicing factor 11

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

NCBI chr 6:142,621,904...142,668,107
Ensembl chr 6:142,621,924...142,642,073

G

serine and arginine rich splicing factor 2

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

NCBI chr12:4,800,578...4,803,767
Ensembl chr12:4,800,624...4,801,675

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

NCBI chr X:101,476,117...101,617,405
Ensembl chr X:101,478,247...101,617,563

G

telomerase reverse transcriptase

severity

ClinVar Annotator: match by term: Myelodysplasia

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

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

tet methylcytosine dioxygenase 2

severity

ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: TET2-related condition
DNA:mutations:multiple

OMIM
ClinVar
RGD

PMID:23099237 PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330

G

tumor necrosis factor

disease_progression

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

PMID:10697556 PMID:15888251

RGD:10450530 RGD:10450881

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

tumor protein p53

disease_progression
no_association
treatment

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

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

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

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

U2 small nuclear RNA auxiliary factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:206,244,772...206,257,697
Ensembl chr13:206,244,773...206,257,702

G

X-ray repair cross complementing 1

no_association

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

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

G

zinc finger protein, FOG family member 2

NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287

G

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

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

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

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

NCBI chr X:12,336,635...12,365,071
Ensembl chr X:12,336,677...12,367,227

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 chr17:62,126,026...62,174,095
Ensembl chr17:62,125,122...62,174,071

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:20601953 PMID:24218139

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

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

PMID:21712540 PMID:23619563

RGD:11038705 RGD:11038768

NCBI chr17:35,985,978...36,067,122
Ensembl chr17:35,985,535...36,067,119

G

autophagy related 2B

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 7:117,506,298...117,586,651
Ensembl chr 7:117,506,302...117,586,545

G

bradykinin receptor B1

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 7:117,491,350...117,492,410
Ensembl chr 7:117,491,350...117,492,410

G

bradykinin receptor B2

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,713...117,472,005

G

chromosome 7 C14orf132 homolog

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 7:117,242,442...117,291,577
Ensembl chr 7:117,242,760...117,290,347

G

calreticulin

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

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

NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132

G

ERCC excision repair 1, endonuclease non-catalytic subunit

NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

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

NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

PMID:20601953 PMID:21921040

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:multiple:

NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358

G

GATA binding protein 1

OMIM:254450

NCBI chr X:42,898,431...42,905,939
Ensembl chr X:42,898,442...42,905,976

G

GSK3B interacting protein

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 7:117,586,742...117,607,575
Ensembl chr 7:117,586,764...117,607,564

G

homeostatic iron regulator

susceptibility
no_association

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

NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000

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 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479

G

Janus kinase 2

treatment

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

OMIM
ClinVar
RGD

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

NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148

G

lysine methyltransferase 2A

exacerbates

DNA:mutations:multiple (human)

NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884

G

MPL proto-oncogene, thrombopoietin receptor

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

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

NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625

G

MYB proto-oncogene, transcription factor

OMIM:254450

NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999

G

nuclear receptor corepressor 2

OMIM:254450

NCBI chr14:28,642,774...28,819,404
Ensembl chr14:28,624,702...28,819,404

G

SH2B adaptor protein 3

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

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

NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:25741868 PMID:26936507 PMID:32581362

NCBI chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 7:116,933,785...116,939,353
Ensembl chr 7:116,934,948...116,939,320

G

transforming growth factor beta 1

treatment

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

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

tumor protein p53

disease_progression

associated with Myelodysplastic Syndromes;

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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 chr13:69,403,995...69,434,829
Ensembl chr13:69,404,021...69,434,829

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 chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564

G

microRNA mir-150-1

miRNA:decreased expression:leukocytes

NCBI chr 6:54,580,912...54,580,988
Ensembl chr 6:54,580,912...54,580,988

Myeloid Leukemia, Chronic-Phase

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

disease_progression

DNA:hypermethylation:promoter

PMID:11559572 PMID:19344397

RGD:11038809 RGD:11038811

NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708

G

BCR activator of RhoGEF and GTPase

disease_progression

NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103

G

cytochrome P450 family 3 subfamily A member 22

treatment

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

NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs11615 (human)

NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984

G

growth factor independent 1 transcriptional repressor

disease_progression

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

PMID:19887785 PMID:23411466

RGD:11040457 RGD:11040461

NCBI chr 4:124,619,887...124,629,638
Ensembl chr 4:124,621,261...124,629,638

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539

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

NCBI chr10:65,650,223...65,679,878
Ensembl chr10:65,576,464...65,678,248

G

autophagy related 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:117,506,298...117,586,651
Ensembl chr 7:117,506,302...117,586,545

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103

G

calreticulin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132

G

Cbl proto-oncogene

disease_progression

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

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

RGD:11038798 RGD:11038808

NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834

G

CD36 molecule

protein:increased expression:platelet, plasma membrane

NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105

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 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087

G

early growth response 1

NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,523,433...60,776,750

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

coagulation factor III, tissue factor

treatment

NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666

G

fibroblast growth factor receptor 1

treatment

CTD Direct Evidence: marker/mechanism

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

RGD:11352309 RGD:11352667

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

FGFR1 oncogene partner 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:46,794,118...46,824,062
Ensembl chr 5:46,794,110...46,824,153

G

fms related receptor tyrosine kinase 3

NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358

G

growth factor independent 1 transcriptional repressor

NCBI chr 4:124,619,887...124,629,638
Ensembl chr 4:124,621,261...124,629,638

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539

G

glutathione peroxidase 1

DNA:polymorphism: :p.P198L (human)

NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433

G

GSK3B interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 7:117,586,742...117,607,575
Ensembl chr 7:117,586,764...117,607,564

G

heat shock protein family A (Hsp70) member 5

NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894

G

insulin like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058

G

insulin like 6

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chr 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479

G

interferon regulatory factor 4

NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609

G

interferon regulatory factor 8

NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406

G

Janus kinase 2

severity
no_association

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

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

RGD:10449376 RGD:10449393

NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148

G

KRAS proto-oncogene, GTPase

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

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

MDS1 and EVI1 complex locus

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

PMID:9044825 PMID:29047144

NCBI chr13:107,753,207...108,336,136
Ensembl chr13:107,754,482...108,335,702

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625

G

methylenetetrahydrofolate reductase

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

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

nucleophosmin 1

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

NCBI chr16:52,767,263...52,781,862
Ensembl chr16:52,765,298...52,781,771

G

NAD(P)H quinone dehydrogenase 1

NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590

G

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

NCBI chr 7:1,792,745...1,805,916
Ensembl chr 7:1,792,876...1,806,301

G

NRAS proto-oncogene, GTPase

disease_progression

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

RUNX family transcription factor 1

NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

zinc finger MYM-type containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:661,314...731,030
Ensembl chr11:661,351...731,029

myeloproliferative disorder with eosinophilia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor beta

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

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

NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647

myeloproliferative neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

NCBI chr17:35,985,978...36,067,122
Ensembl chr17:35,985,535...36,067,119

G

colony stimulating factor 3 receptor

NCBI chr 6:92,550,159...92,565,798
Ensembl chr 6:92,550,161...92,565,477

G

cut like homeobox 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm

NCBI chr 3:9,317,145...9,669,999
Ensembl chr 3:9,317,140...9,669,998

G

DEAD-box helicase 41

susceptibility

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

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

NCBI chr 2:80,433,065...80,445,484
Ensembl chr 2:80,433,190...80,438,867

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,523,433...60,776,750

G

inositol-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:35101336

NCBI chr10:14,362,883...14,469,586

G

Janus kinase 2

NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148

G

neurofibromin 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

notch receptor 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

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 chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441

G

platelet derived growth factor receptor beta

DNA:translocation: :

NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr14:99,929,590...100,021,619

G

transcription factor 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351

G

tet methylcytosine dioxygenase 2

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

NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299

myopathy, lactic acidosis, and sideroblastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FYVE, RhoGEF and PH domain containing 4

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

PMID:25741868 PMID:28492532

NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028

G

pseudouridine synthase 1

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

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

NCBI chr14:23,400,575...23,418,470
Ensembl chr14:23,400,584...23,418,132

G

tyrosyl-tRNA synthetase 2

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

PMID:25741868 PMID:28492532

NCBI chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818

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 chr14:23,400,575...23,418,470
Ensembl chr14:23,400,584...23,418,132

myopathy, lactic acidosis, and sideroblastic anemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FYVE, RhoGEF and PH domain containing 4

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

PMID:25741868 PMID:28492532

NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028

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 chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818

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:9,120...9,800
Ensembl chr MT:9,120...9,800

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 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834

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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

paroxysmal nocturnal hemoglobinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

protein:increased processing:erythrocyte

NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228

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 1:260,995,662...261,088,868
Ensembl chr 1:260,995,668...261,133,483

G

C-X-C motif chemokine receptor 4

treatment

NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232

G

phosphatidylinositol glycan anchor biosynthesis class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria

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

NCBI chr X:11,871,746...11,886,519
Ensembl chr X:11,871,750...11,886,438

G

phosphatidylinositol glycan anchor biosynthesis class T

CTD Direct Evidence: marker/mechanism

NCBI chr17:47,735,339...47,750,052
Ensembl chr17:47,735,088...47,750,195

Paroxysmal Nocturnal Hemoglobinuria 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

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

NCBI chr X:11,871,746...11,886,519
Ensembl chr X:11,871,750...11,886,438

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chr17:47,735,339...47,750,052
Ensembl chr17:47,735,088...47,750,195

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 chr17:47,735,339...47,750,052
Ensembl chr17:47,735,088...47,750,195

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528

G

telomerase reverse transcriptase

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

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 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552

G

BCL2 like 1

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

NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694

G

CD36 molecule

protein:increased expression:platelet, cell surface

NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105

G

elastase, neutrophil expressed

protein:increased expression:plasma:

PMID:12186827 PMID:18768782

RGD:10450556 RGD:10450557

NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027

G

erythropoietin receptor

mRNA:decreased expression:blood cell:

NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984

G

homeostatic iron regulator

no_association
susceptibility

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

NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000

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 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479

G

Janus kinase 2

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

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

NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148

G

hemoglobin subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,482,353...41,483,564

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 chr13:72,568,130...72,579,688
Ensembl chr13:72,573,339...72,579,192

G

acyl-CoA dehydrogenase family member 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:73,733,508...73,831,496
Ensembl chr13:73,733,524...73,831,444

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 chr13:71,374,926...71,422,431
Ensembl chr13:71,374,944...71,427,126

G

atypical chemokine receptor 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:73,773,862...73,777,770
Ensembl chr13:73,772,392...73,777,805

G

acid phosphatase 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:73,471,837...73,530,778
Ensembl chr13:73,471,889...73,530,011

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 chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347

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 7:53,748,585...53,794,777
Ensembl chr 7:53,748,653...53,794,706

G

angiomotin like 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:75,490,936...75,507,360
Ensembl chr13:75,490,942...75,509,420

G

anaphase promoting complex subunit 13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:75,599,797...75,605,667
Ensembl chr13:75,599,800...75,605,140

G

asteroid homolog 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:1,435,714...1,457,733
Ensembl chr13:1,435,678...1,449,855

G

ATPase secretory pathway Ca2+ transporting 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr13:1,461,562...1,580,035
Ensembl chr13:1,438,615...1,612,676

G

beaded filament structural protein 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:74,557,878...74,639,459
Ensembl chr13:74,558,297...74,639,455

G

calcium sensing receptor

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252

G

coiled-coil domain containing 14

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

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

NCBI chr13:136,439,015...136,502,604
Ensembl chr13:136,438,967...136,486,496

G

CD86 molecule

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310

G

CDV3 homolog

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:74,705,351...74,721,154
Ensembl chr13:74,705,619...74,721,142

G

centrosomal protein 63

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:75,605,622...75,707,087
Ensembl chr13:75,605,675...75,707,102

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 7:53,909,353...53,949,648
Ensembl chr 7:53,921,369...53,949,622

G

cilia and flagella associated protein 92 (putative)

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:71,420,886...71,493,284
Ensembl chr13:71,423,231...71,492,763

G

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

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

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

NCBI chr13:73,102,168...73,262,956
Ensembl chr13:73,109,927...73,254,981

G

carbohydrate sulfotransferase 13

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:73,350,670...73,366,374
Ensembl chr13:73,350,671...73,366,085

G

CCHC-type zinc finger nucleic acid binding protein

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:71,634,552...71,707,027
Ensembl chr13:71,630,566...71,646,563

G

collagen type VI alpha 5 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr13:2,029,543...2,174,404
Ensembl chr13:2,029,959...2,174,384

G

collagen type VI alpha 6 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr13:1,817,475...1,985,968
Ensembl chr13:1,817,406...1,985,799

G

COPI coat complex subunit gamma 1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:71,707,097...71,730,402
Ensembl chr13:71,672,733...71,730,399

G

copine 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:367,801...963,775
Ensembl chr13:367,651...963,773

G

DnaJ heat shock protein family (Hsp40) member B8

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

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

NCBI chr13:72,010,213...72,015,376
Ensembl chr13:72,013,182...72,013,877

G

DnaJ heat shock protein family (Hsp40) member C13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:73,573,887...73,707,951
Ensembl chr13:73,573,926...73,707,948

G

deltex E3 ubiquitin ligase 3L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:137,950,266...137,961,381
Ensembl chr13:137,950,272...137,961,343

G

ELL associated factor 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,632,541...138,681,607
Ensembl chr13:138,648,270...138,681,613

G

eukaryotic elongation factor, selenocysteine-tRNA specific

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

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

NCBI chr13:72,041,409...72,196,345
Ensembl chr13:72,020,305...72,195,930

G

EF-hand calcium binding domain 12

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:68,794,489...68,813,999
Ensembl chr13:68,794,498...68,813,987

G

EF-hand and coiled-coil domain containing 1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:71,504,832...71,538,394
Ensembl chr13:71,505,035...71,540,592

G

EPH receptor B1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:75,904,678...76,351,540
Ensembl chr13:75,905,676...76,345,534

G

family with sequence similarity 162 member A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,115,499...138,151,828
Ensembl chr13:138,115,509...138,151,738

G

F-box protein 40

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,881,528...138,905,410
Ensembl chr13:138,881,513...138,905,356

G

follistatin like 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:139,847,246...139,901,972
Ensembl chr13:139,847,438...139,901,965

G

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 chr13:71,981,139...71,997,626
Ensembl chr13:71,984,067...71,997,619

G

golgin B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,754,803...138,847,254
Ensembl chr13:138,754,789...138,847,245

G

glycoprotein IX platelet

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:71,558,768...71,565,134
Ensembl chr13:71,560,012...71,562,774

G

general transcription factor IIE subunit 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:139,565,891...139,609,483
Ensembl chr13:139,565,908...139,609,447

G

H1.10 linker histone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:71,760,464...71,762,035
Ensembl chr13:71,760,467...71,761,839

G

H1.8 linker histone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:68,921,491...68,943,061
Ensembl chr13:68,938,024...68,942,744

G

3-hydroxyacyl-CoA dehydratase 2

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

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

NCBI chr13:136,834,103...136,933,564
Ensembl chr13:136,834,115...136,933,549

G

hematopoietic cell-specific Lyn substrate 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,852,387...138,883,088
Ensembl chr13:138,855,144...138,889,281

G

heart development protein with EGF like domains 1

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

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

NCBI chr13:135,268,566...135,358,673
Ensembl chr13:135,298,377...135,358,670

G

homogentisate 1,2-dioxygenase

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:139,660,315...139,710,402
Ensembl chr13:139,660,343...139,710,404

G

5-hydroxymethylcytosine binding, ES cell specific

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:71,732,311...71,752,296
Ensembl chr13:71,732,277...71,753,486

G

HSPB1 associated protein 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:137,739,144...137,805,990
Ensembl chr13:137,740,396...137,809,527

G

intraflagellar transport 122

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:68,828,710...68,902,062
Ensembl chr13:68,828,719...68,902,060

G

interleukin 20 receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:77,946,356...77,986,158
Ensembl chr13:77,952,336...77,986,155

G

immunoglobulin like domain containing receptor 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189

G

IQ motif containing B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,689,544...138,741,228
Ensembl chr13:138,681,740...138,741,367

G

integrin subunit beta 5

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

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

NCBI chr13:135,468,111...135,587,483
Ensembl chr13:135,467,798...135,587,473

G

kalirin RhoGEF kinase

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

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

NCBI chr13:135,653,795...136,277,072

G

kelch repeat and BTB domain containing 12

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

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

NCBI chr13:72,299,096...72,365,575
Ensembl chr13:72,299,103...72,365,511

G

KLF transcription factor 15

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

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

NCBI chr 7:53,877,813...53,890,558
Ensembl chr 7:53,877,818...53,889,144

G

karyopherin subunit alpha 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,045,083...138,100,830
Ensembl chr13:138,018,407...138,103,838

G

kyphoscoliosis peptidase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:75,726,031...75,774,981
Ensembl chr13:75,726,041...75,774,986

G

pre-mRNA-splicing factor ISY1 homolog

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:71,601,737...71,622,835
Ensembl chr13:71,599,237...71,622,840

G

stefin A8

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,216,027...138,226,397
Ensembl chr13:138,181,723...138,236,860

G

methyl-CpG binding domain 4, DNA glycosylase

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:68,816,677...68,828,559
Ensembl chr13:68,816,679...68,828,580

G

minichromosome maintenance complex component 2

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

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

NCBI chr13:72,630,378...72,651,270
Ensembl chr13:72,630,380...72,657,786

G

monoglyceride lipase

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

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

NCBI chr13:72,480,395...72,568,964
Ensembl chr13:72,480,174...72,568,961

G

mitochondrial matrix import factor 23

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,152,426...138,178,458
Ensembl chr13:138,152,491...138,178,444

G

mitochondrial ribosomal protein L3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:984,985...1,024,185
Ensembl chr13:984,910...1,024,507

G

MSL complex subunit 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:77,147,823...77,181,410
Ensembl chr13:77,146,318...77,180,745

G

mucin 13, cell surface associated

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

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

NCBI chr13:135,416,709...135,446,337
Ensembl chr13:135,412,425...135,442,691

G

myosin light chain kinase

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

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

NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668

G

NCK adaptor protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:77,863,655...77,940,944
Ensembl chr13:77,863,701...77,945,468

G

NADH:ubiquinone oxidoreductase subunit B4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:139,724,145...139,730,492
Ensembl chr13:139,724,148...139,730,493

G

NIMA related kinase 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:1,145,225...1,435,690
Ensembl chr13:1,145,284...1,435,652

G

nephrocystin 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:73,843,770...73,901,020
Ensembl chr13:73,858,427...73,900,967

G

nudix hydrolase 16

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:1,125,180...1,128,036
Ensembl chr13:1,125,183...1,128,041

G

oxysterol binding protein like 11

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:134,718,351...134,807,152
Ensembl chr13:134,718,450...134,807,146

G

poly(ADP-ribose) polymerase family member 14

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:137,809,499...137,865,383
Ensembl chr13:137,809,510...137,865,106

G

poly(ADP-ribose) polymerase family member 15

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:137,882,179...137,936,389

G

poly(ADP-ribose) polymerase family member 9

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:137,960,987...138,000,862
Ensembl chr13:137,966,562...138,000,846

G

propionyl-CoA carboxylase subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,316,568

G

protein disulfide isomerase family A member 5

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:137,300,086...137,398,465
Ensembl chr13:137,296,883...137,398,628

G

phosphoinositide-3-kinase regulatory subunit 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr13:1,730,988...1,815,555
Ensembl chr13:1,731,023...1,815,556

G

plexin A1

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

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

NCBI chr13:73,054,434...73,098,786
Ensembl chr13:73,054,443...73,094,623

G

plexin D1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:68,946,658...68,996,625
Ensembl chr13:68,946,665...68,996,618

G

podocalyxin like 2

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

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

NCBI chr13:72,579,310...72,630,179
Ensembl chr13:72,579,311...72,622,950

G

DNA polymerase theta

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,962,634...139,108,499
Ensembl chr13:138,978,609...139,108,500

G

protein phosphatase 2 regulatory subunit B''alpha

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:76,945,318...77,148,521
Ensembl chr13:76,945,395...77,147,072

G

PRR23 family member E

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 chr13:72,876,782...72,879,304

G

RAB43, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:71,564,250...71,596,318
Ensembl chr13:71,562,350...71,596,249

G

RAB6B, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:75,012,267...75,075,324
Ensembl chr13:75,012,268...75,075,239

G

RAB7A, member RAS oncogene family

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

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

NCBI chr13:71,777,422...71,886,758
Ensembl chr13:71,777,424...71,852,694

G

RAB, member of RAS oncogene family like 3

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:139,609,164...139,653,951
Ensembl chr13:139,603,454...139,652,431

G

rhodopsin

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:68,908,578...68,913,651
Ensembl chr13:68,908,578...68,913,651

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 chr13:136,395,628...136,428,170

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 chr13:71,892,600...71,908,772
Ensembl chr13:71,892,002...71,908,932

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 chr13:72,196,219...72,246,514
Ensembl chr13:72,200,511...72,248,582

G

receptor like tyrosine kinase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:75,285,482...75,390,314
Ensembl chr13:75,282,428...75,390,525

G

SEC22 homolog A, vesicle trafficking protein

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:137,175,790...137,250,698
Ensembl chr13:137,170,961...137,250,550

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 chr13:72,254,462...72,276,484
Ensembl chr13:72,254,464...72,269,914

G

semaphorin 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:137,443,982...137,586,962
Ensembl chr13:137,455,346...137,590,831

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 chr13:135,105,723...135,249,124
Ensembl chr13:135,105,896...135,249,120

G

solute carrier family 15 member 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,595,942...138,634,473
Ensembl chr13:138,595,973...138,632,675

G

solute carrier family 35 member G2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:77,825,191...77,858,537
Ensembl chr13:77,825,178...77,861,774

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 7:53,672,131...53,741,033
Ensembl chr 7:53,672,130...53,748,727

G

solute carrier family 49 member 4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:137,633,471...137,739,114
Ensembl chr13:137,641,425...137,739,098

G

solute carrier organic anion transporter family member 2A1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:75,108,540...75,189,660
Ensembl chr13:75,106,607...75,190,022

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 chr13:134,824,028...134,903,765
Ensembl chr13:134,824,043...134,905,359

G

SRP receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:74,976,030...75,010,200
Ensembl chr13:74,975,677...75,010,212

G

STAG1 cohesin complex component

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:77,321,872...77,863,533
Ensembl chr13:77,321,872...77,863,491

G

syntaxin binding protein 5L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:139,116,931...139,491,227
Ensembl chr13:139,123,209...139,445,470

G

transferrin

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763

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 chr13:69,039,173...69,223,806
Ensembl chr13:69,036,428...69,290,098

G

transmembrane protein 108

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

PMID:22147895 PMID:25741868

NCBI chr13:74,524,122...74,556,327
Ensembl chr13:74,180,198...74,555,928

G

DNA topoisomerase II binding protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:74,768,251...74,846,377
Ensembl chr13:74,768,257...74,846,340

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 chr13:72,661,580...72,666,995
Ensembl chr13:72,655,980...72,666,986

G

thyrotropin releasing hormone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr13:69,362,892...69,366,183
Ensembl chr13:69,364,093...69,365,493

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 chr13:73,276,249...73,336,782
Ensembl chr13:73,275,911...73,340,372

G

ubiquitin like modifier activating enzyme 5

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr13:73,831,485...73,859,781
Ensembl chr13:73,822,920...73,868,423

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 chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,603

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 7:53,592,763...53,634,214
Ensembl chr 7:53,590,776...53,637,713

G

WD repeat domain 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr13:138,109,758...138,113,638
Ensembl chr13:138,109,848...138,113,646

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 chr13:134,968,774...135,093,828
Ensembl chr13:134,969,729...135,089,151

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 7:53,640,335...53,672,580
Ensembl chr 7:53,640,266...53,672,579

Refractory Anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 5

NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215

G

homeostatic iron regulator

no_association

associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)
associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)

NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000

G

transcobalamin 2

protein:increased expression::

NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,502,715...47,515,965

G

telomerase reverse transcriptase

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

Y-box binding protein 1

NCBI chr 6:168,716,782...168,736,475
Ensembl chr 6:168,716,772...168,736,604

Refractory Anemia with Excess of Blasts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 5

NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215

G

complement C3

disease_progression

NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228

G

complement factor B

disease_progression

NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,034,332...24,041,179

G

telomerase reverse transcriptase

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

tet methylcytosine dioxygenase 2

disease_progression

NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299

sideroblastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

CTD Direct Evidence: marker/mechanism

PMID:16892088 PMID:18398482 PMID:18637800

NCBI chr X:60,186,559...60,313,098
Ensembl chr X:60,186,814...60,313,064

G

aminolevulinate dehydratase

protein:decreased activity:kidney, liver, spleen

NCBI chr 1:254,015,426...254,027,584
Ensembl chr 1:254,011,833...254,027,537

G

5'-aminolevulinate synthase 2

susceptibility

DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism

PMID:7949148 PMID:16716198 PMID:16892088

NCBI chr X:47,871,519...47,896,041
Ensembl chr X:47,871,523...47,896,000

G

calreticulin

DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)

NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,409,035...59,411,356
Ensembl chr 2:59,408,904...59,411,358

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:116,787,346...116,797,477
Ensembl chr 7:116,787,432...116,800,554

G

heat shock protein family A (Hsp70) member 9

CTD Direct Evidence: marker/mechanism

NCBI chr 2:140,515,239...140,532,164
Ensembl chr 2:140,515,253...140,531,857

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia

PMID:9389715 PMID:32906214

NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055

G

pseudouridine synthase 1

ClinVar Annotator: match by term: Sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr14:23,400,575...23,418,470
Ensembl chr14:23,400,584...23,418,132

G

solute carrier family 25 member 38

CTD Direct Evidence: marker/mechanism

NCBI chr13:24,030,571...24,043,866
Ensembl chr13:24,030,653...24,044,782

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:16910769 PMID:21326867

NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560

G

transferrin receptor

mRNA,protein:increased expression:erythroblast:

NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276

sideroblastic anemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5'-aminolevulinate synthase 2

onset

ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)

OMIM
ClinVar
RGD

PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More...

RGD:11035241 RGD:11035243

NCBI chr X:47,871,519...47,896,041
Ensembl chr X:47,871,523...47,896,000

G

apurinic/apyrimidinic endodeoxyribonuclease 2

ClinVar Annotator: match by term: Anemia, sideroblastic, 1

NCBI chr X:47,862,682...47,870,579
Ensembl chr X:47,862,667...47,871,184

G

PAGE family member 2B

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

PMID:12663458 PMID:18823803 PMID:23263862 PMID:23315997 PMID:23935018 More...

NCBI chr X:47,916,076...47,919,904
Ensembl chr X:47,916,069...47,919,898

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 chr13:24,030,571...24,043,866
Ensembl chr13:24,030,653...24,044,782

sideroblastic anemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HscB mitochondrial iron-sulfur cluster cochaperone

ClinVar Annotator: match by term: Anemia, sideroblastic, 5

PMID:25741868 PMID:32634119

NCBI chr14:45,967,460...45,980,632
Ensembl chr14:45,967,502...45,980,622

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 chr13:59,647,835...59,736,054
Ensembl chr13:59,710,995...59,735,400

splenic marginal zone lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79b molecule

protein:decreased expression:blood, B cell (human)

NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,438

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 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625

Thrombocythemia 3

term browser

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Object Name

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Evidence

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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 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479

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 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148

Thrombocytopenia, Anemia, and Myelofibrosis

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Object Name

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Evidence

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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 chr 7:23,834,650...23,836,784
Ensembl chr 7:23,834,930...23,838,593

thrombocytosis

term browser

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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G

calreticulin

human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human)
CTD Direct Evidence: marker/mechanism

NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132

G

carboxypeptidase B2

NCBI chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,241

G

erythropoietin receptor

NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism
essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F
DNA:point mutations: :p.S755R, p.R938Q (human)
associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F

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

RGD:10449375 RGD:15039391 RGD:1627655

NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148

G

protocadherin alpha-7

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr 2:142,504,123...142,511,445

G

interleukin-1 beta-like

G

MPL proto-oncogene, thrombopoietin receptor

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

PMID:15813844 PMID:16484586 PMID:19036112

NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606

G

thrombopoietin

susceptibility

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

PMID:9694695 PMID:15813844 PMID:33122006

NCBI chr13:122,259,654...122,267,860
Ensembl chr13:122,260,215...122,267,860

Thrombocytosis, Benign Familial Microcytic

term browser

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Evidence

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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 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625

transient myeloproliferative syndrome

term browser

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PubMed Reference(s)

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G

GATA binding protein 1

ClinVar Annotator: match by term: TRANSIENT ABNORMAL MYELOPOIESIS | ClinVar Annotator: match by term: Transient myeloproliferative syndrome

PMID:25741868 PMID:27993330 PMID:28492532

NCBI chr X:42,898,431...42,905,939
Ensembl chr X:42,898,442...42,905,976

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 chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

X-linked sideroblastic anemia with ataxia

term browser

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Evidence

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PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

susceptibility

ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
DNA:missense mutation: :p.I400M (human)

OMIM
ClinVar
RGD

PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More...

NCBI chr X:60,186,559...60,313,098
Ensembl chr X:60,186,814...60,313,064

G

5'-aminolevulinate synthase 2

ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia

NCBI chr X:47,871,519...47,896,041
Ensembl chr X:47,871,523...47,896,000

G

PAGE family member 2B

ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia

NCBI chr X:47,916,076...47,919,904
Ensembl chr X:47,916,069...47,919,898

Term paths to the root

Path 1
Term	Annotations
disease	15437
disease of anatomical entity	15106
hematopoietic system disease	3630
bone marrow disease	780
Bone Marrow Neoplasms	464
bone marrow cancer +	464
Path 2
Term	Annotations
disease	15437
disease of anatomical entity	15106
Hemic and Lymphatic Diseases	4088
hematopoietic system disease	3630
Hematologic Neoplasms	1016
Bone Marrow Neoplasms	464
bone marrow cancer +	464

paths to the root