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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Genes (461)

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 chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

tumor protein p53

disease_progression

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

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 chr23:79,522,265...79,528,628
Ensembl chr23:79,522,479...79,527,570

G

fms related receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:bone marrow cell:

NCBI chr12:5,145,194...5,158,659
Ensembl chr12:5,145,844...5,150,274

G

homeobox B9

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,027,926...69,047,020
Ensembl chr16:69,035,701...69,039,069

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:109,819,748...109,912,763
Ensembl chr 1:109,853,758...109,908,113

G

nucleophosmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:73,555,020...73,575,910
Ensembl chr23:73,555,260...73,575,925

G

nucleoporin 98 and 96 precursor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:62,924,514...63,050,060
Ensembl chr 1:62,925,050...63,050,111

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

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:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164

AMED syndrome

term browser

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Object Name

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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 7:47,190,031...47,211,670
Ensembl chr 7:47,190,294...47,211,651

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 chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374

atypical chronic myeloid leukemia, BCR-ABL1 negative

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

ASXL transcriptional regulator 1

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

NCBI chr 2:36,735,449...36,810,447
Ensembl chr 2:36,735,830...36,812,387

G

fibroblast growth factor receptor 1

NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508

G

major facilitator superfamily domain containing 11

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

NCBI chr16:44,907,869...44,945,094
Ensembl chr16:44,908,247...44,944,321

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:35,819,559...36,195,895

G

serine and arginine rich splicing factor 2

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

NCBI chr16:44,945,193...44,948,496
Ensembl chr16:44,945,200...44,946,438

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 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

autosomal dominant sideroblastic anemia 4

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heat shock protein family A (Hsp70) member 9

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

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

NCBI chr23:41,230,675...41,251,177
Ensembl chr23:41,231,364...41,251,150

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 chr24:73,387,941...73,398,208
Ensembl chr24:73,387,641...73,398,233

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 chr15:39,051...53,170
Ensembl chr15:38,881...52,775

autosomal recessive pyridoxine-refractory sideroblastic anemia 3

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin 5

ClinVar Annotator: match by term: Sideroblastic anemia 3

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

NCBI chr24:73,387,941...73,398,208
Ensembl chr24:73,387,641...73,398,233

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 chr19:33,102,803...33,105,958
Ensembl chr19:33,100,117...33,105,926

Blast Crisis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation induced cytidine deaminase

CTD Direct Evidence: marker/mechanism

NCBI chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr19:2,569,841...2,703,703
Ensembl chr19:2,566,190...2,702,920

G

estrogen receptor 2

NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486

G

heme oxygenase 1

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

transcobalamin 2

protein:increased expression::

NCBI chr19:13,489,849...13,511,360
Ensembl chr19:13,490,645...13,511,810

Bone Marrow Failure Syndrome 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal recognition particle 72

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

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

NCBI chr 7:12,127,817...12,162,992
Ensembl chr 7:12,126,607...12,162,951

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 chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734

G

BCR activator of RhoGEF and GTPase

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

PMID:25741868 PMID:28492532

NCBI chr19:2,569,841...2,703,703
Ensembl chr19:2,566,190...2,702,920

G

IKAROS family zinc finger 1

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

NCBI chr21:8,398,902...8,500,431
Ensembl chr21:8,402,719...8,484,723

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 chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

NRAS proto-oncogene, GTPase

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

NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

splicing factor 3b subunit 1

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

NCBI chr10:82,901,908...82,952,094
Ensembl chr10:82,899,079...82,952,071

chronic myeloid leukemia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

treatment
susceptibility

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

PMID:24581936 PMID:26250462

RGD:11081178 RGD:11081180

NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274

G

ATP binding cassette subfamily C member 2

treatment

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

NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265

G

ATP binding cassette subfamily G member 2 (JR blood group)

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 7:36,458,110...36,599,753

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

treatment
susceptibility

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 chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734

G

angiotensinogen

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

AKT serine/threonine kinase 1

protein:increased phosphorylation:blood

NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: therapeutic

PMID:19503090 PMID:19823023

NCBI chr 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331

G

BCL2 like 1

NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470

G

BCR activator of RhoGEF and GTPase

susceptibility
disease_progression
treatment

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

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

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

NCBI chr19:2,569,841...2,703,703
Ensembl chr19:2,566,190...2,702,920

G

baculoviral IAP repeat containing 5

CTD Direct Evidence: therapeutic

NCBI chr16:70,226,824...70,237,000

G

basic helix-loop-helix ARNT like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:51,430,670...51,540,344
Ensembl chr 1:51,431,180...51,462,674

G

carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chr12:44,921,530...44,929,504
Ensembl chr12:44,921,665...44,928,831

G

caspase 6

treatment

human cells in mouse model

NCBI chr 7:57,592,632...57,616,094
Ensembl chr 7:57,593,342...57,607,489

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669

G

CD40 molecule

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

NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566

G

cyclin dependent kinase inhibitor 1B

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

NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531

G

cysteine and histidine rich domain containing 1

OMIM:608232

NCBI chr 1:81,326,464...81,350,640
Ensembl chr 1:81,328,422...81,350,214

G

CRK like proto-oncogene, adaptor protein

protein:increased phosphorylation:blood

G

cryptochrome circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:102,200,822...102,306,165
Ensembl chr11:102,204,224...102,306,182

G

cryptochrome circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:19,459,734...19,498,807
Ensembl chr 1:19,472,231...19,498,790

G

cytochrome P450 family 1 subfamily A member 1

treatment

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

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

cytochrome P450 family 3 subfamily A member 5

treatment
susceptibility

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

PMID:19584153 PMID:21039054

RGD:11353798 RGD:11353810

NCBI chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507

G

DNA methyltransferase 1

disease_progression

NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607

G

DNA methyltransferase 3 alpha

disease_progression

NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819

G

DNA methyltransferase 3 beta

disease_progression

NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570

G

E2F transcription factor 1

mRNA:increased expression:blood

NCBI chr 2:37,968,541...37,980,461
Ensembl chr 2:37,968,556...37,980,326

G

ERCC excision repair 2, TFIIH core complex helicase subunit

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

PMID:24955348 PMID:25311495

RGD:11060463 RGD:11252188

NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

Fas ligand

susceptibility

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

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

Fc fragment of IgG receptor IIa

NCBI chr20:2,480,710...2,512,429

G

fibroblast growth factor receptor 3

mRNA:increased expression:peripheral blood (human)

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

GRB2 associated binding protein 2

disease_progression

protein:increased expression:bone marrow

NCBI chr 1:69,422,517...69,624,411
Ensembl chr 1:69,424,100...69,624,279

G

glutathione peroxidase 1

no_association

DNA:polymorphism: :p.P198L (human)

NCBI chr22:10,754,976...10,756,617

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:6,676,897...6,679,936

G

hes family bHLH transcription factor 1

rat gene in a mouse model

NCBI chr15:88,220,093...88,222,563
Ensembl chr15:88,220,083...88,223,243

G

heme oxygenase 1

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,920,705...12,925,888
Ensembl chr12:12,920,710...12,927,431

G

interferon alpha 2

CTD Direct Evidence: therapeutic

PMID:10520005 PMID:10715301 PMID:12620292

NCBI chr12:58,468,018...58,469,825

G

interleukin 10

treatment

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 1 beta

severity

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 1 receptor antagonist

severity

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

hyaluronan mediated motility receptor

CTD Direct Evidence: marker/mechanism

NCBI chr23:65,732,343...65,765,511
Ensembl chr23:65,732,553...65,765,511

G

mitogen-activated protein kinase 14

CTD Direct Evidence: therapeutic

NCBI chr17:36,012,164...36,095,542
Ensembl chr17:36,014,454...36,095,138

G

MDM2 proto-oncogene

onset

DNA:SNP:promoter:rs2279744(human)

NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890

G

major histocompatibility complex, class II, DQ alpha 1

onset

DNA:polymorphism, haplotype

PMID:17387388 PMID:17893434

RGD:11041777 RGD:11041781

NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871

G

methylenetetrahydrofolate reductase

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

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

nicastrin

OMIM:608232

NCBI chr20:3,590,044...3,606,205
Ensembl chr20:3,590,725...3,606,066

G

NAD(P)H quinone dehydrogenase 1

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

NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:serum (human)

NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999

G

period circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:7,520,122...7,536,176
Ensembl chr16:7,520,006...7,531,940

G

period circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:124,270,917...124,316,031
Ensembl chr10:124,269,543...124,315,904

G

period circadian regulator 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:123,912,773...123,970,440
Ensembl chr20:123,912,208...123,970,549

G

proteinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:590,193...598,829

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

NCBI chr10:82,901,908...82,952,094
Ensembl chr10:82,899,079...82,952,071

G

SH2B adaptor protein 3

OMIM:608232

NCBI chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619

G

signal-induced proliferation-associated 1

OMIM:608232

NCBI chr 1:8,588,221...8,601,310
Ensembl chr 1:8,586,685...8,598,455

G

SMAD family member 4

mRNA:decreased expression:blood

NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478

G

serine and arginine rich splicing factor 1

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

NCBI chr16:35,392,573...35,396,815
Ensembl chr16:35,392,873...35,394,982

G

signal transducer and activator of transcription 5A

disease_progression
treatment

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

PMID:16522816 PMID:31952546

RGD:151667903 RGD:151667904

NCBI chr16:63,959,265...63,986,627
Ensembl chr16:63,960,515...63,985,026

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:15068898 PMID:17157168

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

transforming growth factor beta 1

protein:increased expression:serum

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

ubiquitin specific peptidase 15

mRNA, protein:decreased expression:PBMC (human)

NCBI chr11:58,154,905...58,300,431
Ensembl chr11:58,154,919...58,300,522

G

vascular endothelial growth factor A

susceptibility

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

NCBI chr17:28,377,959...28,394,508

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:32,750,300...32,801,832

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094

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 chr 2:36,735,449...36,810,447
Ensembl chr 2:36,735,830...36,812,387

G

colony stimulating factor 3 receptor

disease_progression

DNA:mutations:multiples:

NCBI chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

DNA:mutations:multiple (human)

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

lysine demethylase 6A

NCBI chr X:42,053,272...42,291,013
Ensembl chr X:42,053,336...42,290,526

G

NRAS proto-oncogene, GTPase

onset

NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

tet methylcytosine dioxygenase 2

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

NCBI chr 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

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 chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618

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 chr14:80,371,154...80,399,193
Ensembl chr14:80,371,096...80,398,914

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:55,161,788...55,177,383
Ensembl chr 5:55,161,916...55,180,896

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr22:56,081,897...56,097,164
Ensembl chr22:56,082,103...56,097,105

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 chr24:74,163,750...74,246,131
Ensembl chr24:74,163,442...74,246,116

G

bradykinin receptor B1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr24:74,136,464...74,146,668
Ensembl chr24:74,145,531...74,146,592

G

bradykinin receptor B2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr24:74,084,907...74,125,604
Ensembl chr24:74,118,210...74,122,909

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 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669

G

CD40 ligand

protein:increased expression:serum (human)

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

G

chromosome unknown C14orf132 homolog

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr24:73,916,853...73,967,291

G

elastase, neutrophil expressed

protein:increased expression:plasma:

NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:70,089,394...70,157,423

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr24:74,246,221...74,270,608
Ensembl chr24:74,246,255...74,271,765

G

interferon alpha 2

CTD Direct Evidence: therapeutic

NCBI chr12:58,468,018...58,469,825

G

Janus kinase 2

severity

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

RGD
MouseDO
CTD

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

NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710

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 chr20:89,457,549...89,474,756
Ensembl chr20:89,459,493...89,474,352

G

MYB proto-oncogene, transcription factor

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

NCBI chr13:38,203,923...38,242,148
Ensembl chr13:38,203,731...38,241,864

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr28:21,044,549...21,068,411
Ensembl chr28:21,047,219...21,069,827

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395

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 chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr24:73,556,188...73,570,376
Ensembl chr24:73,566,270...73,570,348

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

thrombopoietin

ClinVar Annotator: match by term: Thrombocythemia 1

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

NCBI chr15:5,040,684...5,048,387

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862

G

von Willebrand factor

NCBI chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260

familial chronic myelocytic leukemia-like syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon regulatory factor 8

OMIM:600080

NCBI chr 5:71,301,878...71,325,622
Ensembl chr 5:71,302,233...71,325,613

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:45,912,638...45,920,415
Ensembl chr X:45,917,231...45,920,268

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Familial myelofibrosis

NCBI chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619

G

vacuolar protein sorting 45 homolog

CTD Direct Evidence: marker/mechanism

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 chr21:108,584,458...108,779,357
Ensembl chr21:108,628,570...108,779,163

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 chr22:6,861,105...7,021,325
Ensembl chr22:6,861,006...7,020,009

Hypochromic Microcytic Anemia with Iron Overload 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 11 member 2

ClinVar Annotator: match by term: SLC11A2-related condition

PMID:25741868 PMID:28492532 PMID:35457224

NCBI chr11:47,190,138...47,238,543
Ensembl chr11:47,197,168...47,235,130

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 chr13:78,691,588...78,812,333
Ensembl chr13:78,691,816...78,812,834

G

Rho GTPase activating protein 26

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

NCBI chr23:45,399,159...45,860,331
Ensembl chr23:45,399,259...45,849,040

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 chr 2:36,735,449...36,810,447
Ensembl chr 2:36,735,830...36,812,387

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 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481

G

colony stimulating factor 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:9389708 PMID:22315502

NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

fms related receptor tyrosine kinase 3

OMIM:607785

NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:52,549,112...52,562,911
Ensembl chr22:52,555,738...52,562,909

G

Janus kinase 3

disease_progression

CTD Direct Evidence: marker/mechanism

NCBI chr 6:16,301,760...16,323,343
Ensembl chr 6:16,300,525...16,322,859

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

neurofibromin 1

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307

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 chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

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 chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

Rac family small GTPase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:19,930,799...19,949,381
Ensembl chr19:19,929,892...19,949,376

G

RAS related

CTD Direct Evidence: marker/mechanism

NCBI chr 6:42,810,411...42,815,504
Ensembl chr 6:42,810,339...42,815,479

G

RAS related 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:50,527,669...50,607,208
Ensembl chr 1:50,527,699...50,607,871

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:23832011 PMID:26457647

NCBI chr18:35,819,559...36,195,895

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,247,231...14,279,466
Ensembl chr X:14,247,287...14,279,448

Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9 like

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

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

NCBI chr21:55,865,869...55,883,593
Ensembl chr21:55,878,526...55,883,280

Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9

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

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

NCBI chr21:55,895,799...55,913,845
Ensembl chr21:55,907,249...55,912,015

multiple myeloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 2 (JR blood group)

treatment

PMID:16917002 PMID:26314844

RGD:11081075 RGD:11081144

NCBI chr 7:36,458,110...36,599,753

G

albumin

disease_progression

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr16:17,221,643...17,249,038
Ensembl chr16:17,222,378...17,249,117

G

apolipoprotein E

treatment

NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr24:35,491,391...35,566,073

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:7,730,060...7,753,167
Ensembl chr 2:7,734,128...7,752,395

G

beta-2-microglobulin

ClinVar Annotator: match by term: Myelomatosis

NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:100,539,827...100,627,718
Ensembl chr10:100,539,527...100,627,675

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

BCL2 like 1

CTD Direct Evidence: marker/mechanism

PMID:12429644 PMID:14656874

NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470

G

BCL2 like 10

protein:increased expression:bone marrow :

NCBI chr26:31,274,015...31,277,377
Ensembl chr26:31,274,119...31,276,937

G

BCL6 corepressor like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:105,238,616...105,314,326
Ensembl chr X:105,240,043...105,314,553

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:124,570,958...124,586,002
Ensembl chr 9:124,568,695...124,585,980

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 chr21:109,495,525...109,690,261

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:87,553,779...87,556,535
Ensembl chr11:87,554,731...87,556,542

G

Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481

G

chromobox 7

susceptibility

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

NCBI chr19:21,776,618...21,798,525
Ensembl chr19:21,775,931...21,798,309

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

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 chr20:47,783,270...47,786,216
Ensembl chr20:47,783,935...47,785,997

G

cyclin D1

susceptibility

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

ClinVar
OMIM
RGD

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

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

cyclin D2

NCBI chr11:4,307,419...4,339,003
Ensembl chr11:4,307,401...4,333,661

G

cyclin D3

NCBI chr17:30,107,236...30,228,449
Ensembl chr17:30,221,598...30,227,452

G

CD40 molecule

treatment

human cells in a mouse model

NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566

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:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

G

CD46 molecule

protein:increased expression:plasma cell (human)

NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878

G

CD86 molecule

severity

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

PMID:16611307 PMID:22705596

NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366

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 chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861

G

cyclin dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:81,964,164...81,970,891
Ensembl chr20:81,963,562...81,968,450

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566

G

cereblon

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr22:39,248,087...39,277,778
Ensembl chr22:39,248,905...39,277,749

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:36,541,022...36,600,874
Ensembl chr 5:36,541,764...36,595,417

G

cytochrome P450 family 1 subfamily A member 1

susceptibility

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

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

cytochrome P450 family 2 subfamily C member 19

treatment
no_association

DNA:polymorphisms: :

PMID:17666363 PMID:20684753

RGD:11352748 RGD:11352804

NCBI chr 9:87,981,300...88,025,007

G

cytochrome P450 family 2 subfamily D member 6

no_association

DNA:polymorphisms: :

NCBI chr19:24,667,207...24,672,580
Ensembl chr19:24,667,282...24,671,513

G

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

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:51,890,033...51,916,628
Ensembl chr 3:51,888,707...51,916,643

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819

G

desmoglein 2

disease_progression

NCBI chr18:49,174,539...49,227,519
Ensembl chr18:49,174,409...49,227,347

G

eukaryotic translation initiation factor 1A X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:18,589,940...18,606,680
Ensembl chr X:18,588,232...18,606,648

G

endoglin

severity

protein:increased expression:serum:

NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040

G

epoxide hydrolase 1

susceptibility
no_association

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

PMID:16949155 PMID:19736056 PMID:24521996

RGD:11252116 RGD:11252121 RGD:11252122

NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967

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 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073

G

ETS2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:36,452,604...36,460,188
Ensembl chr 6:36,452,577...36,460,122

G

Fas ligand

disease_progression

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112

G

Fc fragment of IgG receptor IIa

disease_progression
susceptibility

DNA:polymorphism: :rs1801274(human)

PMID:17315188 PMID:25850245

RGD:11040778 RGD:11040938

NCBI chr20:2,480,710...2,512,429

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Myelomatosis

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

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

fibrinogen gamma chain

treatment

NCBI chr 7:101,148,457...101,157,245
Ensembl chr 7:101,148,058...101,157,111

G

fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849

G

fms related receptor tyrosine kinase 3 ligand

disease_progression

protein:increased expression:serum:

NCBI chr 6:42,653,820...42,665,017
Ensembl chr 6:42,654,412...42,660,458

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

NCBI chr 5:39,487,304...39,900,238
Ensembl chr 5:39,487,418...39,725,747

G

glutathione peroxidase 1

NCBI chr22:10,754,976...10,756,617

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

NCBI chr23:53,576,950...53,585,321

G

glutathione S-transferase pi 1

disease_progression
no_association
treatment

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

PMID:17512053 PMID:18061666 PMID:23953887

RGD:10755413 RGD:10755419 RGD:11075094

NCBI chr 1:6,676,897...6,679,936

G

H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:46,099,264...46,100,067
Ensembl chr17:46,099,330...46,099,986

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227

G

homeostatic iron regulator

susceptibility

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

NCBI chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649

G

histone cluster 1, H2am

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:44,639,666...44,640,280
Ensembl chr17:44,694,268...44,694,657

G

hexokinase 1

NCBI chr 9:61,917,501...62,029,737
Ensembl chr 9:61,917,440...62,001,843

G

HRas proto-oncogene, GTPase

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

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

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:10,442,530...10,443,804
Ensembl chr28:10,442,398...10,443,855

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

PMID:7686390 PMID:7834632

RGD:11354981 RGD:11520780

NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263

G

interferon alpha 2

CTD Direct Evidence: therapeutic

PMID:3597002 PMID:8833401 PMID:9234591

NCBI chr12:58,468,018...58,469,825

G

insulin like growth factor 2 receptor

protein:increased expression:serum,urine:

NCBI chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116

G

interleukin 10

disease_progression

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

PMID:11022130 PMID:11307152

RGD:11041888 RGD:11049458

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 1 alpha

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

PMID:1777241 PMID:17926179 PMID:25469832

RGD:11049156 RGD:11051973 RGD:11059513

NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611

G

interleukin 1 beta

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

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 1 receptor antagonist

no_association

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

PMID:10848780 PMID:17926179

RGD:11051973 RGD:11522764

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

interleukin 4 receptor

susceptibility

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

NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:34,701,724...34,724,241
Ensembl chr 4:34,701,531...34,721,361

G

interferon regulatory factor 4

disease_progression
treatment

CTD Direct Evidence: marker/mechanism
DNA:translocation

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

RGD:11526161 RGD:11530019 RGD:11530055

NCBI chr17:71,739,920...71,758,811

G

interferon regulatory factor 8

DNA:hypermethylation

NCBI chr 5:71,301,878...71,325,622
Ensembl chr 5:71,302,233...71,325,613

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:49,306,472...49,356,151
Ensembl chr X:49,321,173...49,356,100

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423

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 chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:21,901,153...21,966,227
Ensembl chr13:21,919,280...21,967,117

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 chr 3:86,576,200...86,587,097
Ensembl chr 3:86,577,304...86,580,039

G

glutathione S-transferase Mu 1

severity
no_association

PMID:15136237 PMID:17653713

RGD:10450826 RGD:10450846

NCBI chr20:23,854,969...23,861,634

G

leucine rich repeat containing 56

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

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

NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633

G

MAF bZIP transcription factor

OMIM:254500

NCBI chr 5:65,064,715...65,078,972

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chr 5:2,971,323...2,991,501

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 7:66,169,080...66,195,324
Ensembl chr 7:66,168,855...66,194,121

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr29:21,967,309...21,981,251
Ensembl chr29:21,963,982...21,981,579

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr26:41,215,424...41,381,828
Ensembl chr26:41,218,082...41,311,526

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr22:11,293,637...11,310,239
Ensembl chr22:11,293,263...11,309,980

G

methylenetetrahydrofolate reductase

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

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

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

NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

NCBI chr 4:7,461,521...7,493,032
Ensembl chr 4:7,461,526...7,493,840

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962

G

nuclear receptor corepressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr11:119,675,363...119,917,059
Ensembl chr11:119,676,345...119,917,000

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307

G

NFKB inhibitor alpha

DNA:polymorphism

PMID:12377412 PMID:16540234

RGD:2298895 RGD:2298898

NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056

G

non-POU domain containing octamer binding

exacerbates

mRNA:increased expression: (human)

NCBI chr X:61,082,923...61,110,895

G

notch receptor 2

protein:increased expression:bone marrow (human)

NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784

G

NADPH oxidase 1

protein:increased expression:serum

NCBI chr X:89,182,636...89,210,176
Ensembl chr X:89,183,264...89,209,298

G

NAD(P)H quinone dehydrogenase 1

no_association

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

PMID:16949155 PMID:18061666 PMID:18156703

RGD:10755419 RGD:10769348

NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599

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 chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:101,282,483...101,362,618
Ensembl chr11:101,282,347...101,360,602

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 chr25:3,350,798...3,405,040

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:16,620,673...16,637,511
Ensembl chr 6:16,621,606...16,636,937

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

NCBI chr26:9,441,998...9,494,949
Ensembl chr26:9,451,112...9,494,931

G

RNA polymerase I subunit G

sexual_dimorphism

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

NCBI chr 6:38,853,681...38,857,241
Ensembl chr 6:38,853,874...38,859,288

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 chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr29:23,288,458...23,297,746
Ensembl chr29:23,288,835...23,297,518

G

psoriasis susceptibility 1 candidate 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,336,262...41,339,413
Ensembl chr17:41,337,779...41,338,992

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr11:27,682,300...27,694,808
Ensembl chr11:27,682,338...27,694,898

G

RAN binding protein 2

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

NCBI chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735

G

RB binding protein 8, endonuclease

exacerbates

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

NCBI chr18:57,501,070...57,617,301
Ensembl chr18:57,501,271...57,597,670

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

NCBI chr15:51,011,664...51,033,963

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:138,725,494...138,732,286
Ensembl chr 8:138,725,633...138,732,096

G

roundabout guidance receptor 1

ameliorates

NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219

G

RUNX family transcription factor 1

mRNA:splice variant

NCBI chr 2:78,819,189...79,082,491
Ensembl chr 2:78,819,194...78,924,495

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:3,704,129...3,814,707
Ensembl chr12:3,699,923...3,814,678

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:39,152,289...39,306,190
Ensembl chr13:39,300,567...39,306,183

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

secreted protein acidic and cysteine rich

disease_progression

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

PMID:18172295 PMID:23699600

NCBI chr23:54,224,003...54,248,869
Ensembl chr23:54,222,838...54,238,006

G

secreted phosphoprotein 1

NCBI chr 7:36,337,165...36,344,927
Ensembl chr 7:36,338,386...36,344,407

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:1,393,147...1,440,515
Ensembl chr 6:1,393,107...1,440,479

G

telomerase reverse transcriptase

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr14:33,170,046...33,293,128
Ensembl chr14:33,176,039...33,293,906

G

transferrin receptor

treatment

NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584

G

transforming growth factor beta 1

disease_progression

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

PMID:22560388 PMID:23699600

RGD:11073605 RGD:11073614

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

tumor necrosis factor

treatment
no_association

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

PMID:12200397 PMID:12815949

RGD:10449450 RGD:10449453

G

TNF receptor superfamily member 10a

treatment

NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

NCBI chr16:15,980,927...16,012,572
Ensembl chr16:15,981,392...15,993,593

G

TNF receptor superfamily member 17

NCBI chr 5:11,435,306...11,438,573
Ensembl chr 5:11,435,842...11,438,351

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466

G

tumor protein p53

treatment
disease_progression

DNA:deletion: :
protein:increased expression:nucleus:
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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr22:39,220,163...39,247,110
Ensembl chr22:39,222,663...39,246,112

G

thymidylate synthetase

no_association
treatment

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

PMID:17512053 PMID:17655928

RGD:11075094 RGD:11075095

NCBI chr18:60,030,640...60,043,297
Ensembl chr18:60,030,658...60,041,856

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr22:2,731,174...3,398,885
Ensembl chr22:2,731,308...3,398,912

G

vascular endothelial growth factor A

susceptibility

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

NCBI chr17:28,377,959...28,394,508

G

xanthine dehydrogenase

protein:increased expression:serum

NCBI chr14:76,084,693...76,162,840
Ensembl chr14:76,085,368...76,163,936

G

exportin 5

severity

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

NCBI chr17:28,585,317...28,637,045
Ensembl chr17:28,585,536...28,635,519

G

X-ray repair cross complementing 3

disease_progression

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

NCBI chr24:81,627,911...81,641,598
Ensembl chr24:81,630,099...81,641,218

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

NCBI chr 4:77,182,569...77,468,786
Ensembl chr 4:77,182,793...77,468,775

G

X-ray repair cross complementing 5

susceptibility

DNA:SNP:3'-UTR (human)

NCBI chr10:101,952,909...102,051,059
Ensembl chr10:101,953,067...102,049,964

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:93,479,478...93,605,340
Ensembl chr 1:93,479,135...93,606,808

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:985,373...1,010,533
Ensembl chr 2:985,425...1,012,091

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr24:78,199,172...78,243,081
Ensembl chr24:78,199,039...78,237,165

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 chr23:34,787,097...34,846,387
Ensembl chr23:34,787,432...34,829,042

G

actin related protein 2/3 complex subunit 1B

treatment

NCBI chr28:13,764,637...13,780,317

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 chr 2:36,735,449...36,810,447
Ensembl chr 2:36,735,830...36,812,387

G

autophagy related 7

OMIM:614286

NCBI chr22:47,187,305...47,571,309
Ensembl chr22:47,325,614...47,571,070

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164

G

BRCA1 associated deubiquitinase 1

OMIM:614286

NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740

G

BCL2 like 10

treatment
susceptibility

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

PMID:21760590 PMID:24047476

RGD:11058140 RGD:14392809

NCBI chr26:31,274,015...31,277,377
Ensembl chr26:31,274,119...31,276,937

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,095,592...22,104,894

G

CD40 molecule

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

NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566

G

cyclin dependent kinase inhibitor 1B

DNA:deletion: :

NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531

G

CASP8 and FADD like apoptosis regulator

CTD Direct Evidence: marker/mechanism

PMID:14562111 PMID:16105982

NCBI chr10:86,768,252...86,819,963
Ensembl chr10:86,782,240...86,816,652

G

CREB binding protein

OMIM:614286

NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

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 chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:41,423,504...41,599,458
Ensembl chr23:41,447,675...41,600,190

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:98,118,948...98,330,435
Ensembl chr12:98,118,603...98,330,471

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 chr23:79,522,265...79,528,628
Ensembl chr23:79,522,479...79,527,570

G

DEAD-box helicase 42

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

NCBI chr16:57,470,095...57,517,056
Ensembl chr16:57,471,015...57,504,239

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:78,687,542...78,695,782
Ensembl chr24:78,687,668...78,695,607

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607

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 chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819

G

DNA methyltransferase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570

G

early growth response 1

OMIM:614286

NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374

G

erythropoietin

CTD Direct Evidence: therapeutic

PMID:12670338 PMID:16076383

NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908

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 chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952

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 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073

G

ETS variant transcription factor 6

DNA:translocation: :
DNA:deletion: :

PMID:9171997 PMID:12203785 PMID:18476590

RGD:10450601 RGD:10450605 RGD:1581019

NCBI chr11:11,567,522...11,812,292
Ensembl chr11:11,567,632...11,811,716

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

PMID:20601954 PMID:21125401 PMID:22869879

RGD:10450880 RGD:10450887

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

Fas ligand

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

PMID:9557605 PMID:15686130

RGD:11049447 RGD:11049448

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

Fc fragment of IgG receptor IIIa

NCBI chr20:2,466,492...2,475,579

G

fms related receptor tyrosine kinase 3

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

NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849

G

GATA binding protein 1

disease_progression
severity

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

RGD
MouseDO
CTD

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

RGD:10450734 RGD:10450752 RGD:10450753

NCBI chr X:45,912,638...45,920,415
Ensembl chr X:45,917,231...45,920,268

G

GATA binding protein 2

severity

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

RGD
OMIM
ClinVar

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

NCBI chr22:52,549,112...52,562,911
Ensembl chr22:52,555,738...52,562,909

G

growth factor independent 1 transcriptional repressor

mRNA:decreased expression:bone marrow:

NCBI chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717

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 chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667

G

glutathione S-transferase pi 1

susceptibility

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

NCBI chr 1:6,676,897...6,679,936

G

core histone macro-H2A.1

OMIM:614286

NCBI chr23:38,113,212...38,178,227
Ensembl chr23:38,113,195...38,168,382

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556

G

homeostatic iron regulator

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

PMID:12624489 PMID:17001480

NCBI chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649

G

isocitrate dehydrogenase (NADP(+)) 1

disease_progression

DNA:mutation: :

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

G

interleukin 1 beta

mRNA:increased expression:bone marrow

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Myelodysplasia

PMID:25741868 PMID:28492532

NCBI chr 9:6,134,961...6,187,731
Ensembl chr 9:6,141,430...6,149,447

G

integrin subunit beta 3

NCBI chr16:59,372,171...59,431,434
Ensembl chr16:59,374,889...59,410,857

G

lysine methyltransferase 2E (inactive)

NCBI chr21:73,930,957...74,030,434
Ensembl chr21:73,930,932...74,029,673

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

leucine rich repeat containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chr25:27,093,242...27,218,694
Ensembl chr25:27,092,717...27,215,943

G

splicing factor U2AF 35 kDa subunit-like protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:86,949,910...86,964,655
Ensembl chr 2:86,950,056...86,964,579

G

glutathione S-transferase Mu 1

susceptibility
treatment

PMID:15595630 PMID:16620556

RGD:10450800 RGD:10450836

NCBI chr20:23,854,969...23,861,634

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelodysplastic syndromes

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

NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657

G

LYL1 basic helix-loop-helix family member

CTD Direct Evidence: marker/mechanism

NCBI chr 6:11,778,634...11,785,474
Ensembl chr 6:11,780,766...11,782,618

G

MDM2 proto-oncogene

no_association

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

NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chr 5:2,971,323...2,991,501

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

NCBI chr 4:7,461,521...7,493,032
Ensembl chr 4:7,461,526...7,493,840

G

MYB proto-oncogene like 2

OMIM:614286

NCBI chr 2:20,097,179...20,148,998
Ensembl chr 2:20,097,108...20,148,926

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

G

nucleophosmin 1

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

PMID:15659725 PMID:20026798 PMID:32581362

NCBI chr23:73,555,020...73,575,910
Ensembl chr23:73,555,260...73,575,925

G

NAD(P)H quinone dehydrogenase 1

no_association

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

NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599

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 chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

phospholipase C beta 1

severity
treatment

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

PMID:16820933 PMID:19805378 PMID:21109771

RGD:11535164 RGD:11535956

NCBI chr 2:29,242,601...29,994,238
Ensembl chr 2:29,242,425...29,496,793

G

prostate transmembrane protein, androgen induced 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:6,403,358...6,465,958
Ensembl chr 2:6,404,515...6,465,982

G

DNA polymerase gamma, catalytic subunit

OMIM:614286

NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068

G

RAP1 GTPase activating protein

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

NCBI chr20:110,967,457...111,040,940
Ensembl chr20:110,987,308...111,040,947

G

RUNX family transcription factor 1

disease_progression

DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple

NCBI chr 2:78,819,189...79,082,491
Ensembl chr 2:78,819,194...78,924,495

G

sterile alpha motif domain containing 9

ClinVar Annotator: match by term: Myelodysplastic syndrome

PMID:28492532 PMID:30046003

NCBI chr21:55,895,799...55,913,845
Ensembl chr21:55,907,249...55,912,015

G

sterile alpha motif domain containing 9 like

OMIM:614286

NCBI chr21:55,865,869...55,883,593
Ensembl chr21:55,878,526...55,883,280

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 chr10:82,901,908...82,952,094
Ensembl chr10:82,899,079...82,952,071

G

solute carrier family 22 member 5

mRNA:decreased expression:PBMCs (human)

NCBI chr23:35,197,909...35,224,466
Ensembl chr23:35,197,985...35,223,137

G

sphingomyelin phosphodiesterase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:58,965,965...59,057,823
Ensembl chr 5:59,029,093...59,059,577

G

sphingosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:45,290,147...45,295,175
Ensembl chr16:45,290,421...45,293,128

G

serine and arginine rich splicing factor 11

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

NCBI chr20:62,885,980...62,932,394
Ensembl chr20:62,883,026...62,916,436

G

serine and arginine rich splicing factor 2

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

NCBI chr16:44,945,193...44,948,496
Ensembl chr16:44,945,200...44,946,438

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

G

telomerase reverse transcriptase

severity

ClinVar Annotator: match by term: Myelodysplasia

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

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

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 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795

G

tumor necrosis factor

disease_progression

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

PMID:10697556 PMID:15888251

RGD:10450530 RGD:10450881

G

tumor protein p53

no_association
treatment
disease_progression

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

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

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

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

X-ray repair cross complementing 1

no_association

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

NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094

G

zinc finger protein, FOG family member 2

NCBI chr 8:100,138,867...100,620,355

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:14,247,231...14,279,466
Ensembl chr X:14,247,287...14,279,448

myelodysplastic/myeloproliferative neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

death inducer-obliterator 1

NCBI chr 2:1,285,027...1,345,726
Ensembl chr 2:1,285,051...1,345,846

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:20601953 PMID:24218139

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

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 chr 2:36,735,449...36,810,447
Ensembl chr 2:36,735,830...36,812,387

G

autophagy related 2B

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr24:74,163,750...74,246,131
Ensembl chr24:74,163,442...74,246,116

G

bradykinin receptor B1

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr24:74,136,464...74,146,668
Ensembl chr24:74,145,531...74,146,592

G

bradykinin receptor B2

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr24:74,084,907...74,125,604
Ensembl chr24:74,118,210...74,122,909

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 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792

G

chromosome unknown C14orf132 homolog

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr24:73,916,853...73,967,291

G

ERCC excision repair 1, endonuclease non-catalytic subunit

NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

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

NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

PMID:20601953 PMID:21921040

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:multiple:

NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849

G

fms related receptor tyrosine kinase 3 ligand

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

NCBI chr 6:42,653,820...42,665,017
Ensembl chr 6:42,654,412...42,660,458

G

GATA binding protein 1

OMIM:254450

NCBI chr X:45,912,638...45,920,415
Ensembl chr X:45,917,231...45,920,268

G

GSK3B interacting protein

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr24:74,246,221...74,270,608
Ensembl chr24:74,246,255...74,271,765

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 chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649

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 chr12:74,345,243...74,372,778
Ensembl chr12:74,346,706...74,372,729

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 chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710

G

lysine methyltransferase 2A

exacerbates

DNA:mutations:multiple (human)

NCBI chr 1:109,819,748...109,912,763
Ensembl chr 1:109,853,758...109,908,113

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 chr20:89,457,549...89,474,756
Ensembl chr20:89,459,493...89,474,352

G

MYB proto-oncogene, transcription factor

OMIM:254450

NCBI chr13:38,203,923...38,242,148
Ensembl chr13:38,203,731...38,241,864

G

nuclear receptor corepressor 2

OMIM:254450

NCBI chr11:119,675,363...119,917,059
Ensembl chr11:119,676,345...119,917,000

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 chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:25741868 PMID:26936507 PMID:32581362

NCBI chr 2:26,344,480...26,367,448
Ensembl chr 2:26,343,450...26,367,776

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr24:73,556,188...73,570,376
Ensembl chr24:73,566,270...73,570,348

G

transforming growth factor beta 1

treatment

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

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

tumor protein p53

disease_progression

associated with Myelodysplastic Syndromes;

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

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 chr22:51,004,739...51,031,379
Ensembl chr22:51,002,196...51,028,955

Myeloid Leukemia, Accelerated Phase

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,095,592...22,104,894

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 chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734

G

BCR activator of RhoGEF and GTPase

disease_progression

NCBI chr19:2,569,841...2,703,703
Ensembl chr19:2,566,190...2,702,920

G

cytochrome P450 family 3 subfamily A member 5

treatment

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

NCBI chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs11615 (human)

NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967

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 chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chr12:5,145,194...5,158,659
Ensembl chr12:5,145,844...5,150,274

myeloid neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

autophagy related 2B

CTD Direct Evidence: marker/mechanism

NCBI chr24:74,163,750...74,246,131
Ensembl chr24:74,163,442...74,246,116

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr19:2,569,841...2,703,703
Ensembl chr19:2,566,190...2,702,920

G

calreticulin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792

G

Cbl proto-oncogene

disease_progression

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

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

RGD:11038798 RGD:11038808

NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, plasma membrane

NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819

G

early growth response 1

NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chr11:11,567,522...11,812,292
Ensembl chr11:11,567,632...11,811,716

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

coagulation factor III, tissue factor

treatment

NCBI chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408

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 chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508

G

FGFR1 oncogene partner 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:26,686,891...26,715,379
Ensembl chr11:26,686,962...26,713,485

G

fms related receptor tyrosine kinase 3

NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849

G

growth factor independent 1 transcriptional repressor

NCBI chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chr12:5,145,194...5,158,659
Ensembl chr12:5,145,844...5,150,274

G

glutathione peroxidase 1

DNA:polymorphism: :p.P198L (human)

NCBI chr22:10,754,976...10,756,617

G

GSK3B interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr24:74,246,221...74,270,608
Ensembl chr24:74,246,255...74,271,765

G

heat shock protein family A (Hsp70) member 5

NCBI chr12:12,920,705...12,925,888
Ensembl chr12:12,920,710...12,927,431

G

insulin like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930

G

insulin like 6

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chr12:74,345,243...74,372,778
Ensembl chr12:74,346,706...74,372,729

G

interferon regulatory factor 4

NCBI chr17:71,739,920...71,758,811

G

interferon regulatory factor 8

NCBI chr 5:71,301,878...71,325,622
Ensembl chr 5:71,302,233...71,325,613

G

Janus kinase 2

no_association
severity

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

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

RGD:10449376 RGD:10449393

NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710

G

KRAS proto-oncogene, GTPase

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

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

MDS1 and EVI1 complex locus

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

PMID:9044825 PMID:29047144

NCBI chr15:19,726,423...20,320,832
Ensembl chr15:20,256,384...20,320,834

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:89,457,549...89,474,756
Ensembl chr20:89,459,493...89,474,352

G

methylenetetrahydrofolate reductase

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

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

nucleophosmin 1

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

NCBI chr23:73,555,020...73,575,910
Ensembl chr23:73,555,260...73,575,925

G

NAD(P)H quinone dehydrogenase 1

NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599

G

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

NCBI chr17:69,149,197...69,168,476
Ensembl chr17:69,147,937...69,161,045

G

NRAS proto-oncogene, GTPase

disease_progression

NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

zinc finger MYM-type containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:890,747...1,018,558
Ensembl chr 3:893,857...1,017,283

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 chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234

myeloproliferative neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

NCBI chr 2:36,735,449...36,810,447
Ensembl chr 2:36,735,830...36,812,387

G

colony stimulating factor 3 receptor

NCBI chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618

G

cut like homeobox 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm

NCBI chr28:10,901,529...11,370,834
Ensembl chr28:10,937,512...11,370,702

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 chr23:79,522,265...79,528,628
Ensembl chr23:79,522,479...79,527,570

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chr11:11,567,522...11,812,292
Ensembl chr11:11,567,632...11,811,716

G

inositol-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:35101336

NCBI chr25:3,009,464...3,117,729
Ensembl chr25:3,009,353...3,118,235

G

Janus kinase 2

NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710

G

neurofibromin 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307

G

notch receptor 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585

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 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

G

platelet derived growth factor receptor beta

DNA:translocation: :

NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

transcription factor 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr 6:1,393,147...1,440,515
Ensembl chr 6:1,393,107...1,440,479

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 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

myopathy, lactic acidosis, and sideroblastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1 like

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

PMID:25741868 PMID:28492532

NCBI chr11:32,114,642...32,178,330
Ensembl chr11:32,114,675...32,177,661

G

pseudouridine synthase 1

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

PMID:25741868 PMID:28492532

NCBI chr11:127,307,955...127,327,596
Ensembl chr11:127,308,053...127,328,301

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 chr11:32,181,214...32,192,654
Ensembl chr11:32,181,397...32,192,454

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 chr11:127,307,955...127,327,596
Ensembl chr11:127,308,053...127,328,301

myopathy, lactic acidosis, and sideroblastic anemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1 like

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

PMID:25741868 PMID:28492532

NCBI chr11:32,114,642...32,178,330
Ensembl chr11:32,114,675...32,177,661

G

tyrosyl-tRNA synthetase 2

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

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

NCBI chr11:32,181,214...32,192,654
Ensembl chr11:32,181,397...32,192,454

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 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481

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 chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

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 6:6,250,422...6,289,264

G

complement C5

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

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

NCBI chr12:18,525,855...18,624,048
Ensembl chr12:18,525,880...18,623,636

G

C-X-C motif chemokine receptor 4

treatment

NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309

G

major histocompatibility complex, class II, DQ alpha 1

DNA:polymorphism, haplotype

NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871

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:13,787,658...13,803,575
Ensembl chr X:13,787,646...13,803,405

G

phosphatidylinositol glycan anchor biosynthesis class T

CTD Direct Evidence: marker/mechanism

NCBI chr 2:18,408,789...18,419,186
Ensembl chr 2:18,408,758...18,419,103

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:13,787,658...13,803,575
Ensembl chr X:13,787,646...13,803,405

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chr 2:18,408,789...18,419,186
Ensembl chr 2:18,408,758...18,419,103

Paroxysmal Nocturnal Hemoglobinuria 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2

PMID:23733340 PMID:25741868 PMID:28492532

NCBI chr 2:18,408,789...18,419,186
Ensembl chr 2:18,408,758...18,419,103

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566

G

telomerase reverse transcriptase

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

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 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

BCL2 like 1

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

NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669

G

elastase, neutrophil expressed

protein:increased expression:plasma:

PMID:12186827 PMID:18768782

RGD:10450556 RGD:10450557

NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725

G

erythropoietin receptor

mRNA:decreased expression:blood cell:

NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

NCBI chr 8:28,778,713...28,851,907

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 chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649

G

interferon alpha 2

CTD Direct Evidence: therapeutic

NCBI chr12:58,468,018...58,469,825

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 chr12:74,345,243...74,372,778
Ensembl chr12:74,346,706...74,372,729

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 chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710

G

glutathione S-transferase Mu 1

susceptibility

NCBI chr20:23,854,969...23,861,634

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 chr22:53,362,464...53,370,526
Ensembl chr22:53,362,918...53,370,462

G

acyl-CoA dehydrogenase family member 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:57,632,139...57,706,468
Ensembl chr15:57,626,742...57,707,504

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 chr22:52,143,869...52,166,123
Ensembl chr22:52,144,454...52,169,365

G

atypical chemokine receptor 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:57,664,659...57,670,334
Ensembl chr15:57,665,407...57,666,459

G

acid phosphatase 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:57,887,528...57,934,851
Ensembl chr15:57,887,365...57,934,707

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 chr22:57,427,711...57,589,440

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 chr22:54,848,868...54,933,415
Ensembl chr22:54,848,901...54,934,629

G

angiomotin like 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:56,002,474...56,021,838
Ensembl chr15:56,003,236...56,022,123

G

anaphase promoting complex subunit 13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:55,892,385...55,901,168
Ensembl chr15:55,895,970...55,900,256

G

arginine-fifty homeobox

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:59,301,808...59,304,209

G

asteroid homolog 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:59,178,704...59,186,556

G

ATPase secretory pathway Ca2+ transporting 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr15:59,189,075...59,348,684
Ensembl chr15:59,188,225...59,311,709

G

beaded filament structural protein 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:56,854,537...56,920,987
Ensembl chr15:56,855,060...56,918,760

G

calcium sensing receptor

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756

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 chr22:56,889,424...56,939,915

G

CD86 molecule

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366

G

CDV3 homolog

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:56,748,457...56,752,135
Ensembl chr15:56,758,078...56,771,132

G

centrosomal protein 63

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:55,821,117...55,892,951
Ensembl chr15:55,821,487...55,892,398

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 chr22:54,581,573...54,622,842
Ensembl chr22:54,581,104...54,622,970

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 chr22:52,066,203...52,146,937
Ensembl chr22:52,075,051...52,148,337

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 chr22:54,019,128...54,276,242
Ensembl chr22:54,025,361...54,276,197

G

carbohydrate sulfotransferase 13

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

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

NCBI chr22:54,471,165...54,491,436
Ensembl chr22:54,471,879...54,490,342

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 chr22:51,877,171...51,891,912
Ensembl chr22:51,876,545...51,890,946

G

collagen type VI alpha 5 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr15:59,713,906...59,826,244
Ensembl chr15:59,709,540...59,802,956

G

collagen type VI alpha 6 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr15:59,517,463...59,671,767
Ensembl chr15:59,519,231...59,670,639

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 chr22:51,787,002...51,812,031
Ensembl chr22:51,787,340...51,812,026

G

copine 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:58,199,223...58,703,663

G

cystatin A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,519,085...58,536,163
Ensembl chr22:58,519,085...58,536,339

G

chromosome unknown C3orf22 homolog

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

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

NCBI chr22:54,455,637...54,465,446
Ensembl chr22:54,461,735...54,465,250

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 chr22:52,579,012...52,580,072
Ensembl chr22:52,579,259...52,579,957

G

DnaJ heat shock protein family (Hsp40) member C13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:57,727,636...57,846,469
Ensembl chr15:57,726,576...57,846,478

G

deltex E3 ubiquitin ligase 3L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,287,331...58,298,519
Ensembl chr22:58,290,764...58,298,376

G

ELL associated factor 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,966,640...59,025,158
Ensembl chr22:58,974,409...59,025,143

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 chr22:52,633,932...52,887,812
Ensembl chr22:52,633,274...52,887,838

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 chr22:51,628,680...51,656,867
Ensembl chr22:51,629,304...51,656,596

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 chr22:52,023,814...52,066,719
Ensembl chr22:52,023,262...52,066,700

G

EPH receptor B1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:55,144,178...55,592,252
Ensembl chr15:55,143,630...55,589,862

G

family with sequence similarity 162 member A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,451,115...58,476,960
Ensembl chr22:58,449,189...58,476,959

G

F-box protein 40

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:59,259,107...59,295,391
Ensembl chr22:59,256,354...59,295,017

G

follistatin like 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:60,371,309...60,427,259
Ensembl chr22:60,371,554...60,428,764

G

GATA binding protein 2

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

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

NCBI chr22:52,549,112...52,562,911
Ensembl chr22:52,555,738...52,562,909

G

golgin B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:59,124,023...59,223,181
Ensembl chr22:59,143,188...59,223,656

G

glycoprotein IX platelet

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr22:52,000,620...52,013,570
Ensembl chr22:52,000,758...52,001,291

G

general transcription factor IIE subunit 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:60,057,393...60,094,926
Ensembl chr22:60,056,720...60,094,835

G

H1 histone family member O, oocyte specific

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr22:51,497,111...51,506,007

G

H1 histone family member X

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr22:51,749,560...51,751,081
Ensembl chr22:51,749,948...51,750,586

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 chr22:57,285,948...57,379,894
Ensembl chr22:57,322,657...57,381,683

G

hematopoietic cell-specific Lyn substrate 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:59,225,768...59,255,744
Ensembl chr22:59,225,750...59,256,243

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 chr22:55,782,039...55,874,679
Ensembl chr22:55,809,901...55,871,402

G

homogentisate 1,2-dioxygenase

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:60,136,293...60,192,275
Ensembl chr22:60,137,532...60,192,430

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 chr22:51,759,776...51,785,902
Ensembl chr22:51,759,715...51,785,987

G

HSPB1 associated protein 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,081,374...58,131,789
Ensembl chr22:58,081,832...58,132,236

G

intraflagellar transport 122

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr22:51,528,383...51,616,757
Ensembl chr22:51,528,254...51,616,682

G

interleukin 20 receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:53,446,410...53,493,827
Ensembl chr15:53,448,034...53,493,618

G

immunoglobulin like domain containing receptor 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303

G

IQ motif containing B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:59,025,265...59,097,930
Ensembl chr22:59,025,261...59,098,138

G

ISY1 splicing factor homolog

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr22:51,905,564...51,940,705
Ensembl chr22:51,907,290...51,938,847

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 chr22:55,944,810...56,070,605
Ensembl chr22:55,944,865...56,069,930

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 chr22:56,106,677...56,820,004
Ensembl chr22:56,151,819...56,754,538

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 chr22:53,058,678...53,128,987
Ensembl chr22:53,062,102...53,128,978

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 chr22:54,659,406...54,674,321
Ensembl chr22:54,659,703...54,674,368

G

karyopherin subunit alpha 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,346,008...58,437,737
Ensembl chr22:58,346,009...58,439,143

G

kyphoscoliosis peptidase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:55,730,153...55,780,641
Ensembl chr15:55,730,770...55,780,791

G

ropporin-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 chr22:55,052,992...55,065,866

G

ropporin-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 chr22:56,858,260...56,882,208

G

chromosome 15 C3orf36 homolog

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:56,433,105...56,435,304

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 chr22:51,616,840...51,626,232
Ensembl chr22:51,616,803...51,626,224

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 chr22:53,419,958...53,452,720
Ensembl chr22:53,420,417...53,444,095

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 chr22:53,092,970...53,354,316
Ensembl chr22:53,218,672...53,354,448

G

mitochondrial matrix import factor 23

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,477,053...58,501,342
Ensembl chr22:58,489,161...58,502,366

G

mitochondrial ribosomal protein L3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:58,732,262...58,772,638
Ensembl chr15:58,732,268...58,772,538

G

MSL complex subunit 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:54,246,090...54,290,809
Ensembl chr15:54,246,127...54,288,555

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 chr22:55,898,876...55,930,379
Ensembl chr22:55,899,901...55,930,454

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 chr22:57,032,264...57,259,253
Ensembl chr22:57,065,331...57,257,464

G

NCK adaptor protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:53,501,152...53,595,500
Ensembl chr15:53,500,623...53,523,576

G

NADH:ubiquinone oxidoreductase subunit B4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:60,219,834...60,226,180

G

NIMA related kinase 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:58,884,879...59,178,575
Ensembl chr15:58,884,771...59,175,470

G

nephrocystin 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:57,550,878...57,629,106
Ensembl chr15:57,551,189...57,592,661

G

nudix hydrolase 16

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:58,847,418...58,849,133
Ensembl chr15:58,847,560...58,849,246

G

oxysterol binding protein like 11

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

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

NCBI chr22:55,228,864...55,302,285
Ensembl chr22:55,228,900...55,302,892

G

poly(ADP-ribose) polymerase family member 14

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,135,092...58,185,988
Ensembl chr22:58,134,973...58,185,521

G

poly(ADP-ribose) polymerase family member 15

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,230,913...58,285,119
Ensembl chr22:58,231,542...58,264,046

G

poly(ADP-ribose) polymerase family member 9

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,297,526...58,336,243
Ensembl chr22:58,298,046...58,337,124

G

propionyl-CoA carboxylase subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:54,110,014...54,198,405
Ensembl chr15:54,108,389...54,198,329

G

protein disulfide isomerase family A member 5

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:57,711,049...57,806,058
Ensembl chr22:57,711,041...57,806,037

G

phosphoinositide-3-kinase regulatory subunit 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr15:59,444,570...59,515,619
Ensembl chr15:59,444,616...59,515,240

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 chr22:53,949,566...54,005,626
Ensembl chr22:53,951,119...53,999,812

G

plexin D1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr22:51,440,797...51,493,370
Ensembl chr22:51,441,127...51,495,118

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 chr22:53,370,668...53,405,832
Ensembl chr22:53,371,004...53,403,512

G

DNA polymerase theta

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:59,336,506...59,448,609
Ensembl chr22:59,336,842...59,448,604

G

protein phosphatase 2 regulatory subunit B''alpha

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:54,291,843...54,480,733

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 chr22:53,820,882...53,823,658

G

RAB43, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr22:51,945,938...51,983,412
Ensembl chr22:51,946,055...51,983,868

G

RAB6B, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:56,472,615...56,541,083
Ensembl chr15:56,472,634...56,541,434

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 chr22:52,231,481...52,309,276
Ensembl chr22:52,230,835...52,309,306

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 chr22:60,095,013...60,133,189
Ensembl chr22:60,095,066...60,136,337

G

rhodopsin

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr22:51,513,611...51,520,589
Ensembl chr22:51,515,081...51,519,974

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 chr22:52,391,793...52,417,341
Ensembl chr22:52,391,813...52,417,575

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 chr22:52,887,374...52,967,728
Ensembl chr22:52,924,819...52,967,830

G

receptor like tyrosine kinase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:56,127,048...56,217,407
Ensembl chr15:56,127,130...56,216,407

G

SEC22 homolog A, vesicle trafficking protein

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:57,597,146...57,666,370
Ensembl chr22:57,597,880...57,669,151

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 chr22:52,977,101...52,994,766
Ensembl chr22:52,976,872...52,992,039

G

semaphorin 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:57,915,118...57,968,900
Ensembl chr22:57,915,344...57,967,793

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 chr22:55,623,961...55,754,969
Ensembl chr22:55,646,406...55,754,209

G

solute carrier family 15 member 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,916,389...58,966,725
Ensembl chr22:58,913,676...58,966,906

G

solute carrier family 35 member G2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:53,601,248...53,638,034
Ensembl chr15:53,601,657...53,602,895

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 chr22:54,950,899...55,030,060
Ensembl chr22:54,966,562...55,031,564

G

solute carrier family 49 member 4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:57,998,168...58,080,900
Ensembl chr22:57,998,708...58,081,270

G

solute carrier organic anion transporter family member 2A1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:56,339,585...56,427,196
Ensembl chr15:56,339,744...56,430,032

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 chr22:55,311,896...55,389,174
Ensembl chr22:55,311,933...55,389,349

G

SRP receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:56,545,201...56,580,591
Ensembl chr15:56,544,391...56,560,045

G

STAG1 cohesin complex component

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:53,706,847...54,103,712
Ensembl chr15:53,706,974...54,101,707

G

syntaxin binding protein 5L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:59,460,278...59,938,228
Ensembl chr22:59,465,870...59,938,129

G

transferrin

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:56,586,311...56,618,304
Ensembl chr15:56,586,104...56,618,149

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 chr22:51,147,855...51,401,619
Ensembl chr22:51,375,793...51,401,626

G

transmembrane protein 108

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:56,921,064...57,248,199
Ensembl chr15:56,921,069...57,200,901

G

DNA topoisomerase II binding protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:56,679,333...56,740,773
Ensembl chr15:56,679,426...56,741,566

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 chr22:53,447,383...53,467,709
Ensembl chr22:53,449,903...53,468,442

G

thyrotropin releasing hormone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr22:51,075,814...51,079,852
Ensembl chr22:51,076,157...51,078,236

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 chr22:54,359,169...54,417,126
Ensembl chr22:54,361,034...54,417,397

G

ubiquitin like modifier activating enzyme 5

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr15:57,596,490...57,613,103
Ensembl chr15:57,592,728...57,612,928

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 chr22:56,081,897...56,097,164
Ensembl chr22:56,082,103...56,097,105

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 chr22:54,497,373...54,536,295
Ensembl chr22:54,499,487...54,535,862

G

WD repeat domain 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr22:58,444,586...58,446,316
Ensembl chr22:58,445,149...58,446,141

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 chr22:55,467,453...55,609,050

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 chr22:54,542,004...54,580,646
Ensembl chr22:54,542,167...54,579,883

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 chr16:70,226,824...70,237,000

G

fms related receptor tyrosine kinase 3 ligand

protein:increased expression:serum:

NCBI chr 6:42,653,820...42,665,017
Ensembl chr 6:42,654,412...42,660,458

G

homeostatic iron regulator

no_association

associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)
associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)

NCBI chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649

G

transcobalamin 2

protein:increased expression::

NCBI chr19:13,489,849...13,511,360
Ensembl chr19:13,490,645...13,511,810

G

telomerase reverse transcriptase

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

G

Y-box binding protein 1

NCBI chr20:90,229,927...90,250,213

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 chr16:70,226,824...70,237,000

G

complement C3

disease_progression

NCBI chr 6:6,250,422...6,289,264

G

complement factor B

disease_progression

Ensembl chr17:40,069,909...40,094,207

G

telomerase reverse transcriptase

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

tet methylcytosine dioxygenase 2

disease_progression

NCBI chr 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

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:64,633,989...64,748,638
Ensembl chr X:64,634,079...64,701,938

G

aminolevulinate dehydratase

protein:decreased activity:kidney, liver, spleen

NCBI chr12:26,173,063...26,185,456
Ensembl chr12:26,173,096...26,189,845

G

5'-aminolevulinate synthase 2

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:transversion:cds:p.F165L (human)

PMID:7949148 PMID:16716198 PMID:16892088

NCBI chr X:51,086,062...51,108,564
Ensembl chr X:51,086,066...51,103,505

G

calreticulin

DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)

NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr 6:16,853,397...16,861,924
Ensembl chr 6:16,852,971...16,861,964

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr24:73,387,941...73,398,208
Ensembl chr24:73,387,641...73,398,233

G

heat shock protein family A (Hsp70) member 9

CTD Direct Evidence: marker/mechanism

NCBI chr23:41,230,675...41,251,177
Ensembl chr23:41,231,364...41,251,150

G

pseudouridine synthase 1

ClinVar Annotator: match by term: Sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr11:127,307,955...127,327,596
Ensembl chr11:127,308,053...127,328,301

G

solute carrier family 25 member 38

CTD Direct Evidence: marker/mechanism

NCBI chr15:39,051...53,170
Ensembl chr15:38,881...52,775

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:16910769 PMID:21326867

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

transferrin receptor

mRNA,protein:increased expression:erythroblast:

NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584

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:mutations:exons:p.K299Q,A172T(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)

OMIM
ClinVar
RGD

PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More...

RGD:11035241 RGD:11035243

NCBI chr X:51,086,062...51,108,564
Ensembl chr X:51,086,066...51,103,505

G

apurinic/apyrimidinic endodeoxyribonuclease 2

ClinVar Annotator: match by term: Anemia, sideroblastic, 1

NCBI chr X:51,077,496...51,084,787
Ensembl chr X:51,077,025...51,084,783

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 chr15:39,051...53,170
Ensembl chr15:38,881...52,775

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 chr19:11,621,205...11,639,750
Ensembl chr19:11,621,420...11,636,396

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 chr22:39,220,163...39,247,110
Ensembl chr22:39,222,663...39,246,112

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 chr16:57,339,492...57,343,085
Ensembl chr16:57,339,457...57,343,358

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 chr20:89,457,549...89,474,756
Ensembl chr20:89,459,493...89,474,352

Thrombocythemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin like 6

ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3

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

NCBI chr12:74,345,243...74,372,778
Ensembl chr12:74,346,706...74,372,729

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 chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710

Thrombocytopenia, Anemia, and Myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

megakaryocyte and platelet inhibitory receptor G6b

ClinVar Annotator: match by term: MPIG6B-related condition | ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis

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

NCBI chr17:40,297,946...40,300,442
Ensembl chr17:40,298,473...40,300,174

thrombocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calreticulin

CTD Direct Evidence: marker/mechanism
human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human)

NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792

G

carboxypeptidase B2

NCBI chr 3:24,108,854...24,161,669
Ensembl chr 3:24,109,416...24,161,408

G

erythropoietin receptor

NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066

G

interleukin 1 beta

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

Janus kinase 2

DNA:point mutations: :p.S755R, p.R938Q (human)
associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F
CTD Direct Evidence: marker/mechanism
essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F

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

RGD:10449375 RGD:15039391 RGD:1627655

NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710

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 chr20:89,457,549...89,474,756
Ensembl chr20:89,459,493...89,474,352

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619

G

thrombopoietin

susceptibility

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

PMID:9694695 PMID:15813844 PMID:33122006

NCBI chr15:5,040,684...5,048,387

Thrombocytosis, Benign Familial Microcytic

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:16199547 More...

NCBI chr20:89,457,549...89,474,756
Ensembl chr20:89,459,493...89,474,352

transient myeloproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

ClinVar Annotator: match by term: TRANSIENT ABNORMAL MYELOPOIESIS | ClinVar Annotator: match by term: Transient myeloproliferative syndrome

PMID:25741868 PMID:27993330 PMID:28492532

NCBI chr X:45,912,638...45,920,415
Ensembl chr X:45,917,231...45,920,268

X-linked sideroblastic anemia with ataxia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

susceptibility

ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
DNA:missense mutation: :p.I400M (human)

OMIM
ClinVar
RGD

PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More...

NCBI chr X:64,633,989...64,748,638
Ensembl chr X:64,634,079...64,701,938

G

5'-aminolevulinate synthase 2

ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia

NCBI chr X:51,086,062...51,108,564
Ensembl chr X:51,086,066...51,103,505

Term paths to the root

Path 1
Term	Annotations
disease	15412
disease of anatomical entity	15076
hematopoietic system disease	3640
bone marrow disease	784
Bone Marrow Neoplasms	461
bone marrow cancer +	461
Path 2
Term	Annotations
disease	15412
disease of anatomical entity	15076
Hemic and Lymphatic Diseases	4098
hematopoietic system disease	3640
Hematologic Neoplasms	1007
Bone Marrow Neoplasms	461
bone marrow cancer +	461

paths to the root