Bone Marrow Neoplasms - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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

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

show annotations for term's descendants Sort by:
Rat (515) Mouse (591) Human (13578) Chinchilla (440) Bonobo (476) Dog (473) Squirrel (436) Pig (464) Green Monkey (461) Naked Mole-rat (436) All
Genes (493) Cell Lines (98)

Bone Marrow Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 (granulocyte)

CTD Direct Evidence: marker/mechanism

NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455

G

transformation related protein 53

disease_progression

RGD

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

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 chr13:55,678,223...55,684,471
Ensembl chr13:55,678,223...55,684,471

G

FMS-like tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299

G

growth factor independent 1B

mRNA:increased expression:bone marrow cell:

RGD

NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994

G

homeobox B9

CTD Direct Evidence: marker/mechanism

NCBI chr11:96,162,156...96,167,421
Ensembl chr11:96,162,283...96,167,421

G

lysine (K)-specific methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594

G

nucleophosmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:33,102,498...33,114,143
Ensembl chr11:33,102,287...33,113,206

G

nucleoporin 98

CTD Direct Evidence: marker/mechanism

NCBI chr 7:101,768,607...101,859,359
Ensembl chr 7:101,768,605...101,859,383

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262

G

transformation related protein 53

CTD Direct Evidence: marker/mechanism

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

alpha-thalassemia myelodysplasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

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

OMIM
ClinVar
CTD

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

NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009

AMED syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alcohol dehydrogenase 5 (class III), chi polypeptide

ClinVar Annotator: match by term: AMED syndrome, digenic

PMID:25741868 PMID:33355142

NCBI chr 3:138,142,961...138,161,260
Ensembl chr 3:138,148,854...138,161,260

G

aldehyde dehydrogenase 2, mitochondrial

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

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

NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887

atypical chronic myeloid leukemia, BCR-ABL1 negative

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

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

NCBI chr 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927

G

fibroblast growth factor receptor 1

RGD

NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734

G

major facilitator superfamily domain containing 11

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

NCBI chr11:116,743,037...116,766,486
Ensembl chr11:116,743,266...116,766,461

G

runt related transcription factor 1

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

NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:78,793,593...79,153,659
Ensembl chr18:78,793,595...79,152,606

G

serine and arginine-rich splicing factor 2

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

NCBI chr11:116,740,723...116,744,511
Ensembl chr11:116,740,727...116,743,920

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 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900

autosomal dominant sideroblastic anemia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heat shock protein 9

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

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

NCBI chr18:35,070,467...35,087,404
Ensembl chr18:35,070,467...35,087,410

autosomal recessive pyridoxine-refractory sideroblastic anemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:104,998,877...105,007,170
Ensembl chr12:104,998,947...105,009,165

G

solute carrier family 25, member 38

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

OMIM
CTD
ClinVar

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

NCBI chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570

autosomal recessive pyridoxine-refractory sideroblastic anemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin 5

ClinVar Annotator: match by term: Sideroblastic anemia 3

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

NCBI chr12:104,998,877...105,007,170
Ensembl chr12:104,998,947...105,009,165

Autosomal Sideroblastic Anemia

term browser

Symbol

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 chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628

Blast Crisis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation-induced cytidine deaminase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753

G

estrogen receptor 2 (beta)

RGD

NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033

G

heme oxygenase 1

RGD

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

G

microRNA 150

miRNA:decreased expression:leukocytes

NCBI chr 7:44,771,181...44,771,245
Ensembl chr 7:44,771,181...44,771,245

G

transcobalamin 2

protein:increased expression::

RGD

NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159

Bone Marrow Failure Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal recognition particle 72

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

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

NCBI chr 5:77,122,548...77,147,782
Ensembl chr 5:77,122,530...77,147,784

chronic myelogenous leukemia, BCR-ABL1 positive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

c-abl oncogene 1, non-receptor tyrosine kinase

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

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

NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239

G

BCR activator of RhoGEF and GTPase

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

PMID:25741868 PMID:28492532

NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753

G

IKAROS family zinc finger 1

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

NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926

G

Kirsten rat sarcoma viral oncogene homolog

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

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

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

G

neuroblastoma ras oncogene

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

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

G

splicing factor 3b, subunit 1

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

NCBI chr 1:55,024,328...55,066,660
Ensembl chr 1:55,024,328...55,066,640

chronic myeloid leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family B member 1A

treatment
susceptibility

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

RGD

PMID:24581936 PMID:26250462

RGD:11081178, RGD:11081180

NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575

G

ATP-binding cassette, sub-family member 2

treatment

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

RGD

NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179

G

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

treatment
susceptibility

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

RGD

PMID:24581936 PMID:24123600 PMID:26250462

RGD:11081178, RGD:11081181, RGD:11081180

NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661

G

c-abl oncogene 1, non-receptor tyrosine kinase

susceptibility
treatment

ClinVar Annotator: match by term: ABL1-related disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib
CTD Direct Evidence: marker/mechanism
DNA:gene fusion
DNA:missense mutations: :multiple

ClinVar
CTD
OMIM
RGD

PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 PMID:12663457 More...

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

NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239

G

angiotensin I converting enzyme

RGD

NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

angiotensinogen

RGD

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

thymoma viral proto-oncogene 1

protein:increased phosphorylation:blood

RGD

NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: therapeutic

PMID:19503090 PMID:19823023

NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139

G

BCL2-like 1

RGD

NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648

G

BCR activator of RhoGEF and GTPase

treatment
susceptibility
disease_progression

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

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

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

NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753

G

baculoviral IAP repeat-containing 5

CTD Direct Evidence: therapeutic

NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569

G

basic helix-loop-helix ARNT like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:112,777,820...112,913,333
Ensembl chr 7:112,806,672...112,913,333

G

carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729

G

caspase 6

treatment

human cells in mouse model

RGD

NCBI chr 3:129,695,064...129,707,761
Ensembl chr 3:129,695,074...129,707,752

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799

G

CD40 antigen

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

RGD

NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868

G

cyclin dependent kinase inhibitor 1B

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

RGD

NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476

G

cyclin dependent kinase inhibitor 2A

treatment

RGD

NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890

G

cysteine and histidine rich domain containing 1

OMIM:608232

NCBI chr 9:18,203,563...18,225,296
Ensembl chr 9:18,203,421...18,228,738

G

v-crk avian sarcoma virus CT10 oncogene homolog-like

protein:increased phosphorylation:blood

RGD

NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298

G

cryptochrome circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,967,564...85,020,918
Ensembl chr10:84,967,564...85,020,928

G

cryptochrome circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:92,233,991...92,264,426
Ensembl chr 2:92,233,991...92,264,388

G

cytochrome P450, family 1, subfamily a, polypeptide 1

treatment

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

RGD

NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107

G

cytochrome P450, family 3, subfamily a, polypeptide 13

susceptibility
treatment

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

RGD

PMID:21039054 PMID:19584153

RGD:11353798, RGD:11353810

NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881

G

DNA methyltransferase 1

disease_progression

RGD

NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184

G

DNA methyltransferase 3A

disease_progression

RGD

NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443

G

DNA methyltransferase 3B

disease_progression

RGD

NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650

G

E2F transcription factor 1

mRNA:increased expression:blood

RGD

NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812

G

excision repair cross-complementing rodent repair deficiency, complementation group 2

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

RGD

PMID:24955348 PMID:25311495

RGD:11252188, RGD:11060463

NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

RGD

NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275

G

Fas cell surface death receptor

susceptibility

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

RGD

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

Fas ligand

susceptibility

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

RGD

NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064

G

Fc receptor, IgG, low affinity III

RGD

NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504

G

fibroblast growth factor receptor 3

mRNA:increased expression:peripheral blood (human)

RGD

NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412

G

growth factor receptor bound protein 2-associated protein 2

disease_progression

protein:increased expression:bone marrow

RGD

NCBI chr 7:96,730,958...96,958,158
Ensembl chr 7:96,730,793...96,958,153

G

glutathione peroxidase 1

no_association

DNA:polymorphism: :p.P198L (human)

RGD

NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542

G

glutathione S-transferase, pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985

G

histocompatibility 2, class II antigen A, alpha

onset

DNA:polymorphism, haplotype

RGD

PMID:17893434 PMID:17387388

RGD:11041777, RGD:11041781

NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797

G

histocompatibility 2, class II antigen A, beta 1

DNA:polymorphism, haplotype

RGD

NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393

G

hes family bHLH transcription factor 1

rat gene in a mouse model

RGD

NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614

G

hyaluronan mediated motility receptor (RHAMM)

CTD Direct Evidence: marker/mechanism

NCBI chr11:40,592,215...40,624,290
Ensembl chr11:40,592,222...40,624,249

G

heme oxygenase 1

RGD

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

G

heat shock protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559

G

interferon alpha 2

CTD Direct Evidence: therapeutic

PMID:10520005 PMID:10715301 PMID:12620292

NCBI chr 4:88,601,444...88,602,016
Ensembl chr 4:88,601,118...88,602,149

G

interleukin 10

treatment

RGD

NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711

G

interleukin 1 beta

severity

RGD

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

interleukin 1 receptor antagonist

severity

RGD

NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506

G

mitogen-activated protein kinase 14

CTD Direct Evidence: therapeutic

NCBI chr17:28,910,316...28,967,379
Ensembl chr17:28,910,303...28,967,380

G

transformed mouse 3T3 cell double minute 2

onset

DNA:SNP:promoter:rs2279744(human)

RGD

NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663

G

microRNA 150

miRNA:decreased expression:leukocytes

NCBI chr 7:44,771,181...44,771,245
Ensembl chr 7:44,771,181...44,771,245

G

myeloid leukemia factor 1

RGD

NCBI chr 3:67,281,430...67,307,333
Ensembl chr 3:67,281,430...67,307,336

G

methylenetetrahydrofolate reductase

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

RGD

NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008

G

nicastrin

OMIM:608232

NCBI chr 1:171,893,580...171,910,356
Ensembl chr 1:171,893,580...171,910,362

G

nucleophosmin 1

RGD

NCBI chr11:33,102,498...33,114,143
Ensembl chr11:33,102,287...33,113,206

G

NAD(P)H dehydrogenase, quinone 1

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

RGD

NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838

G

platelet/endothelial cell adhesion molecule 1

protein:increased expression:serum (human)

RGD

NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454

G

period circadian clock 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,985,934...69,000,791
Ensembl chr11:68,986,043...69,000,786

G

period circadian clock 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:91,343,699...91,387,028
Ensembl chr 1:91,343,704...91,387,046

G

period circadian clock 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:151,081,475...151,129,167
Ensembl chr 4:151,088,109...151,129,122

G

PRAME like, X-linked 1

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

CTD
RGD

PMID:17157168 PMID:20838376

NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454

G

proteinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,715,499...79,719,008
Ensembl chr10:79,710,310...79,719,008

G

splicing factor 3b, subunit 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

NCBI chr 1:55,024,328...55,066,660
Ensembl chr 1:55,024,328...55,066,640

G

SH2B adaptor protein 3

OMIM:608232

NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709

G

signal-induced proliferation associated gene 1

OMIM:608232

NCBI chr19:5,701,211...5,713,758
Ensembl chr19:5,701,213...5,713,735

G

SMAD family member 4

mRNA:decreased expression:blood

RGD

NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851

G

serine and arginine-rich splicing factor 1

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

RGD

NCBI chr11:87,937,325...87,944,583
Ensembl chr11:87,938,199...87,944,581

G

signal transducer and activator of transcription 5A

disease_progression
treatment

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

RGD

PMID:16522816 PMID:31952546 PMID:31952546

RGD:151667903, RGD:151667904, RGD:151667904

NCBI chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17157168 PMID:15068898

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

G

transforming growth factor, beta 1

protein:increased expression:serum

RGD

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

G

ubiquitin specific peptidase 15

mRNA, protein:decreased expression:PBMC (human)

RGD

NCBI chr10:122,940,911...123,032,924
Ensembl chr10:122,940,911...123,032,900

G

vascular endothelial growth factor A

susceptibility

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

RGD

NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961

G

X-ray repair complementing defective repair in Chinese hamster cells 1

susceptibility

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

RGD

NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865

chronic myelomonocytic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

DNA:mutations:exon:

RGD

NCBI chr 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927

G

cyclin dependent kinase inhibitor 2B

DNA:altered methylation:5'UTR:

RGD

NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276

G

colony stimulating factor 3 receptor

disease_progression

DNA:mutations:multiples:

RGD

NCBI chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

DNA:mutations:multiple (human)

RGD

NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275

G

lysine (K)-specific demethylase 6A

NCBI chr X:18,027,101...18,147,061
Ensembl chr X:18,028,814...18,146,175

G

neuroblastoma ras oncogene

onset

RGD

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

G

tet methylcytosine dioxygenase 2

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

RGD

NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900

chronic neutrophilic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

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

RGD

PMID:24081659 PMID:23604229

RGD:10450482, RGD:10450483

NCBI chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233

erythroleukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:31,211,964...31,235,823
Ensembl chr 5:31,212,124...31,235,823

G

dihydroorotate dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:110,319,876...110,335,330
Ensembl chr 8:110,317,975...110,335,305

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408

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 chr12:105,579,798...105,651,554
Ensembl chr12:105,582,395...105,651,470

G

bradykinin receptor, beta 1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687

G

bradykinin receptor, beta 2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496

G

calreticulin

severity

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

OMIM
ClinVar
RGD

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

RGD:11352751, RGD:11352747

NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799

G

CD40 ligand

protein:increased expression:serum (human)

RGD

NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402

G

RIKEN cDNA D430019H16 gene

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr12:105,420,115...105,459,354
Ensembl chr12:105,420,115...105,459,354

G

elastase, neutrophil expressed

protein:increased expression:plasma:

RGD

NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr12:105,651,611...105,669,317
Ensembl chr12:105,651,088...105,669,282

G

interferon alpha 2

CTD Direct Evidence: therapeutic

NCBI chr 4:88,601,444...88,602,016
Ensembl chr 4:88,601,118...88,602,149

G

Janus kinase 2

severity

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

MouseDO
CTD
RGD

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

NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480

G

myeloproliferative leukemia virus oncogene

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

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

RGD:10449014, RGD:10449016

NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710

G

myeloblastosis oncogene

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

NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883

G

platelet derived growth factor, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125

G

platelet derived growth factor, B polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178

G

SH2B adaptor protein 3

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 chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709

G

T cell lymphoma breakpoint 1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr12:105,183,012...105,188,996
Ensembl chr12:105,183,009...105,189,052

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

G

thrombopoietin

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

OMIM
ClinVar
RGD

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

NCBI chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261

G

Tcl1 upstream neural differentiation associated RNA

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr12:105,303,087...105,350,191
Ensembl chr12:105,300,129...105,350,191

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

RGD

NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337

G

Von Willebrand factor

RGD

NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642

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 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433

Familial Myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

RGD

NCBI chr X:7,825,504...7,842,844
Ensembl chr X:7,825,499...7,844,310

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Familial myelofibrosis

NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709

G

vacuolar protein sorting 45

CTD Direct Evidence: marker/mechanism

NCBI chr 3:95,907,144...95,969,715
Ensembl chr 3:95,907,144...95,965,778

Ghosal hematodiaphyseal syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thromboxane A synthase 1, platelet

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

OMIM
ClinVar
CTD

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

NCBI chr 6:38,817,897...39,061,524
Ensembl chr 6:38,852,338...39,061,519

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, mitochondrial

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

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

NCBI chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731

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 (proton-coupled divalent metal ion transporters), member 2

ClinVar Annotator: match by term: SLC11A2-related condition

PMID:25741868 PMID:28492532 PMID:35457224

NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953

juvenile myelomonocytic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A kinase anchor protein 12

disease_progression

RGD

NCBI chr10:4,216,329...4,309,471
Ensembl chr10:4,216,380...4,309,470

G

Rho GTPase activating protein 26

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

OMIM
CTD
ClinVar

NCBI chr18:38,734,531...39,509,338
Ensembl chr18:39,126,198...39,509,337
Ensembl chr18:39,126,198...39,509,337

G

ASXL transcriptional regulator 1

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

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

NCBI chr 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927

G

Casitas B-lineage lymphoma

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

ClinVar
OMIM
CTD
RGD

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

NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346

G

colony stimulating factor 2 (granulocyte-macrophage)

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22315502 PMID:9389708

NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493

G

DNA methyltransferase 3A

CTD Direct Evidence: marker/mechanism

NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275

G

FMS-like tyrosine kinase 3

OMIM:607785

NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014

G

Janus kinase 3

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23832011 PMID:23832011

NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219

G

Kirsten rat sarcoma viral oncogene homolog

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

CTD
ClinVar
MouseDO

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

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

G

neurofibromin 1

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

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

G

neuroblastoma ras oncogene

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

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

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

G

protein tyrosine phosphatase, non-receptor type 11

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

OMIM
ClinVar
MouseDO
CTD
RGD

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

NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460

G

Rac family small GTPase 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:78,443,369...78,456,983
Ensembl chr15:78,443,367...78,456,983

G

related RAS viral (r-ras) oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 7:44,665,686...44,671,070
Ensembl chr 7:44,667,385...44,671,071

G

related RAS viral (r-ras) oncogene 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:113,646,017...113,717,016
Ensembl chr 7:113,646,017...113,717,016

G

runt related transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:23832011 PMID:26457647

NCBI chr18:78,793,593...79,153,659
Ensembl chr18:78,793,595...79,152,606

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr X:162,719,268...162,741,662
Ensembl chr X:162,718,439...162,741,657

Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9-like

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

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

NCBI chr 6:3,372,257...3,399,458
Ensembl chr 6:3,372,257...3,399,572

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 (Junior blood group)

treatment

RGD

PMID:26314844 PMID:16917002

RGD:11081075, RGD:11081144

NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661

G

angiotensin I converting enzyme

protein:increased activity:serum

RGD

NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

albumin

disease_progression

RGD

NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr11:60,428,509...60,449,338
Ensembl chr11:60,427,207...60,449,338

G

apolipoprotein E

treatment

RGD

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:71,061,314...71,146,125
Ensembl chr12:71,062,764...71,145,366

G

ataxia telangiectasia mutated

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:172,198,116...172,212,825
Ensembl chr 2:172,198,110...172,212,455

G

beta-2 microglobulin

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

PMID:26619011 PMID:32856850

NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564

G

Brca1 associated protein 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:71,066,694...71,142,300
Ensembl chr 1:71,066,657...71,142,305

G

B cell leukemia/lymphoma 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004

G

BCL2-like 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12429644 PMID:14656874

NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648

G

Bcl2-like 10

protein:increased expression:bone marrow :

RGD

NCBI chr 9:75,255,040...75,258,922
Ensembl chr 9:75,255,040...75,258,931

G

BCL6 co-repressor-like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:47,430,235...47,496,945
Ensembl chr X:47,430,235...47,496,926

G

BCL2/adenovirus E1B interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248

G

Braf transforming gene

ClinVar Annotator: match by term: Myelomatosis

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

NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397

G

breast cancer 2, early onset

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:96,452,863...96,458,675
Ensembl chr10:96,452,868...96,458,671

G

Casitas B-lineage lymphoma

mRNA:decreased expression:mononuclear cell:

RGD

NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346

G

chromobox 7

susceptibility

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

CTD
RGD

PMID:23955597 PMID:23955597

NCBI chr15:79,800,005...79,855,344
Ensembl chr15:79,800,008...79,855,320

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279

G

cellular communication network factor 1

exacerbates

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

RGD

PMID:28035364 PMID:25061178

RGD:329845528, RGD:329845546

NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736

G

cyclin D1

susceptibility

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

ClinVar
CTD
OMIM
RGD

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

RGD:1581171, RGD:11353784

NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662

G

cyclin D2

RGD

NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156

G

cyclin D3

RGD

NCBI chr17:47,815,976...47,910,614
Ensembl chr17:47,815,976...47,910,616

G

CD40 antigen

treatment

human cells in a mouse model

RGD

NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868

G

CD40 ligand

treatment
disease_progression

protein:increased expression:serum (human)

RGD

PMID:15565183 PMID:22403003 PMID:27243341

RGD:11352240, RGD:11352251, RGD:11352268

NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402

G

CD46 antigen, complement regulatory protein

protein:increased expression:plasma cell (human)

RGD

NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557

G

CD86 antigen

severity

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

CTD
RGD

PMID:16611307 PMID:22705596

NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443

G

cyclin dependent kinase 4

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

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

NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789

G

cyclin dependent kinase inhibitor 2A

disease_progression

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

CTD
RGD

PMID:16008847 PMID:12681979

NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890

G

cyclin dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:109,518,073...109,523,953
Ensembl chr 4:109,518,073...109,524,386

G

complement factor H-related 1

treatment

RGD

NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

RGD

NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919

G

cereblon

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

NCBI chr 6:106,755,205...106,777,060
Ensembl chr 6:106,757,162...106,777,038

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861

G

colony stimulating factor 2 (granulocyte-macrophage)

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493

G

colony stimulating factor 3 (granulocyte)

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

RGD

NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573

G

cytochrome P450, family 1, subfamily a, polypeptide 1

susceptibility

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

RGD

NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107

G

cytochrome P450, family 2, subfamily c, polypeptide 38

no_association
treatment

DNA:polymorphisms: :

PMID:17666363 PMID:20684753

RGD:11352748 RGD:11352804

NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519

G

cytochrome P450, family 2, subfamily c, polypeptide 66

treatment
no_association

DNA:polymorphisms: :

RGD

PMID:17666363 PMID:20684753

RGD:11352748, RGD:11352804

NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516

G

cytochrome P450, family 2, subfamily d, polypeptide 22

no_association

DNA:polymorphisms: :

RGD

NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461

G

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

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206

G

DNA methyltransferase 3A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443

G

desmoglein 2

disease_progression

RGD

NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578

G

eukaryotic translation initiation factor 1A, X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:158,155,174...158,172,617
Ensembl chr X:158,155,174...158,172,924

G

endoglin

severity

protein:increased expression:serum:

RGD

NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681

G

epoxide hydrolase 1, microsomal

no_association
susceptibility

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

CTD
RGD

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

RGD:11252116, RGD:11252121, RGD:11252122

NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469

G

excision repair cross-complementing rodent repair deficiency, complementation group 1

treatment

DNA:SNP: :rs735482 (human)

RGD

NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449

G

excision repair cross-complementing rodent repair deficiency, complementation group 2

disease_progression
sexual_dimorphism

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

RGD

PMID:22183071 PMID:17131345

RGD:11252199, RGD:401827277

NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619

G

Ets2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186

G

Fas ligand

disease_progression

RGD

NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294

G

Fc receptor, IgG, low affinity III

disease_progression
susceptibility

DNA:polymorphism: :rs1801274(human)

RGD

PMID:25850245 PMID:17315188

RGD:11040778, RGD:11040938

NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504

G

fibroblast growth factor receptor 3

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

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

NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412

G

fibrinogen gamma chain

treatment

RGD

NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356

G

FMS-like tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299

G

FMS-like tyrosine kinase 3 ligand

disease_progression

protein:increased expression:serum:

RGD

NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

RGD

NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067

G

glutathione peroxidase 1

RGD

NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

RGD

NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203

G

glutathione S-transferase, mu 1

severity
no_association

RGD

PMID:17653713 PMID:15136237

RGD:10450826, RGD:10450846

NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289

G

glutathione S-transferase, pi 1

disease_progression
no_association
treatment

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

RGD

PMID:23953887 PMID:18061666 PMID:17512053

RGD:10755413, RGD:10755419, RGD:11075094

NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985

G

glutathione S-transferase, theta 1

susceptibility
no_association

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16949155 PMID:15136237 PMID:12624497

RGD:10450846, RGD:10450847

NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418

G

H19, imprinted maternally expressed transcript

severity

RNA:decrased expression:blood serum (human)

RGD

NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,133,957

G

H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:23,805,760...23,806,541
Ensembl chr13:23,804,612...23,806,541

G

histocompatibility 2, Q region locus 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075

G

H2A clustered histone 8

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:23,754,837...23,755,394
Ensembl chr13:23,754,691...23,755,394

G

H3 clustered histone 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:23,945,868...23,946,369
Ensembl chr13:23,945,836...23,946,369

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421

G

homeostatic iron regulator

susceptibility

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

RGD

NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837

G

hexokinase 1

RGD

NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687

G

Harvey rat sarcoma virus oncogene

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 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918

G

heat shock protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

RGD

PMID:7834632 PMID:7686390

RGD:11354981, RGD:11520780

NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113

G

interferon alpha 2

CTD Direct Evidence: therapeutic

PMID:3597002 PMID:8833401 PMID:9234591

NCBI chr 4:88,601,444...88,602,016
Ensembl chr 4:88,601,118...88,602,149

G

insulin-like growth factor 2 receptor

protein:increased expression:serum,urine:

RGD

NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551

G

interleukin 10

disease_progression

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

RGD

PMID:11307152 PMID:11022130

RGD:11041888, RGD:11049458

NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711

G

interleukin 1 alpha

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

RGD

PMID:25469832 PMID:17926179 PMID:1777241

RGD:11049156, RGD:11051973, RGD:11059513

NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892

G

interleukin 1 beta

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

RGD

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

interleukin 1 receptor antagonist

no_association

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

RGD

PMID:17926179 PMID:10848780

RGD:11051973, RGD:11522764

NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506

G

interleukin 4 receptor, alpha

susceptibility

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

RGD

NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262

G

interferon regulatory factor 4

disease_progression
treatment

DNA:translocation
CTD Direct Evidence: marker/mechanism

CTD
RGD

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

RGD:11526161, RGD:11530019, RGD:11530055

NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959

G

interferon regulatory factor 8

DNA:hypermethylation

RGD

NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:151,015,698...151,062,098
Ensembl chr X:151,016,016...151,057,531

G

lysine (K)-specific methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781

G

lysine (K)-specific methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085

G

Kirsten rat sarcoma viral oncogene homolog

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

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

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

G

large tumor suppressor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:7,556,964...7,592,225
Ensembl chr10:7,556,978...7,592,224

G

ligase IV, DNA, ATP-dependent

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

OMIM
CTD
ClinVar
RGD

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

NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686

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 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968

G

MAF bZIP transcription factor

OMIM:254500

NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533

G

myeloid cell leukemia sequence 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:95,564,017...95,583,553
Ensembl chr 3:95,566,099...95,570,487

G

Mediterranean fever

susceptibility

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

RGD

NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961

G

met proto-oncogene

RGD

NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979

G

methyltransferase 14, N6-adenosine-methyltransferase subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 3:123,161,944...123,179,639
Ensembl chr 3:123,161,946...123,179,757

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr14:52,532,298...52,548,555
Ensembl chr14:52,532,298...52,542,585

G

MAX gene associated

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:119,702,974...119,800,610
Ensembl chr 2:119,727,709...119,800,062

G

microRNA 155

disease_progression

miRNA:decreased expression:serum

RGD

PMID:25497370 PMID:28446295

RGD:21079441, RGD:24922226

NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092

G

microRNA 17

disease_progression

miRNA:increased expression:plasma cell

RGD

NCBI chr14:115,281,103...115,281,186
Ensembl chr14:115,281,103...115,281,186

G

microRNA 19a

CTD Direct Evidence: marker/mechanism

NCBI chr14:115,281,432...115,281,513
Ensembl chr14:115,281,432...115,281,513

G

microRNA 27a

CTD Direct Evidence: marker/mechanism

NCBI chr 8:84,935,301...84,935,387
Ensembl chr 8:84,935,301...84,935,387

G

microRNA 320

ameliorates

human gene in mouse model

RGD

NCBI chr14:70,680,950...70,681,031
Ensembl chr14:70,680,950...70,681,031

G

microRNA 92-1

CTD Direct Evidence: marker/mechanism

NCBI chr14:115,281,859...115,281,938
Ensembl chr14:115,281,859...115,281,938

G

macrophage stimulating 1 receptor (c-met-related tyrosine kinase)

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:107,784,057...107,797,582
Ensembl chr 9:107,784,072...107,797,582

G

methylenetetrahydrofolate reductase

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

RGD

NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

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

RGD

NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

RGD

NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268

G

mucin 1, transmembrane

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688

G

nuclear receptor co-repressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:125,094,217...125,256,302
Ensembl chr 5:125,094,217...125,256,283

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

G

nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha

RGD

PMID:16540234 PMID:12377412

RGD:2298898, RGD:2298895

NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693

G

non-POU-domain-containing, octamer binding protein

exacerbates

mRNA:increased expression: (human)

RGD

NCBI chr X:100,473,295...100,492,193
Ensembl chr X:100,472,924...100,492,197

G

notch 2

protein:increased expression:bone marrow (human)

RGD

NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677

G

NADPH oxidase 1

protein:increased expression:serum

RGD

NCBI chr X:132,987,170...133,038,455
Ensembl chr X:132,987,170...133,122,705

G

NAD(P)H dehydrogenase, quinone 1

no_association

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

CTD
RGD

PMID:16949155 PMID:18156703 PMID:18061666

RGD:10769348, RGD:10755419

NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838

G

neuroblastoma ras oncogene

treatment

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

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

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

G

NUAK family, SNF1-like kinase, 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,206,764...84,282,028
Ensembl chr10:84,206,769...84,276,461

G

poly (ADP-ribose) polymerase family, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819

G

platelet factor 4

ameliorates

RGD

NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:71,220,820...71,229,356
Ensembl chr 8:71,220,820...71,229,357

G

promyelocytic leukemia

severity

protein:increased expression:bone marrow (human)

RGD

NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069

G

RNA polymerase I subunit G

sexual_dimorphism

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

RGD

NCBI chr 7:19,089,932...19,093,408
Ensembl chr 7:19,089,939...19,093,408

G

paraoxonase 1

severity
treatment
susceptibility

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

RGD

PMID:25520116 PMID:22348216 PMID:15136237

RGD:11552578, RGD:11040544, RGD:10450846

NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946

G

PRAME like, X-linked 1

severity

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

CTD
RGD

PMID:16179254 PMID:24791872

NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454

G

protein arginine N-methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982

G

psoriasis susceptibility 1 candidate 2 (human)

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,842,462...35,845,544
Ensembl chr17:35,844,098...35,845,544

G

parathyroid hormone-like peptide

CTD Direct Evidence: marker/mechanism

NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681

G

RAN binding protein 2

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

RGD

NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178

G

retinoblastoma binding protein 8, endonuclease

exacerbates

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

RGD

NCBI chr18:11,766,333...11,876,264
Ensembl chr18:11,766,333...11,878,278

G

retinol binding protein 1, cellular

disease_progression

DNA:hypermethylation: :

RGD

NCBI chr 9:98,305,014...98,328,604
Ensembl chr 9:98,305,014...98,328,628

G

RecQ protein-like 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr15:76,587,753...76,594,820
Ensembl chr15:76,587,753...76,594,748

G

roundabout guidance receptor 1

ameliorates

RGD

NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983

G

runt related transcription factor 1

mRNA:splice variant

RGD

NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969

G

SAM domain and HD domain, 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:156,939,454...156,977,016
Ensembl chr 2:156,939,453...156,977,185

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:21,758,083...21,875,802
Ensembl chr10:21,758,083...21,875,802

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709

G

superoxide dismutase 2, mitochondrial

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15908783 PMID:15908783

NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950

G

secreted acidic cysteine rich glycoprotein

disease_progression

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

CTD
RGD

PMID:18172295 PMID:23699600

NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009

G

secreted phosphoprotein 1

RGD

NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916

G

taste receptor, type 2, member 103

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:133,013,126...133,014,064
Ensembl chr 6:133,013,126...133,014,064

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481

G

telomerase reverse transcriptase

RGD

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:83,339,355...83,434,190
Ensembl chr 6:83,339,355...83,436,066

G

transferrin receptor

treatment

RGD

NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612

G

transforming growth factor, beta 1

disease_progression

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

RGD

PMID:23699600 PMID:22560388

RGD:11073605, RGD:11073614

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

G

tumor necrosis factor

treatment
no_association

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

RGD

PMID:12200397 PMID:12815949

RGD:10449450, RGD:10449453

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

tumor necrosis factor receptor superfamily, member 10b

treatment

RGD

NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860

G

tumor necrosis factor receptor superfamily, member 13b

CTD Direct Evidence: marker/mechanism

NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198

G

tumor necrosis factor receptor superfamily, member 17

RGD

NCBI chr16:11,131,131...11,137,938
Ensembl chr16:11,131,676...11,137,938

G

tumor necrosis factor (ligand) superfamily, member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584

G

tRNA nucleotidyl transferase, CCA-adding, 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:106,746,099...106,759,435
Ensembl chr 6:106,746,081...106,759,435

G

transformation related protein 53

disease_progression
treatment

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

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

RGD:11073716, RGD:11073728, RGD:11075073

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

thymidylate synthase

treatment
no_association

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

RGD

PMID:17512053 PMID:17655928

RGD:11075094, RGD:11075095

NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615

G

unc-51-like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263

G

vascular endothelial growth factor A

susceptibility

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

RGD

NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295

G

xanthine dehydrogenase

protein:increased expression:serum

RGD

NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191

G

exportin 5

severity

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

RGD

NCBI chr17:46,513,737...46,554,524
Ensembl chr17:46,513,708...46,554,524

G

X-ray repair complementing defective repair in Chinese hamster cells 3

disease_progression

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

RGD

NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307

G

X-ray repair complementing defective repair in Chinese hamster cells 4

susceptibility

DNA:SNPs:multiple (human)

RGD

NCBI chr13:89,997,033...90,237,727
Ensembl chr13:89,922,146...90,237,727

G

X-ray repair complementing defective repair in Chinese hamster cells 5

susceptibility

DNA:SNP:3'-UTR (human)

RGD

NCBI chr 1:72,346,576...72,434,112
Ensembl chr 1:72,346,586...72,434,111

G

yes-associated protein 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597

G

YTH N6-methyladenosine RNA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:180,546,170...180,562,729
Ensembl chr 2:180,546,170...180,562,742

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:108,758,841...108,786,074
Ensembl chr12:108,758,899...108,786,074

myelodysplastic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase long-chain family member 6

ClinVar Annotator: match by term: ACSL6-related condition

NCBI chr11:54,194,580...54,255,582
Ensembl chr11:54,194,624...54,255,582

G

actin related protein 2/3 complex, subunit 1B

treatment

RGD

NCBI chr 5:145,051,066...145,064,996
Ensembl chr 5:145,051,025...145,067,515

G

ASXL transcriptional regulator 1

treatment
disease_progression

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

OMIM
ClinVar
MouseDO
CTD
RGD

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

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

NCBI chr 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927

G

autophagy related 7

OMIM:614286

NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575

G

ATRX, chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009

G

Brca1 associated protein 1

OMIM:614286

NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901

G

Bcl2-like 10

susceptibility
treatment

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

RGD

PMID:24047476 PMID:21760590

RGD:11058140, RGD:14392809

NCBI chr 9:75,255,040...75,258,922
Ensembl chr 9:75,255,040...75,258,931

G

Bmi1 polycomb ring finger oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440

G

CD40 antigen

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

RGD

NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868

G

cyclin dependent kinase inhibitor 1B

DNA:deletion: :

RGD

NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476

G

cyclin dependent kinase inhibitor 2A

severity

DNA:hypermethylation: :

RGD

NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890

G

cyclin dependent kinase inhibitor 2B

disease_progression
treatment

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

CTD
RGD

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

RGD:11251750, RGD:11252195, RGD:11252169

NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276

G

CASP8 and FADD-like apoptosis regulator

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16105982 PMID:14562111

NCBI chr 1:58,750,353...58,798,043
Ensembl chr 1:58,750,667...58,798,043

G

CREB binding protein

OMIM:614286

NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861

G

colony stimulating factor 3 receptor

disease_progression

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

RGD

PMID:15644419 PMID:12670333

RGD:10450471, RGD:10450504

NCBI chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005

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 chr13:55,678,223...55,684,471
Ensembl chr13:55,678,223...55,684,471

G

DEAD box helicase 42

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

RGD

NCBI chr11:106,107,715...106,139,966
Ensembl chr11:106,107,752...106,139,965

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:109,418,411...109,429,262
Ensembl chr12:109,418,749...109,429,262

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184

G

DNA methyltransferase 3A

disease_progression

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

CTD
RGD

PMID:32431489 PMID:21415852 PMID:22066015

RGD:11041122, RGD:11041124

NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443

G

DNA methyltransferase 3B

CTD Direct Evidence: marker/mechanism

NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650

G

early growth response 1

OMIM:614286

NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037

G

erythropoietin

CTD Direct Evidence: therapeutic

PMID:12670338 PMID:16076383

NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504

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 chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542

G

excision repair cross-complementing rodent repair deficiency, complementation group 2

disease_progression

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

RGD

PMID:25154760 PMID:26482462

RGD:11252197, RGD:11075607

NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619

G

ets variant 6

DNA:deletion: :
DNA:translocation: :

RGD

PMID:9171997 PMID:18476590

RGD:10450601, RGD:10450605

NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

CTD
RGD

PMID:20601954 PMID:22869879 PMID:21125401

RGD:10450880, RGD:10450887

NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275

G

Fas cell surface death receptor

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

RGD

PMID:9557605 PMID:15686130

RGD:11049447, RGD:11049448

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

Fas ligand

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

RGD

PMID:9557605 PMID:15686130

RGD:11049447, RGD:11049448

NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064

G

Fc receptor, IgG, low affinity IV

RGD

NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330

G

FMS-like tyrosine kinase 3

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

NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299

G

GATA binding protein 1

severity
disease_progression

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

CTD
MouseDO
RGD

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

RGD:10450734, RGD:10450753, RGD:10450752

NCBI chr X:7,825,504...7,842,844
Ensembl chr X:7,825,499...7,844,310

G

GATA binding protein 2

severity
susceptibility

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

OMIM
ClinVar
CTD
RGD

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

NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014

G

growth factor independent 1 transcription repressor

mRNA:decreased expression:bone marrow:

RGD

NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902

G

guanine nucleotide binding protein (G protein), beta 1

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

OMIM
ClinVar
CTD

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

NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726

G

glutathione S-transferase, mu 1

susceptibility
treatment

RGD

PMID:16620556 PMID:15595630

RGD:10450800, RGD:10450836

NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289

G

glutathione S-transferase, pi 1

susceptibility

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

RGD

NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985

G

glutathione S-transferase, theta 1

disease_progression
no_association

RGD

PMID:8569364 PMID:23859717 PMID:9164324

RGD:10450772, RGD:10450840, RGD:10450779

NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506

G

homeostatic iron regulator

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

CTD
RGD

PMID:17001480 PMID:12624489

NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837

G

isocitrate dehydrogenase 1 (NADP+), soluble

disease_progression

DNA:mutation: :

RGD

NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659

G

isocitrate dehydrogenase 2 (NADP+), mitochondrial

ClinVar Annotator: match by term: Myelodysplastic syndromes

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

NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140

G

interleukin 1 beta

mRNA:increased expression:bone marrow

RGD

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

interleukin 2 receptor, alpha chain

ClinVar Annotator: match by term: Myelodysplasia

PMID:25741868 PMID:28492532

NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004

G

integrin beta 3

RGD

NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302

G

lysine (K)-specific methyltransferase 2E

RGD

NCBI chr 5:23,638,034...23,709,233
Ensembl chr 5:23,639,439...23,709,233

G

Kirsten rat sarcoma viral oncogene homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,911,038...135,033,112
Ensembl chr 1:134,911,039...135,033,014

G

lymphoblastomic leukemia 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:85,428,051...85,432,876
Ensembl chr 8:85,428,078...85,431,569

G

macroH2A.1 histone

OMIM:614286

NCBI chr13:56,221,435...56,283,439
Ensembl chr13:56,221,432...56,284,174

G

transformed mouse 3T3 cell double minute 2

no_association

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

RGD

NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663

G

Mediterranean fever

susceptibility

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

RGD

NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961

G

tRNA leucine 1, mitochondrial

ClinVar Annotator: match by term: Myelodysplastic syndrome

PMID:14576046 PMID:15870203 PMID:19460299 PMID:20550934 PMID:22781753 More...

NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

RGD

NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268

G

myeloblastosis oncogene-like 2

OMIM:614286

NCBI chr 2:162,896,246...162,926,608
Ensembl chr 2:162,896,607...162,926,608

G

myelocytomatosis oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223

G

nucleophosmin 1

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

MouseDO
ClinVar

PMID:15659725 PMID:20026798 PMID:32581362

NCBI chr11:33,102,498...33,114,143
Ensembl chr11:33,102,287...33,113,206

G

NAD(P)H dehydrogenase, quinone 1

no_association

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

RGD

NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838

G

neuroblastoma ras oncogene

disease_progression

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

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

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

G

phospholipase C, beta 1

severity
treatment

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

CTD
RGD

PMID:19805378 PMID:16820933 PMID:21109771

RGD:11535164, RGD:11535956

NCBI chr 2:134,628,084...135,317,178
Ensembl chr 2:134,627,987...135,317,178

G

prostate transmembrane protein, androgen induced 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:173,066,251...173,118,329
Ensembl chr 2:173,066,251...173,118,326

G

polymerase (DNA directed), gamma

OMIM:614286

NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110

G

PRAME like, X-linked 1

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

RGD

NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454

G

Rap1 GTPase-activating protein

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

RGD

NCBI chr 4:137,391,549...137,457,172
Ensembl chr 4:137,392,037...137,457,172

G

runt related transcription factor 1

disease_progression

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

ClinVar
CTD
RGD

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

NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037

G

sterile alpha motif domain containing 9-like

OMIM:614286

NCBI chr 6:3,372,257...3,399,458
Ensembl chr 6:3,372,257...3,399,572

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
CTD Direct Evidence: marker/mechanism
OMIM:614286

OMIM
ClinVar
CTD
MouseDO

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

NCBI chr 1:55,024,328...55,066,660
Ensembl chr 1:55,024,328...55,066,640

G

solute carrier family 22 (organic cation transporter), member 5

mRNA:decreased expression:PBMCs (human)

RGD

NCBI chr11:53,755,368...53,782,609
Ensembl chr11:53,755,368...53,782,486

G

sphingomyelin phosphodiesterase 3, neutral

CTD Direct Evidence: marker/mechanism

NCBI chr 8:106,979,180...107,064,597
Ensembl chr 8:106,979,180...107,064,620

G

sphingosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:116,421,662...116,427,502
Ensembl chr11:116,421,751...116,427,501

G

serine and arginine-rich splicing factor 11

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

RGD

NCBI chr 3:157,716,552...157,742,304
Ensembl chr 3:157,716,110...157,742,276

G

serine and arginine-rich splicing factor 2

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

NCBI chr11:116,740,723...116,744,511
Ensembl chr11:116,740,727...116,743,920

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

NCBI chr X:41,238,172...41,366,063
Ensembl chr X:41,238,194...41,366,062

G

telomerase reverse transcriptase

severity

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

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

RGD:11038659, RGD:11038661

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

G

tet methylcytosine dioxygenase 2

severity

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

OMIM
ClinVar
CTD
RGD

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

RGD:10450876, RGD:11038679

NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900

G

toll-like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074

G

tumor necrosis factor

disease_progression

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

RGD

PMID:15888251 PMID:10697556

RGD:10450530, RGD:10450881

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

transformation related protein 53

disease_progression
treatment
no_association

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

CTD
RGD

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

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

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:31,866,055...31,878,122
Ensembl chr17:31,866,055...31,877,866

G

X-ray repair complementing defective repair in Chinese hamster cells 1

no_association

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

RGD

PMID:26482462 PMID:26482462

RGD:11075607, RGD:11075607

NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865

G

zinc finger protein, multitype 2

RGD

NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988

G

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

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

CTD
RGD

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

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

NCBI chr X:162,719,268...162,741,662
Ensembl chr X:162,718,439...162,741,657

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 2:180,299,757...180,351,886
Ensembl chr 2:180,299,757...180,351,792

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20601953 PMID:24218139

NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275

myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

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

RGD

PMID:21712540 PMID:23619563

RGD:11038705, RGD:11038768

NCBI chr 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927

G

autophagy related 2B

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr12:105,579,798...105,651,554
Ensembl chr12:105,582,395...105,651,470

G

bradykinin receptor, beta 1

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687

G

bradykinin receptor, beta 2

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496

G

calreticulin

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

OMIM
ClinVar
CTD
RGD

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

RGD:11352753, RGD:11352747

NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563

G

RIKEN cDNA D430019H16 gene

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr12:105,420,115...105,459,354
Ensembl chr12:105,420,115...105,459,354

G

excision repair cross-complementing rodent repair deficiency, complementation group 1

RGD

NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449

G

excision repair cross-complementing rodent repair deficiency, complementation group 2

no_association

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

RGD

NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

CTD
RGD

PMID:20601953 PMID:21921040

NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275

G

FMS-like tyrosine kinase 3

mRNA,protein:increased expression:multiple:

RGD

NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299

G

FMS-like tyrosine kinase 3 ligand

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

RGD

NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856

G

GATA binding protein 1

OMIM:254450

NCBI chr X:7,825,504...7,842,844
Ensembl chr X:7,825,499...7,844,310

G

GSK3B interacting protein

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr12:105,651,611...105,669,317
Ensembl chr12:105,651,088...105,669,282

G

homeostatic iron regulator

no_association
susceptibility

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

RGD

PMID:19258483 PMID:19258483

RGD:10755491, RGD:10755491

NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837

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 chr19:29,298,754...29,302,718
Ensembl chr19:29,298,744...29,302,756

G

Janus kinase 2

treatment

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

ClinVar
MouseDO
CTD
OMIM
RGD

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

RGD:1627655, RGD:10449377

NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480

G

lysine (K)-specific methyltransferase 2A

exacerbates

DNA:mutations:multiple (human)

RGD

NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594

G

myeloproliferative leukemia virus oncogene

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

OMIM
ClinVar
CTD
RGD

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

NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710

G

myeloblastosis oncogene

OMIM:254450

NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883

G

nuclear receptor co-repressor 2

OMIM:254450

NCBI chr 5:125,094,217...125,256,302
Ensembl chr 5:125,094,217...125,256,283

G

SH2B adaptor protein 3

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

OMIM
ClinVar
CTD

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

NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709

G

Rous sarcoma oncogene

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:25741868 PMID:26936507 PMID:32581362

NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782

G

T cell lymphoma breakpoint 1

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr12:105,183,012...105,188,996
Ensembl chr12:105,183,009...105,189,052

G

transforming growth factor, beta 1

treatment

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

RGD

PMID:23462118 PMID:23462118 PMID:23462118

RGD:11073609, RGD:11073609, RGD:11073609

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

G

transformation related protein 53

disease_progression

associated with Myelodysplastic Syndromes;

RGD

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

Tcl1 upstream neural differentiation associated RNA

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr12:105,303,087...105,350,191
Ensembl chr12:105,300,129...105,350,191

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

rabenosyn, RAB effector

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

NCBI chr 6:92,163,693...92,191,874
Ensembl chr 6:92,163,693...92,191,906

Myeloid Leukemia, Accelerated Phase

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bmi1 polycomb ring finger oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440

G

microRNA 150

miRNA:decreased expression:leukocytes

NCBI chr 7:44,771,181...44,771,245
Ensembl chr 7:44,771,181...44,771,245

Myeloid Leukemia, Chronic-Phase

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

c-abl oncogene 1, non-receptor tyrosine kinase

disease_progression

DNA:hypermethylation:promoter

RGD

PMID:19344397 PMID:11559572

RGD:11038809, RGD:11038811

NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239

G

BCR activator of RhoGEF and GTPase

disease_progression

RGD

NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753

G

cytochrome P450, family 3, subfamily a, polypeptide 13

treatment

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

RGD

NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881

G

excision repair cross-complementing rodent repair deficiency, complementation group 1

treatment

DNA:SNP: :rs11615 (human)

RGD

NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449

G

growth factor independent 1 transcription repressor

disease_progression

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

RGD

PMID:19887785 PMID:23411466

RGD:11040457, RGD:11040461

NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902

G

growth factor independent 1B

mRNA:increased expression:blood:

RGD

NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994

myeloid neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 1, member C18

RGD

NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653

G

autophagy related 2B

CTD Direct Evidence: marker/mechanism

NCBI chr12:105,579,798...105,651,554
Ensembl chr12:105,582,395...105,651,470

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753

G

calreticulin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563

G

Casitas B-lineage lymphoma

disease_progression

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

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

RGD:11038798, RGD:11038808, RGD:11038804

NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346

G

CD36 molecule

protein:increased expression:platelet, plasma membrane

RGD

NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799

G

DNA methyltransferase 3A

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443

G

early growth response 1

RGD

NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037

G

ets variant 6

DNA:translocation: :

RGD

NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

RGD

NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275

G

coagulation factor III, tissue factor

treatment

RGD

NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697

G

fibroblast growth factor receptor 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

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

RGD:11352309, RGD:11352667

NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734

G

FGFR1 oncogene partner 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:146,479,401...146,500,696
Ensembl chr 6:146,478,701...146,500,696

G

FMS-like tyrosine kinase 3

RGD

NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299

G

growth factor independent 1 transcription repressor

RGD

NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902

G

growth factor independent 1B

mRNA:increased expression:blood:

RGD

NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994

G

glutathione peroxidase 1

DNA:polymorphism: :p.P198L (human)

RGD

NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542

G

GSK3B interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr12:105,651,611...105,669,317
Ensembl chr12:105,651,088...105,669,282

G

heat shock protein 5

RGD

NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559

G

insulin-like growth factor I receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416

G

insulin-like 6

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chr19:29,298,754...29,302,718
Ensembl chr19:29,298,744...29,302,756

G

interferon regulatory factor 4

RGD

NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959

G

interferon regulatory factor 8

RGD

NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433

G

Janus kinase 2

severity
no_association

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

ClinVar
CTD
RGD

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

RGD:10449376, RGD:10449393, RGD:10449376

NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480

G

Kirsten rat sarcoma viral oncogene homolog

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

RGD

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

G

MDS1 and EVI1 complex locus

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

CTD
RGD

PMID:29047144 PMID:9044825

NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157

G

myeloproliferative leukemia virus oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710

G

methylenetetrahydrofolate reductase

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

RGD

NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008

G

nucleophosmin 1

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

RGD

NCBI chr11:33,102,498...33,114,143
Ensembl chr11:33,102,287...33,113,206

G

NAD(P)H dehydrogenase, quinone 1

RGD

NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838

G

N-ribosyldihydronicotinamide quinone reductase 2

RGD

NCBI chr13:34,148,642...34,172,448
Ensembl chr13:34,148,670...34,172,426

G

neuroblastoma ras oncogene

disease_progression

RGD

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

G

runt related transcription factor 1

RGD

NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

G

transformation related protein 53

CTD Direct Evidence: marker/mechanism

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

zinc finger, MYM-type 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:57,123,986...57,199,815
Ensembl chr14:57,124,110...57,200,158

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 polypeptide

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

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

NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133

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 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927

G

colony stimulating factor 3 receptor

RGD

NCBI chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233

G

cut-like homeobox 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm

NCBI chr 5:136,276,989...136,596,429
Ensembl chr 5:136,276,989...136,596,344

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 chr13:55,678,223...55,684,471
Ensembl chr13:55,678,223...55,684,471

G

ets variant 6

DNA:translocation: :

RGD

NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121

G

inositol 1,4,5-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:35101336

NCBI chr 1:180,156,655...180,252,367
Ensembl chr 1:180,158,050...180,252,367

G

Janus kinase 2

NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480

G

neurofibromin 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

G

notch 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

G

platelet derived growth factor receptor, alpha polypeptide

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876

G

platelet derived growth factor receptor, beta polypeptide

DNA:translocation: :

NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

G

transcription factor 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481

G

tet methylcytosine dioxygenase 2

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

RGD

NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900

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 chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823

G

pseudouridine synthase 1

OMIM:500011 | OMIM:600462 | OMIM:613561
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
CTD Direct Evidence: marker/mechanism

MouseDO
ClinVar
CTD

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

NCBI chr 5:110,921,533...110,928,523
Ensembl chr 5:110,921,533...110,928,525

G

tyrosyl-tRNA synthetase 2 (mitochondrial)

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

PMID:25741868 PMID:28492532

NCBI chr16:16,120,829...16,127,504
Ensembl chr16:16,120,829...16,127,504

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 chr 5:110,921,533...110,928,523
Ensembl chr 5:110,921,533...110,928,525

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 chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823

G

tyrosyl-tRNA synthetase 2 (mitochondrial)

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 chr16:16,120,829...16,127,504
Ensembl chr16:16,120,829...16,127,504

myopathy, lactic acidosis, and sideroblastic anemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP synthase 6, mitochondrial

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

PMID:25037980 PMID:27812026 PMID:29350304

NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607

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

Casitas B-lineage lymphoma

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

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

NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346

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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460

paroxysmal nocturnal hemoglobinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement component 3

protein:increased processing:erythrocyte

RGD

NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136

G

C-X-C motif chemokine receptor 4

treatment

RGD

NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030

G

histocompatibility 2, class II antigen A, alpha

DNA:polymorphism, haplotype

RGD

NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797

G

histocompatibility 2, class II antigen A, beta 1

DNA:polymorphism, haplotype

RGD

NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393

G

hemolytic complement

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

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

NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450

G

phosphatidylinositol glycan anchor biosynthesis, class A

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

ClinVar
CTD
RGD

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

NCBI chr X:163,202,814...163,216,912
Ensembl chr X:163,202,783...163,216,912

G

phosphatidylinositol glycan anchor biosynthesis, class T

CTD Direct Evidence: marker/mechanism

NCBI chr 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221

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:163,202,814...163,216,912
Ensembl chr X:163,202,783...163,216,912

G

phosphatidylinositol glycan anchor biosynthesis, class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chr 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221

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 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 antigen

RGD

NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868

G

telomerase reverse transcriptase

RGD

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

polycythemia vera

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ataxia telangiectasia mutated

ClinVar Annotator: match by term: Polycythemia rubra vera

NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040

G

BCL2-like 1

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

RGD

NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799

G

elastase, neutrophil expressed

protein:increased expression:plasma:

RGD

PMID:18768782 PMID:12186827

RGD:10450556, RGD:10450557

NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049

G

erythropoietin receptor

mRNA:decreased expression:blood cell:

RGD

NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802

G

glutathione reductase

protein:increased activity:erythrocyte:

RGD

NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191

G

glutathione S-transferase, mu 1

susceptibility

RGD

NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289

G

hemoglobin alpha, adult chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:32,233,672...32,234,486
Ensembl chr11:32,233,511...32,234,465

G

hemoglobin, beta adult major chain

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

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

G

homeostatic iron regulator

susceptibility
no_association

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

RGD

PMID:19258483 PMID:19258483

RGD:10755491, RGD:10755491

NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837

G

interferon alpha 2

CTD Direct Evidence: therapeutic

NCBI chr 4:88,601,444...88,602,016
Ensembl chr 4:88,601,118...88,602,149

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 chr19:29,298,754...29,302,718
Ensembl chr19:29,298,744...29,302,756

G

Janus kinase 2

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

ClinVar
MouseDO
CTD
OMIM
RGD

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

NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480

Primary Lymphedema with Myelodysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and BTB domain containing 1

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

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

NCBI chr 6:88,812,896...88,819,334
Ensembl chr 6:88,812,896...88,818,966

G

acyl-Coenzyme A dehydrogenase family, member 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:103,940,923...104,004,855
Ensembl chr 9:103,940,576...104,004,924

G

acyl-Coenzyme A dehydrogenase family, member 9

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

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

NCBI chr 3:36,120,128...36,147,006
Ensembl chr 3:36,120,128...36,147,002

G

atypical chemokine receptor 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:103,974,881...104,003,842
Ensembl chr 9:103,961,356...104,004,132

G

acid phosphatase 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:104,165,439...104,214,921
Ensembl chr 9:104,165,450...104,214,947

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 chr16:34,974,933...35,126,108
Ensembl chr16:34,975,247...35,126,108

G

aldehyde dehydrogenase 1 family, member L1

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

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

NCBI chr 6:90,527,751...90,576,153
Ensembl chr 6:90,463,409...90,577,185

G

angiomotin-like 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:102,594,290...102,610,616
Ensembl chr 9:102,593,871...102,610,617

G

anaphase promoting complex subunit 13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:102,503,495...102,511,443
Ensembl chr 9:102,503,495...102,511,624

G

asteroid homolog 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:105,272,533...105,285,497
Ensembl chr 9:105,272,591...105,289,428

G

ATPase, Ca++-sequestering

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 9:105,288,561...105,398,456
Ensembl chr 9:105,280,738...105,404,518

G

cDNA sequence BC048671

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

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

NCBI chr 6:90,278,201...90,282,430
Ensembl chr 6:90,278,201...90,282,431

G

beaded filament structural protein 2, phakinin

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:103,302,123...103,357,608
Ensembl chr 9:103,302,123...103,357,619

G

calcium-sensing receptor

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503

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 chr16:34,510,940...34,545,574
Ensembl chr16:34,510,986...34,545,572

G

CD86 antigen

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443

G

carnitine deficiency-associated gene expressed in ventricle 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:103,230,301...103,243,034
Ensembl chr 9:103,230,293...103,243,039

G

centrosomal protein 63

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:102,461,784...102,503,748
Ensembl chr 9:102,461,787...102,503,733

G

cilia and flagella associated protein 100

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

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

NCBI chr 6:90,380,713...90,412,379
Ensembl chr 6:90,380,461...90,405,779

G

cilia and flagella associated protein 92

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:87,652,572...87,709,717
Ensembl chr 6:87,652,572...87,699,783

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 chr 6:89,360,128...89,572,634
Ensembl chr 6:89,360,128...89,572,634

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 chr 6:90,285,333...90,302,167
Ensembl chr 6:90,285,331...90,302,167

G

cellular nucleic acid binding protein

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:87,819,597...87,828,088
Ensembl chr 6:87,819,597...87,828,088

G

collagen, type VI, alpha 5

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 9:105,733,269...105,839,743
Ensembl chr 9:105,733,277...105,837,842

G

collagen, type VI, alpha 6

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 9:105,566,616...105,705,413
Ensembl chr 9:105,565,008...105,705,359

G

coatomer protein complex, subunit gamma 1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:87,864,801...87,890,577
Ensembl chr 6:87,864,796...87,890,577

G

copine IV

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:104,443,900...104,911,747
Ensembl chr 9:104,424,485...104,911,743

G

cystatin A family member 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,041,932...36,077,813
Ensembl chr16:36,041,838...36,077,810

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 chr 6:88,199,250...88,200,238
Ensembl chr 6:88,199,250...88,231,397

G

DnaJ heat shock protein family (Hsp40) member C13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:104,028,796...104,140,807
Ensembl chr 9:104,028,481...104,140,129

G

deltex 3-like, E3 ubiquitin ligase

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,746,885...35,759,397
Ensembl chr16:35,746,881...35,759,521

G

ELL associated factor 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,613,246...36,695,275
Ensembl chr16:36,613,246...36,695,365

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 chr 6:88,234,318...88,423,489
Ensembl chr 6:88,234,316...88,423,521

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 chr 6:115,787,695...115,815,177
Ensembl chr 6:115,787,857...115,815,373

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 chr 6:87,707,577...87,739,410
Ensembl chr 6:87,707,851...87,732,890

G

Eph receptor B1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:101,799,327...102,231,892
Ensembl chr 9:101,799,327...102,231,892

G

family with sequence similarity 162, member A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,864,214...35,891,931
Ensembl chr16:35,864,131...35,891,964

G

F-box protein 40

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,783,823...36,811,321
Ensembl chr16:36,783,822...36,810,829

G

follistatin-like 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:37,597,417...37,656,878
Ensembl chr16:37,597,235...37,656,876

G

GATA binding protein 2

susceptibility

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

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

NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014

G

golgin B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,695,455...36,753,447
Ensembl chr16:36,695,502...36,753,447

G

glycoprotein 9 platelet

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:87,753,115...87,756,768
Ensembl chr 6:87,755,054...87,756,750

G

general transcription factor II E, polypeptide 1 (alpha subunit)

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:37,330,158...37,360,151
Ensembl chr16:37,330,152...37,360,151

G

H1.10 linker histone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:87,957,403...87,958,464
Ensembl chr 6:87,957,403...87,958,619

G

H1.8 linker histone

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

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

NCBI chr 6:115,921,892...115,927,203
Ensembl chr 6:115,921,899...115,927,197

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 chr16:34,842,791...34,929,560
Ensembl chr16:34,842,798...34,929,547

G

hematopoietic cell specific Lyn substrate 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,755,345...36,783,576
Ensembl chr16:36,755,345...36,783,574

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 chr16:33,504,754...33,591,946
Ensembl chr16:33,504,740...33,591,946

G

homogentisate 1, 2-dioxygenase

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:37,400,104...37,452,388
Ensembl chr16:37,400,515...37,452,382

G

5-hydroxymethylcytosine (hmC) binding, ES cell specific

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:87,890,889...87,913,603
Ensembl chr 6:87,890,917...87,913,611

G

Hspb associated protein 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,590,009...35,648,832
Ensembl chr16:35,590,745...35,648,847

G

intraflagellar transport 122

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660

G

interleukin 20 receptor beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:100,339,772...100,368,526
Ensembl chr 9:100,339,772...100,368,841

G

immunoglobulin-like domain containing receptor 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166

G

IQ calmodulin-binding motif containing 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083

G

ISY1 splicing factor homolog

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:87,795,429...87,815,723
Ensembl chr 6:87,791,251...87,815,780

G

integrin 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 chr16:33,650,021...33,769,708
Ensembl chr16:33,650,035...33,769,708

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 chr16:33,789,443...34,393,647
Ensembl chr16:33,789,443...34,393,902

G

kelch repeat and BTB (POZ) domain containing 12

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

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

NCBI chr 6:88,521,931...88,604,636
Ensembl chr 6:88,522,096...88,614,932

G

Kruppel-like transcription factor 15

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

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

NCBI chr 6:90,437,785...90,468,785
Ensembl chr 6:90,439,558...90,452,220

G

karyopherin subunit alpha 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,803,693...35,859,479
Ensembl chr16:35,799,120...35,857,501

G

kyphoscoliosis peptidase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:102,382,954...102,423,443
Ensembl chr 9:102,382,949...102,423,438

G

methyl-CpG binding domain protein 4

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:115,817,658...115,830,361
Ensembl chr 6:115,817,658...115,830,332

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 chr 6:88,860,456...88,875,762
Ensembl chr 6:88,860,456...88,875,762

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 chr 6:88,701,397...88,805,342
Ensembl chr 6:88,701,394...88,805,342

G

mitochondrial matrix import factor 23

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,892,030...35,912,488
Ensembl chr16:35,892,055...35,912,490

G

mitochondrial ribosomal protein L3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:104,930,394...104,954,665
Ensembl chr 9:104,930,438...104,957,087

G

MSL complex subunit 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:100,956,107...100,981,999
Ensembl chr 9:100,956,154...100,981,999

G

mucin 13, epithelial transmembrane

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 chr16:33,614,407...33,640,299
Ensembl chr16:33,614,407...33,640,304

G

myosin, light polypeptide 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 chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790

G

non-catalytic region of tyrosine kinase adaptor protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:100,376,047...100,428,187
Ensembl chr 9:100,374,346...100,428,187

G

NADH:ubiquinone oxidoreductase subunit B4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:37,467,962...37,474,779
Ensembl chr16:37,467,532...37,474,815

G

NIMA (never in mitosis gene a)-related expressed kinase 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:105,039,355...105,272,723
Ensembl chr 9:105,039,355...105,272,723

G

nephronophthisis 3 (adolescent)

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017

G

nudix hydrolase 16

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:105,006,531...105,010,332
Ensembl chr 9:105,006,102...105,009,023

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 chr16:33,005,441...33,063,682
Ensembl chr16:33,005,441...33,063,682

G

poly (ADP-ribose) polymerase family, member 14

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,652,262...35,691,904
Ensembl chr16:35,653,244...35,691,914

G

poly (ADP-ribose) polymerase family, member 9

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,759,360...35,792,975
Ensembl chr16:35,758,840...35,792,975

G

propionyl Coenzyme A carboxylase, beta polypeptide

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:100,864,085...100,916,993
Ensembl chr 9:100,864,085...100,916,951

G

protein disulfide isomerase associated 5

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,217,678...35,311,289
Ensembl chr16:35,217,682...35,311,243

G

phosphoinositide-3-kinase regulatory subunit 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 9:105,520,156...105,564,854
Ensembl chr 9:105,520,177...105,564,856

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 chr 6:89,293,295...89,339,595
Ensembl chr 6:89,293,296...89,339,602

G

plexin D1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:115,931,772...115,972,300
Ensembl chr 6:115,931,772...115,971,966

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 chr 6:88,819,539...88,852,063
Ensembl chr 6:88,819,540...88,852,026

G

polymerase (DNA directed), theta

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,832,104...36,922,321
Ensembl chr16:36,832,148...36,915,779

G

protein phosphatase 2, regulatory subunit B'', alpha

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:100,982,188...101,129,031
Ensembl chr 9:100,982,283...101,128,994

G

RAB43, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:87,765,835...87,789,146
Ensembl chr 6:87,765,835...87,789,146

G

RAB6B, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:102,988,866...103,062,475
Ensembl chr 9:102,988,986...103,062,475

G

RAB7, member RAS oncogene family

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

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

NCBI chr 6:87,976,088...88,022,252
Ensembl chr 6:87,976,088...88,022,252

G

RAB, member RAS oncogene family-like 3

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:37,360,220...37,392,747
Ensembl chr16:37,360,247...37,392,747

G

rhodopsin

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997

G

ropporin, rhophilin associated protein 1

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

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

NCBI chr16:34,470,271...34,498,980
Ensembl chr16:34,470,291...34,498,988

G

ribophorin I

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

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

NCBI chr 6:88,061,455...88,082,286
Ensembl chr 6:88,061,464...88,082,286

G

RuvB-like AAA ATPase 1

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

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

NCBI chr 6:88,442,391...88,474,548
Ensembl chr 6:88,442,391...88,474,554

G

receptor-like tyrosine kinase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:102,712,119...102,785,506
Ensembl chr 9:102,712,116...102,785,504

G

SEC22 homolog A, vesicle trafficking protein

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,131,505...35,184,222
Ensembl chr16:35,131,501...35,184,288

G

SEC61 translocon subunit alpha 1

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

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

NCBI chr 6:88,480,589...88,495,782
Ensembl chr 6:88,480,561...88,495,887

G

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,361,517...35,485,103
Ensembl chr16:35,361,515...35,485,102

G

solute carrier family 12 (potassium/chloride transporters), 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 chr16:33,337,440...33,484,508
Ensembl chr16:33,337,698...33,484,505

G

solute carrier family 15 (H+/peptide transporter), member 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,570,523...36,605,506
Ensembl chr16:36,570,539...36,605,324

G

solute carrier family 35, member G2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:100,431,178...100,453,138
Ensembl chr 9:100,434,241...100,453,143

G

solute carrier family 41, member 3

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:90,579,043...90,623,394
Ensembl chr 6:90,581,707...90,623,394

G

solute carrier family 49 member 4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,514,432...35,589,740
Ensembl chr16:35,514,432...35,589,726

G

solute carrier organic anion transporter family, member 2a1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:102,885,686...102,973,201
Ensembl chr 9:102,865,911...102,973,201

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 chr16:33,071,826...33,119,932
Ensembl chr16:33,071,812...33,120,639

G

spermatogenesis associated glutamate (E)-rich protein 4f2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 5:17,578,184...17,582,990
Ensembl chr 5:17,578,178...17,583,026

G

signal recognition particle receptor, B subunit

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:103,065,232...103,079,264
Ensembl chr 9:103,065,231...103,079,336

G

STAG1 cohesin complex component

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:100,479,762...100,840,597
Ensembl chr 9:100,479,851...100,841,428

G

syntaxin binding protein 5-like

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:36,927,437...37,205,377
Ensembl chr16:36,935,304...37,205,324

G

transmembrane and coiled coil domains 1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:115,995,572...116,170,485
Ensembl chr 6:115,995,572...116,170,447

G

transmembrane protein 108

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:103,360,135...103,639,099
Ensembl chr 9:103,360,146...103,639,036

G

topoisomerase (DNA) II binding protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:103,182,351...103,227,627
Ensembl chr 9:103,182,414...103,227,627

G

transmembrane protein, adipocyte asscociated 1

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

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

NCBI chr 6:88,879,238...88,889,216
Ensembl chr 6:88,879,233...88,889,220

G

transferrin

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643

G

thyrotropin releasing hormone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 6:92,219,042...92,221,631
Ensembl chr 6:92,219,042...92,221,631

G

thioredoxin reductase 3

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

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

NCBI chr 6:89,620,970...89,652,511
Ensembl chr 6:89,620,970...89,652,511

G

ubiquitin-like modifier activating enzyme 5

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 9:103,923,786...103,940,767
Ensembl chr 9:103,923,798...103,940,333

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 chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408

G

urocanase 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

NCBI chr 6:90,310,221...90,341,533
Ensembl chr 6:90,310,266...90,341,533

G

WD repeat domain 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr16:35,861,560...35,863,344
Ensembl chr16:35,861,560...35,864,298

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 chr16:33,201,145...33,324,273
Ensembl chr16:33,201,206...33,324,733

G

ZXD family zinc finger C

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

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

NCBI chr 6:90,346,460...90,380,472
Ensembl chr 6:90,346,474...90,380,472

Refractory Anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 5

RGD

NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569

G

FMS-like tyrosine kinase 3 ligand

protein:increased expression:serum:

RGD

NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856

G

homeostatic iron regulator

no_association

associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)
associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)

RGD

PMID:17654685 PMID:17654685

RGD:10755539, RGD:10755539

NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837

G

transcobalamin 2

protein:increased expression::

RGD

NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159

G

telomerase reverse transcriptase

RGD

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

Y box protein 1

NCBI chr 4:119,134,524...119,153,462
Ensembl chr 4:119,135,178...119,151,801

Refractory Anemia with Excess of Blasts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 5

RGD

NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569

G

complement component 3

disease_progression

RGD

NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136

G

complement factor B

disease_progression

RGD

NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494

G

telomerase reverse transcriptase

RGD

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

G

tet methylcytosine dioxygenase 2

disease_progression

RGD

NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900

sideroblastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family B member 7

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16892088 PMID:18637800 PMID:18398482

NCBI chr X:103,324,171...103,457,452
Ensembl chr X:103,324,263...103,457,462

G

aminolevulinate, delta-, dehydratase

protein:decreased activity:kidney, liver, spleen

RGD

NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155

G

aminolevulinic acid synthase 2, erythroid

susceptibility

DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16716198 PMID:16892088 PMID:7949148

NCBI chr X:149,330,443...149,353,614
Ensembl chr X:149,330,371...149,353,634

G

calreticulin

DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)

RGD

NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:104,998,877...105,007,170
Ensembl chr12:104,998,947...105,009,165

G

heat shock protein 9

CTD Direct Evidence: marker/mechanism

NCBI chr18:35,070,467...35,087,404
Ensembl chr18:35,070,467...35,087,410

G

cytochrome c oxidase I, mitochondrial

ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia

PMID:9389715 PMID:32906214

NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872

G

pseudouridine synthase 1

ClinVar Annotator: match by term: Sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr 5:110,921,533...110,928,523
Ensembl chr 5:110,921,533...110,928,525

G

solute carrier family 25, member 38

CTD Direct Evidence: marker/mechanism

NCBI chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570

G

superoxide dismutase 2, mitochondrial

CTD Direct Evidence: marker/mechanism

PMID:16910769 PMID:21326867

NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950

G

transferrin receptor

mRNA,protein:increased expression:erythroblast:

RGD

NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612

sideroblastic anemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminolevulinic acid synthase 2, erythroid

onset

ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)

OMIM
ClinVar
CTD
RGD

PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More...

RGD:11035244, RGD:11035243, RGD:11035241

NCBI chr X:149,330,443...149,353,614
Ensembl chr X:149,330,371...149,353,634

G

apurinic/apyrimidinic endonuclease 2

ClinVar Annotator: match by term: Anemia, sideroblastic, 1

NCBI chr X:149,286,625...149,371,175
Ensembl chr X:149,302,515...149,372,864

G

solute carrier family 25, member 38

ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570

sideroblastic anemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HscB iron-sulfur cluster co-chaperone

ClinVar Annotator: match by term: Anemia, sideroblastic, 5

PMID:25741868 PMID:32634119

NCBI chr 5:110,976,945...110,987,647
Ensembl chr 5:110,976,936...110,987,643

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, CCA-adding, 1

ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

PMID:2649490 PMID:3333257 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr 6:106,746,099...106,759,435
Ensembl chr 6:106,746,081...106,759,435

splenic marginal zone lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79B antigen

protein:decreased expression:blood, B cell (human)

RGD

NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588

Thrombocythemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myeloproliferative leukemia virus oncogene

ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic

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

NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710

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 chr19:29,298,754...29,302,718
Ensembl chr19:29,298,744...29,302,756

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 chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480

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 chr17:35,281,669...35,285,761
Ensembl chr17:35,281,669...35,285,160

thrombocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calreticulin

human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563

G

carboxypeptidase B2

RGD

NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995

G

erythropoietin receptor

RGD

NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802

G

interleukin 1 beta

RGD

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

Janus kinase 2

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

CTD
RGD

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

RGD:1627655, RGD:15039391, RGD:10449375

NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480

G

myeloproliferative leukemia virus oncogene

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

CTD
RGD

PMID:15813844 PMID:16484586 PMID:19036112

NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710

G

protocadherin alpha 1

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr18:37,063,338...37,320,710
Ensembl chr18:37,063,237...37,320,714

G

protocadherin alpha 2

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr18:37,072,258...37,320,714
Ensembl chr18:37,072,258...37,320,710

G

protocadherin alpha 3

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr18:37,079,141...37,320,716
Ensembl chr18:37,079,158...37,320,710

G

protocadherin alpha 4

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr18:37,085,742...37,320,710
Ensembl chr18:37,085,701...37,320,714

G

protocadherin alpha 5

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr18:37,093,329...37,320,716
Ensembl chr18:37,093,493...37,320,710

G

protocadherin alpha 6

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr18:37,100,678...37,321,950
Ensembl chr18:37,100,684...37,320,710

G

protocadherin alpha 7

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr18:37,106,864...37,320,716
Ensembl chr18:37,106,855...37,320,710

G

protocadherin alpha 8

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr18:37,125,520...37,320,710
Ensembl chr18:37,125,424...37,320,710

G

protocadherin alpha 9

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr18:37,130,933...37,320,710
Ensembl chr18:37,130,933...37,320,710

G

SH2B adaptor protein 3

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

NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709

G

thrombopoietin

susceptibility

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

CTD
RGD

PMID:15813844 PMID:33122006 PMID:9694695

NCBI chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261

Thrombocytosis, Benign Familial Microcytic

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myeloproliferative leukemia virus oncogene

ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:16199547 More...

NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710

transient myeloproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

ClinVar Annotator: match by term: TRANSIENT ABNORMAL MYELOPOIESIS | ClinVar Annotator: match by term: Transient myeloproliferative syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:24056718 PMID:25741868 PMID:27993330 PMID:28492532 PMID:14636651

NCBI chr X:7,825,504...7,842,844
Ensembl chr X:7,825,499...7,844,310

G

runt related transcription factor 1

ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome

PMID:10068652 PMID:12200707 PMID:15156185 PMID:23817177 PMID:28492532

NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037

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, sub-family B member 7

susceptibility

DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human)

ClinVar
CTD
OMIM
RGD

PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More...

RGD:1598600, RGD:11038735, RGD:11038734

NCBI chr X:103,324,171...103,457,452
Ensembl chr X:103,324,263...103,457,462

G

aminolevulinic acid synthase 2, erythroid

ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia

NCBI chr X:149,330,443...149,353,614
Ensembl chr X:149,330,371...149,353,634

Term paths to the root

Path 1
Term	Annotations
disease	16268
disease of anatomical entity	15860
hematopoietic system disease	3787
bone marrow disease	829
Bone Marrow Neoplasms	493
bone marrow cancer +	493
Path 2
Term	Annotations
disease	16268
disease of anatomical entity	15860
Hemic and Lymphatic Diseases	4274
hematopoietic system disease	3787
Hematologic Neoplasms	1061
Bone Marrow Neoplasms	493
bone marrow cancer +	493

paths to the root