Bone Marrow Neoplasms - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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

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Rat (515) Mouse (591) Human (13579) Chinchilla (440) Bonobo (476) Dog (473) Squirrel (436) Pig (464) Green Monkey (461) Naked Mole-rat (436) All
Genes (436)

Bone Marrow Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487

G

tumor protein p53

disease_progression

NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425

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 chrNW_004936597:1,787,830...1,793,352
Ensembl chrNW_004936597:1,787,537...1,793,866

G

fms related receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936472:23,169,967...23,239,178
Ensembl chrNW_004936472:23,170,470...23,256,904

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:bone marrow cell:

NCBI chrNW_004936487:19,414,135...19,417,465
Ensembl chrNW_004936487:19,414,135...19,417,465

G

homeobox B9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936490:12,761,668...12,765,658
Ensembl chrNW_004936490:12,761,522...12,766,657

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936542:3,480,071...3,566,823
Ensembl chrNW_004936542:3,391,774...3,562,147

G

nucleophosmin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936609:3,712,628...3,725,635

G

nucleoporin 98 and 96 precursor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936498:1,112,724...1,219,790
Ensembl chrNW_004936498:1,112,663...1,220,634

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425

alpha-thalassemia myelodysplasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX chromatin remodeler

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

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

NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620

AMED syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldehyde dehydrogenase 2 family member

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

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

NCBI chrNW_004936558:4,362,693...4,387,705
Ensembl chrNW_004936558:4,362,654...4,390,414

atypical chronic myeloid leukemia, BCR-ABL1 negative

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

ASXL transcriptional regulator 1

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

NCBI chrNW_004936485:19,218,494...19,297,188
Ensembl chrNW_004936485:19,227,400...19,298,912

G

fibroblast growth factor receptor 1

NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508

G

major facilitator superfamily domain containing 11

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

NCBI chrNW_004936594:1,778,930...1,805,945
Ensembl chrNW_004936594:1,778,615...1,807,819

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936517:1,616,169...1,798,002
Ensembl chrNW_004936517:1,616,169...1,970,398

G

serine and arginine rich splicing factor 2

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

NCBI chrNW_004936594:1,775,412...1,778,389
Ensembl chrNW_004936594:1,777,376...1,778,164

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 chrNW_004936752:440,137...577,339
Ensembl chrNW_004936752:440,136...577,615

autosomal dominant sideroblastic anemia 4

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heat shock protein family A (Hsp70) member 9

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

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

NCBI chrNW_004936531:7,702,186...7,716,428
Ensembl chrNW_004936531:7,702,695...7,716,380

autosomal recessive pyridoxine-refractory sideroblastic anemia 2

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

solute carrier family 25 member 38

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

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

NCBI chrNW_004936473:28,602,920...28,621,024
Ensembl chrNW_004936473:28,603,445...28,621,355

Autosomal Sideroblastic Anemia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

arylsulfatase A

ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia

NCBI chrNW_004936629:187,281...205,493
Ensembl chrNW_004936629:187,275...191,008

Blast Crisis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

activation induced cytidine deaminase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936619:288,377...432,297
Ensembl chrNW_004936619:288,340...432,315

G

estrogen receptor 2

NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357

G

heme oxygenase 1

NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311

G

transcobalamin 2

protein:increased expression::

NCBI chrNW_004936904:97,535...113,886
Ensembl chrNW_004936904:95,542...113,985

Bone Marrow Failure Syndrome 1

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

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 chrNW_004936482:18,687,088...18,721,734
Ensembl chrNW_004936482:18,687,046...18,721,757

chronic myelogenous leukemia, BCR-ABL1 positive

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

ABL proto-oncogene 1, non-receptor tyrosine kinase

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

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

NCBI chrNW_004936487:17,690,206...17,819,619
Ensembl chrNW_004936487:17,690,968...17,819,669

G

BCR activator of RhoGEF and GTPase

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936619:288,377...432,297
Ensembl chrNW_004936619:288,340...432,315

G

IKAROS family zinc finger 1

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

NCBI chrNW_004936686:1,459,582...1,556,478
Ensembl chrNW_004936686:1,462,145...1,556,451

G

KRAS proto-oncogene, GTPase

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

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

NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523

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NRAS proto-oncogene, GTPase

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

NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590

G

splicing factor 3b subunit 1

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

NCBI chrNW_004936506:1,749,591...1,790,860
Ensembl chrNW_004936506:1,749,563...1,791,739

chronic myeloid leukemia

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

treatment
susceptibility

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

PMID:24581936 PMID:26250462

RGD:11081178 RGD:11081180

NCBI chrNW_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427

G

ATP binding cassette subfamily C member 2

treatment

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

NCBI chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

treatment
susceptibility

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

OMIM
ClinVar
RGD

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

RGD:11038807 RGD:11038814 RGD:1598673

NCBI chrNW_004936487:17,690,206...17,819,619
Ensembl chrNW_004936487:17,690,968...17,819,669

G

angiotensinogen

NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261

G

AKT serine/threonine kinase 1

protein:increased phosphorylation:blood

NCBI chrNW_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: therapeutic

PMID:19503090 PMID:19823023

NCBI chrNW_004936554:7,807,914...7,848,691
Ensembl chrNW_004936554:7,808,355...7,867,931

G

BCL2 like 1

NCBI chrNW_004936485:18,654,046...18,707,324

G

BCR activator of RhoGEF and GTPase

treatment
disease_progression
susceptibility

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

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

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

NCBI chrNW_004936619:288,377...432,297
Ensembl chrNW_004936619:288,340...432,315

G

baculoviral IAP repeat containing 5

CTD Direct Evidence: therapeutic

NCBI chrNW_004936594:2,812,165...2,820,618
Ensembl chrNW_004936594:2,812,238...2,820,636

G

basic helix-loop-helix ARNT like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936528:5,167,611...5,239,128
Ensembl chrNW_004936528:5,164,481...5,239,128

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carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936524:3,672,393...3,678,630
Ensembl chrNW_004936524:3,672,541...3,678,433

G

caspase 6

treatment

human cells in mouse model

NCBI chrNW_004936563:912,502...920,025
Ensembl chrNW_004936563:911,304...919,119

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365

G

CD40 molecule

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

NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280

G

cyclin dependent kinase inhibitor 1B

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

NCBI chrNW_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461

G

cysteine and histidine rich domain containing 1

OMIM:608232

NCBI chrNW_004936893:644,977...661,651
Ensembl chrNW_004936893:644,435...663,588

G

CRK like proto-oncogene, adaptor protein

protein:increased phosphorylation:blood

NCBI chrNW_004936619:2,447,686...2,479,589
Ensembl chrNW_004936619:2,447,614...2,479,805

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cryptochrome circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936492:7,929,138...7,994,797
Ensembl chrNW_004936492:7,929,138...7,995,579

G

cryptochrome circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936562:3,133,849...3,168,472
Ensembl chrNW_004936562:3,133,633...3,168,480

G

DNA methyltransferase 1

disease_progression

NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416

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DNA methyltransferase 3 alpha

disease_progression

NCBI chrNW_004936493:6,963,406...7,013,256
Ensembl chrNW_004936493:6,935,386...7,007,610

G

DNA methyltransferase 3 beta

disease_progression

NCBI chrNW_004936485:19,547,836...19,570,716

G

E2F transcription factor 1

mRNA:increased expression:blood

NCBI chrNW_004936561:6,894,827...6,901,058
Ensembl chrNW_004936561:6,896,063...6,900,026

G

ERCC excision repair 2, TFIIH core complex helicase subunit

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

PMID:24955348 PMID:25311495

RGD:11060463 RGD:11252188

NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

NCBI chrNW_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939

G

Fas cell surface death receptor

susceptibility

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

NCBI chrNW_004936735:209,369...234,582

G

Fas ligand

susceptibility

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

NCBI chrNW_004936481:14,789,547...14,795,780

G

Fc fragment of IgG receptor IIa

NCBI chrNW_004937131:15,542...22,099

G

fibroblast growth factor receptor 3

mRNA:increased expression:peripheral blood (human)

NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296

G

GRB2 associated binding protein 2

disease_progression

protein:increased expression:bone marrow

NCBI chrNW_004936498:6,775,170...6,835,680
Ensembl chrNW_004936498:6,778,462...6,835,643

G

glutathione peroxidase 1

no_association

DNA:polymorphism: :p.P198L (human)

NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050

G

hes family bHLH transcription factor 1

rat gene in a mouse model

NCBI chrNW_004936711:640,002...642,580
Ensembl chrNW_004936711:639,905...642,622

G

hyaluronan mediated motility receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936515:570,112...599,400
Ensembl chrNW_004936515:571,139...600,132

G

heme oxygenase 1

NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936487:13,348,465...13,352,717
Ensembl chrNW_004936487:13,348,465...13,352,717

G

interleukin 10

treatment

NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

G

interleukin 1 beta

severity

NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165

G

interleukin 1 receptor antagonist

severity

NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340

G

angiotensin-converting enzyme

NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177

G

cytochrome P450 1A1

treatment

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

NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332

G

mitogen-activated protein kinase 14

CTD Direct Evidence: therapeutic

NCBI chrNW_004936476:23,237,762...23,310,211
Ensembl chrNW_004936476:23,237,277...23,310,232

G

MDM2 proto-oncogene

onset

DNA:SNP:promoter:rs2279744(human)

NCBI chrNW_004936545:6,709,903...6,732,334

G

methylenetetrahydrofolate reductase

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

NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193

G

nicastrin

OMIM:608232

NCBI chrNW_004936740:285,789...301,918
Ensembl chrNW_004936740:285,657...302,111

G

NAD(P)H quinone dehydrogenase 1

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

NCBI chrNW_004936475:19,771,384...19,785,034
Ensembl chrNW_004936475:19,769,488...19,785,311

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:serum (human)

NCBI chrNW_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500

G

period circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936595:1,366,883...1,382,138
Ensembl chrNW_004936595:1,366,875...1,382,170

G

period circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936525:221,601...263,284
Ensembl chrNW_004936525:221,510...263,295

G

period circadian regulator 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936623:2,291,211...2,362,693
Ensembl chrNW_004936623:2,290,614...2,336,634

G

PRAME nuclear receptor transcriptional regulator

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

PMID:17157168 PMID:20838376

NCBI chrNW_004936619:1,748,337...1,751,748

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

NCBI chrNW_004936506:1,749,591...1,790,860
Ensembl chrNW_004936506:1,749,563...1,791,739

G

SH2B adaptor protein 3

OMIM:608232

NCBI chrNW_004936558:4,103,898...4,126,883
Ensembl chrNW_004936558:4,104,534...4,123,869

G

signal-induced proliferation-associated 1

OMIM:608232

NCBI chrNW_004936599:3,813,350...3,825,319
Ensembl chrNW_004936599:3,813,596...3,822,170

G

SMAD family member 4

mRNA:decreased expression:blood

NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123

G

serine and arginine rich splicing factor 1

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

NCBI chrNW_004936490:5,055,258...5,059,118
Ensembl chrNW_004936490:5,055,253...5,059,116

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:15068898 PMID:17157168

NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697

G

transforming growth factor beta 1

protein:increased expression:serum

NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272

G

ubiquitin specific peptidase 15

mRNA, protein:decreased expression:PBMC (human)

NCBI chrNW_004936545:978,318...1,094,729
Ensembl chrNW_004936545:978,280...1,095,659

G

vascular endothelial growth factor A

susceptibility

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

NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chrNW_004936706:752,571...783,746
Ensembl chrNW_004936706:751,108...783,777

chronic myelomonocytic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

DNA:mutations:exon:

NCBI chrNW_004936485:19,218,494...19,297,188
Ensembl chrNW_004936485:19,227,400...19,298,912

G

cyclin dependent kinase inhibitor 2B

DNA:altered methylation:5'UTR:

NCBI chrNW_004936652:3,576,975...3,582,790
Ensembl chrNW_004936652:3,538,986...3,581,159

G

colony stimulating factor 3 receptor

disease_progression

DNA:mutations:multiples:

NCBI chrNW_004936474:18,877,036...18,887,574
Ensembl chrNW_004936474:18,877,375...18,887,530

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

DNA:mutations:multiple (human)

NCBI chrNW_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939

G

lysine demethylase 6A

NCBI chrNW_004936502:10,980,303...11,196,711
Ensembl chrNW_004936502:10,980,118...11,196,163

G

NRAS proto-oncogene, GTPase

onset

NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590

G

tet methylcytosine dioxygenase 2

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

NCBI chrNW_004936752:440,137...577,339
Ensembl chrNW_004936752:440,136...577,615

chronic neutrophilic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

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

PMID:23604229 PMID:24081659

RGD:10450482 RGD:10450483

NCBI chrNW_004936474:18,877,036...18,887,574
Ensembl chrNW_004936474:18,877,375...18,887,530

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 chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:21,863,627...21,877,660
Ensembl chrNW_004936475:21,862,166...21,877,711

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141

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 chrNW_004936604:583,391...641,217
Ensembl chrNW_004936604:584,480...641,183

G

bradykinin receptor B1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chrNW_004936604:551,774...567,014

G

bradykinin receptor B2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chrNW_004936604:548,844...551,031
Ensembl chrNW_004936604:548,847...549,956

G

calreticulin

severity

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

OMIM
ClinVar
RGD

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

NCBI chrNW_004936659:1,994,695...1,999,070
Ensembl chrNW_004936659:1,994,648...1,999,430

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365

G

CD40 ligand

protein:increased expression:serum (human)

NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403

G

chromosome unknown C14orf132 homolog

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chrNW_004936604:386,940...433,477
Ensembl chrNW_004936604:392,060...428,276

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chrNW_004936604:657,602...675,702
Ensembl chrNW_004936604:657,400...675,923

G

Janus kinase 2

severity

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

CTD
MouseDO
RGD

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

NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867

G

neutrophil elastase

protein:increased expression:plasma:

NCBI chrNW_004936588:345,678...347,420
Ensembl chrNW_004936588:345,678...347,413

G

MPL proto-oncogene, thrombopoietin receptor

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

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

NCBI chrNW_004936474:24,744,673...24,757,189
Ensembl chrNW_004936474:24,744,673...24,757,085

G

MYB proto-oncogene, transcription factor

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

NCBI chrNW_004936560:2,797,943...2,828,813
Ensembl chrNW_004936560:2,796,697...2,829,650

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936754:808,894...828,554
Ensembl chrNW_004936754:808,213...828,613

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1

PMID:15705783 PMID:20404132 PMID:21990094 PMID:23812944 PMID:24777453 More...

NCBI chrNW_004936558:4,103,898...4,126,883
Ensembl chrNW_004936558:4,104,534...4,123,869

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chrNW_004936604:127,841...131,056

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272

G

thrombopoietin

ClinVar Annotator: match by term: Thrombocythemia 1

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

NCBI chrNW_004936578:5,508,669...5,515,984
Ensembl chrNW_004936578:5,509,111...5,515,103

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048

G

von Willebrand factor

NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754

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 chrNW_004936641:2,608,109...2,622,446
Ensembl chrNW_004936641:2,608,100...2,622,409

Familial Myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Familial myelofibrosis

NCBI chrNW_004936558:4,103,898...4,126,883
Ensembl chrNW_004936558:4,104,534...4,123,869

G

vacuolar protein sorting 45 homolog

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936580:380,794...435,115
Ensembl chrNW_004936580:380,788...435,142

Ghosal hematodiaphyseal syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thromboxane A synthase 1

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

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

NCBI chrNW_004936592:4,038,163...4,192,772
Ensembl chrNW_004936592:4,038,074...4,192,808

HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucyl-tRNA synthetase 2, mitochondrial

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

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

NCBI chrNW_004936695:353,965...492,014
Ensembl chrNW_004936695:350,975...492,011

Hypochromic Microcytic Anemia with Iron Overload 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 11 member 2

ClinVar Annotator: match by term: SLC11A2-related condition

PMID:25741868 PMID:28492532 PMID:35457224

NCBI chrNW_004936512:8,590,302...8,622,121
Ensembl chrNW_004936512:8,586,262...8,623,597

juvenile myelomonocytic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 12

disease_progression

NCBI chrNW_004936489:4,237,466...4,258,408
Ensembl chrNW_004936489:4,237,439...4,261,141

G

Rho GTPase activating protein 26

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

NCBI chrNW_004936504:11,106,030...11,531,854
Ensembl chrNW_004936504:11,108,092...11,531,861

G

ASXL transcriptional regulator 1

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chrNW_004936485:19,218,494...19,297,188
Ensembl chrNW_004936485:19,227,400...19,298,912

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288

G

colony stimulating factor 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:9389708 PMID:22315502

NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936493:6,963,406...7,013,256
Ensembl chrNW_004936493:6,935,386...7,007,610

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939

G

fms related receptor tyrosine kinase 3

OMIM:607785

NCBI chrNW_004936472:23,169,967...23,239,178
Ensembl chrNW_004936472:23,170,470...23,256,904

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936798:406,258...414,785
Ensembl chrNW_004936798:406,258...414,931

G

Janus kinase 3

disease_progression

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523

G

neurofibromin 1

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448

G

Rac family small GTPase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936492:3,726,375...3,737,961
Ensembl chrNW_004936492:3,726,313...3,736,905

G

RAS related

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936664:3,456,681...3,460,537
Ensembl chrNW_004936664:3,456,290...3,460,788

G

RAS related 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936528:4,413,436...4,429,166
Ensembl chrNW_004936528:4,413,436...4,427,741

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:23832011 PMID:26457647

NCBI chrNW_004936517:1,616,169...1,798,002
Ensembl chrNW_004936517:1,616,169...1,970,398

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936558:4,103,898...4,126,883
Ensembl chrNW_004936558:4,104,534...4,123,869

G

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

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936470:5,233,798...5,258,266
Ensembl chrNW_004936470:5,233,740...5,258,266

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 chrNW_004936803:731,878...754,540
Ensembl chrNW_004936803:749,740...754,473

Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9

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

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

NCBI chrNW_004936803:765,839...782,176

multiple myeloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936741:1,729,707...1,756,108
Ensembl chrNW_004936741:1,729,679...1,757,419

G

apolipoprotein E

treatment

NCBI chrNW_004936706:1,512,438...1,516,805

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936495:2,690,231...2,762,213
Ensembl chrNW_004936495:2,690,328...2,761,418

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936875:295,238...310,457

G

beta-2-microglobulin

ClinVar Annotator: match by term: Myelomatosis

NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936586:2,200,211...2,272,781
Ensembl chrNW_004936586:2,200,205...2,273,307

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921

G

BCL2 like 1

CTD Direct Evidence: marker/mechanism

PMID:12429644 PMID:14656874

NCBI chrNW_004936485:18,654,046...18,707,324

G

BCL2 like 10

protein:increased expression:bone marrow :

NCBI chrNW_004936471:13,943,600...13,946,085

G

BCL6 corepressor like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936479:1,539,676...1,605,647
Ensembl chrNW_004936479:1,538,051...1,606,344

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936486:18,449,371...18,460,435
Ensembl chrNW_004936486:18,448,494...18,455,927

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Myelomatosis

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

NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chrNW_004936472:26,945,659...27,017,693

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936507:8,789,952...8,797,247

G

Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288

G

chromobox 7

susceptibility

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

NCBI chrNW_004936492:2,411,171...2,428,484
Ensembl chrNW_004936492:2,410,308...2,428,682

G

cellular communication network factor 1

exacerbates

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

PMID:25061178 PMID:28035364

RGD:329845528 RGD:329845546

NCBI chrNW_004936608:152,174...155,123
Ensembl chrNW_004936608:151,838...155,358

G

cyclin D1

susceptibility

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

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

Ensembl chrNW_004936599:973,838...983,316

G

cyclin D2

NCBI chrNW_004936606:4,474,801...4,496,158
Ensembl chrNW_004936606:4,474,749...4,496,810

G

cyclin D3

NCBI chrNW_004936476:17,799,754...17,886,835
Ensembl chrNW_004936476:17,879,869...17,886,827

G

CD40 molecule

treatment

human cells in a mouse model

NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280

G

CD40 ligand

treatment
disease_progression

protein:increased expression:serum (human)

PMID:15565183 PMID:22403003 PMID:27243341

RGD:11352240 RGD:11352251 RGD:11352268

NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403

G

CD46 molecule

protein:increased expression:plasma cell (human)

NCBI chrNW_004936557:5,136,784...5,175,543

G

CD86 molecule

severity

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

PMID:16611307 PMID:22705596

NCBI chrNW_004936536:8,414,491...8,481,712

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 chrNW_004936646:1,886,262...1,889,260

G

cyclin dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936522:9,769,761...9,775,374
Ensembl chrNW_004936522:9,769,756...9,775,077

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

NCBI chrNW_004936567:1,411,080...1,418,332
Ensembl chrNW_004936567:1,411,037...1,418,801

G

cereblon

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936577:2,834,134...2,854,116
Ensembl chrNW_004936577:2,833,972...2,851,174

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936475:3,750,917...3,812,118
Ensembl chrNW_004936475:3,750,882...3,812,118

G

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

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936511:8,082,909...8,105,203
Ensembl chrNW_004936511:8,082,406...8,108,233

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936493:6,963,406...7,013,256
Ensembl chrNW_004936493:6,935,386...7,007,610

G

desmoglein 2

disease_progression

NCBI chrNW_004936682:1,676,301...1,725,132
Ensembl chrNW_004936682:1,676,290...1,722,783

G

eukaryotic translation initiation factor 1A X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936624:4,010,912...4,029,520
Ensembl chrNW_004936624:4,010,753...4,030,374

G

endoglin

severity

protein:increased expression:serum:

NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488

G

epoxide hydrolase 1

no_association
susceptibility

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

PMID:16949155 PMID:19736056 PMID:24521996

RGD:11252116 RGD:11252121 RGD:11252122

NCBI chrNW_004936526:2,589,254...2,652,831
Ensembl chrNW_004936526:2,614,059...2,653,286

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

NCBI chrNW_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression
sexual_dimorphism

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

PMID:17131345 PMID:22183071

RGD:11252199 RGD:401827277

NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692

G

ETS2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179

G

Fas ligand

disease_progression

NCBI chrNW_004936481:14,789,547...14,795,780

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823

G

Fc fragment of IgG receptor IIa

disease_progression
susceptibility

DNA:polymorphism: :rs1801274(human)

PMID:17315188 PMID:25850245

RGD:11040778 RGD:11040938

NCBI chrNW_004937131:15,542...22,099

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Myelomatosis

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

NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296

G

fibrinogen gamma chain

treatment

NCBI chrNW_004936576:1,343,657...1,352,085
Ensembl chrNW_004936576:1,343,661...1,352,143

G

fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936472:23,169,967...23,239,178
Ensembl chrNW_004936472:23,170,470...23,256,904

G

fms related receptor tyrosine kinase 3 ligand

disease_progression

protein:increased expression:serum:

NCBI chrNW_004936664:3,343,541...3,351,590
Ensembl chrNW_004936664:3,343,491...3,350,176

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

NCBI chrNW_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588

G

glutathione peroxidase 1

NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498

G

glutathione S-transferase pi 1

disease_progression
treatment
no_association

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

PMID:17512053 PMID:18061666 PMID:23953887

RGD:10755413 RGD:10755419 RGD:11075094

NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074

G

homeostatic iron regulator

susceptibility

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

NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580

G

hexokinase 1

NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793

G

HRas proto-oncogene, GTPase

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

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

NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936543:2,110,351...2,111,896
Ensembl chrNW_004936543:2,110,304...2,112,186

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

PMID:7686390 PMID:7834632

RGD:11354981 RGD:11520780

NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174

G

insulin like growth factor 2 receptor

protein:increased expression:serum,urine:

NCBI chrNW_004936489:11,447,043...11,523,695
Ensembl chrNW_004936489:11,447,038...11,524,174

G

interleukin 10

disease_progression

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

PMID:11022130 PMID:11307152

RGD:11041888 RGD:11049458

NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

G

interleukin 1 alpha

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

PMID:1777241 PMID:17926179 PMID:25469832

RGD:11049156 RGD:11051973 RGD:11059513

NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315

G

interleukin 1 beta

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

NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165

G

interleukin 1 receptor antagonist

no_association

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

PMID:10848780 PMID:17926179

RGD:11051973 RGD:11522764

NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340

G

interleukin 4 receptor

susceptibility

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

NCBI chrNW_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chrNW_004936549:7,015,595...7,016,246

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936518:5,815,820...5,842,571

G

interferon regulatory factor 4

disease_progression
treatment

CTD Direct Evidence: marker/mechanism
DNA:translocation

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

RGD:11526161 RGD:11530019 RGD:11530055

NCBI chrNW_004936633:1,565,293...1,580,859
Ensembl chrNW_004936633:1,564,637...1,580,859

G

interferon regulatory factor 8

DNA:hypermethylation

NCBI chrNW_004936641:2,608,109...2,622,446
Ensembl chrNW_004936641:2,608,100...2,622,409

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936751:159,628...204,136
Ensembl chrNW_004936751:167,920...203,966

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936527:7,310,885...7,508,032
Ensembl chrNW_004936527:7,312,721...7,506,365

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chrNW_004936512:6,819,240...6,860,852
Ensembl chrNW_004936512:6,822,057...6,854,451

G

KRAS proto-oncogene, GTPase

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

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

NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936489:2,607,114...2,649,879
Ensembl chrNW_004936489:2,605,195...2,649,879

G

DNA ligase 4

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

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

NCBI chrNW_004936472:3,861,833...3,867,943
Ensembl chrNW_004936472:3,861,866...3,867,933

G

cytochrome P450 2D17

no_association

DNA:polymorphisms: :

NCBI chrNW_004936718:153,340...157,966

G

notch receptor 2

protein:increased expression:bone marrow (human)

NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321

G

angiotensin-converting enzyme

protein:increased activity:serum

NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177

G

cytochrome P450 1A1

susceptibility

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

NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332

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 chrNW_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936580:803,452...806,966
Ensembl chrNW_004936580:804,903...806,796

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chrNW_004936694:970,706...980,605

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179

G

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

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936869:568,324...589,972
Ensembl chrNW_004936869:568,840...590,269

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936880:646,835...661,312
Ensembl chrNW_004936880:644,079...661,544

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936471:4,946,770...5,073,925
Ensembl chrNW_004936471:4,946,124...5,073,849

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936529:1,494,748...1,509,925
Ensembl chrNW_004936529:1,495,059...1,509,901

G

methylenetetrahydrofolate reductase

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

NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

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

NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

NCBI chrNW_004936643:379,790...410,034
Ensembl chrNW_004936643:380,968...409,464

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936580:4,691,870...4,694,092

G

nuclear receptor corepressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936558:658,723...775,263
Ensembl chrNW_004936558:677,610...775,288

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261

G

NFKB inhibitor alpha

DNA:polymorphism

PMID:12377412 PMID:16540234

RGD:2298895 RGD:2298898

NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936494:10,517,488...10,520,567
Ensembl chrNW_004936494:10,517,488...10,520,566

G

non-POU domain containing octamer binding

exacerbates

mRNA:increased expression: (human)

NCBI chrNW_004936762:322,413...343,126
Ensembl chrNW_004936762:321,280...341,537

G

NADPH oxidase 1

protein:increased expression:serum

NCBI chrNW_004936584:6,023,960...6,040,041
Ensembl chrNW_004936584:6,024,008...6,039,866

G

NAD(P)H quinone dehydrogenase 1

no_association

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

PMID:16949155 PMID:18061666 PMID:18156703

RGD:10755419 RGD:10769348

NCBI chrNW_004936475:19,771,384...19,785,034
Ensembl chrNW_004936475:19,769,488...19,785,311

G

NRAS proto-oncogene, GTPase

treatment

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

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

NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936492:8,710,039...8,774,870
Ensembl chrNW_004936492:8,710,039...8,775,112

G

P2Y receptor family member 8

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936644:3,768,646...3,770,610
Ensembl chrNW_004936644:3,768,463...3,770,500

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936526:3,102,468...3,147,601
Ensembl chrNW_004936526:3,102,039...3,147,642

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936596:3,010,526...3,021,848
Ensembl chrNW_004936596:3,010,488...3,021,920

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

NCBI chrNW_004936471:33,135,186...33,173,218
Ensembl chrNW_004936471:33,135,164...33,177,666

G

RNA polymerase I subunit G

sexual_dimorphism

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

NCBI chrNW_004936706:1,852,350...1,854,921
Ensembl chrNW_004936706:1,852,359...1,857,623

G

paraoxonase 1

treatment
severity
susceptibility

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

PMID:15136237 PMID:22348216 PMID:25520116

RGD:10450846 RGD:11040544 RGD:11552578

NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591

G

PRAME nuclear receptor transcriptional regulator

severity

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

PMID:16179254 PMID:24791872

NCBI chrNW_004936619:1,748,337...1,751,748

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936722:1,379,515...1,388,538
Ensembl chrNW_004936722:1,379,515...1,388,546

G

psoriasis susceptibility 1 candidate 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936837:806,668...808,585
Ensembl chrNW_004936837:807,079...808,071

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936760:197,525...209,212
Ensembl chrNW_004936760:197,525...209,518

G

RAN binding protein 2

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

NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999

G

RB binding protein 8, endonuclease

exacerbates

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

NCBI chrNW_004936550:2,482,915...2,554,077
Ensembl chrNW_004936550:2,485,769...2,539,548

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

NCBI chrNW_004936540:1,600,673...1,626,573
Ensembl chrNW_004936540:1,600,398...1,626,652

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936470:7,755,253...7,761,705

G

roundabout guidance receptor 1

ameliorates

NCBI chrNW_004936505:4,329,428...4,711,310
Ensembl chrNW_004936505:4,330,303...4,709,655

G

RUNX family transcription factor 1

mRNA:splice variant

NCBI chrNW_004936500:7,621,328...7,710,909
Ensembl chrNW_004936500:7,486,954...7,709,504

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936669:2,735,111...2,763,060
Ensembl chrNW_004936669:2,738,448...2,763,070

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936561:4,180,607...4,238,623
Ensembl chrNW_004936561:4,180,546...4,229,036

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936560:1,979,804...2,009,167
Ensembl chrNW_004936560:1,979,808...2,088,329

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936558:4,103,898...4,126,883
Ensembl chrNW_004936558:4,104,534...4,123,869

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781

G

secreted protein acidic and cysteine rich

disease_progression

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

PMID:18172295 PMID:23699600

NCBI chrNW_004936515:11,026,156...11,046,812
Ensembl chrNW_004936515:11,025,724...11,046,849

G

secreted phosphoprotein 1

NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936588:884,817...913,052
Ensembl chrNW_004936588:884,789...912,753

G

telomerase reverse transcriptase

NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936752:440,137...577,339
Ensembl chrNW_004936752:440,136...577,615

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936556:292,551...391,644
Ensembl chrNW_004936556:292,586...385,741

G

transferrin receptor

treatment

NCBI chrNW_004936784:696,738...728,385
Ensembl chrNW_004936784:696,713...728,543

G

transforming growth factor beta 1

disease_progression

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

PMID:22560388 PMID:23699600

RGD:11073605 RGD:11073614

NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272

G

tumor necrosis factor

treatment
no_association

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

PMID:12200397 PMID:12815949

RGD:10449450 RGD:10449453

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936741:626,814...637,317

G

TNF receptor superfamily member 17

NCBI chrNW_004936501:907,059...910,084
Ensembl chrNW_004936501:907,009...909,878

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936487:4,057,637...4,081,207
Ensembl chrNW_004936487:4,057,643...4,081,207

G

tumor protein p53

disease_progression
treatment

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

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

RGD:11073716 RGD:11073728 RGD:11075073

NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936577:2,814,464...2,834,068
Ensembl chrNW_004936577:2,814,390...2,832,790

G

thymidylate synthetase

no_association
treatment

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

PMID:17512053 PMID:17655928

RGD:11075094 RGD:11075095

NCBI chrNW_004936550:33,797...42,233
Ensembl chrNW_004936550:34,048...41,840

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936473:30,034,159...30,536,450
Ensembl chrNW_004936473:30,038,164...30,536,567

G

vascular endothelial growth factor A

susceptibility

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

NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673

G

xanthine dehydrogenase

protein:increased expression:serum

NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238

G

exportin 5

severity

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

NCBI chrNW_004936476:16,434,629...16,481,044
Ensembl chrNW_004936476:16,434,638...16,481,044

G

X-ray repair cross complementing 3

disease_progression

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

NCBI chrNW_004936621:1,462,441...1,474,937
Ensembl chrNW_004936621:1,462,428...1,473,868

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

NCBI chrNW_004936469:2,248,367...2,495,215
Ensembl chrNW_004936469:2,248,039...2,495,226

G

X-ray repair cross complementing 5

susceptibility

DNA:SNP:3'-UTR (human)

NCBI chrNW_004936586:1,055,478...1,137,924
Ensembl chrNW_004936586:1,055,335...1,137,984

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004936551:5,638,383...5,740,523
Ensembl chrNW_004936551:5,634,751...5,740,567

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936514:10,587,877...10,603,373
Ensembl chrNW_004936514:10,587,222...10,603,478

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936604:3,911,407...3,945,405

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 chrNW_004936647:3,153,586...3,208,935
Ensembl chrNW_004936647:3,153,485...3,213,582

G

actin related protein 2/3 complex subunit 1B

treatment

NCBI chrNW_004936750:1,651,026...1,662,208
Ensembl chrNW_004936750:1,650,979...1,662,206

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
DNA:mutations:cds:

OMIM
ClinVar
RGD

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

RGD:11038707 RGD:11038769

NCBI chrNW_004936485:19,218,494...19,297,188
Ensembl chrNW_004936485:19,227,400...19,298,912

G

autophagy related 7

OMIM:614286

NCBI chrNW_004936602:1,938,720...2,179,239
Ensembl chrNW_004936602:1,935,507...2,179,256

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620

G

BRCA1 associated deubiquitinase 1

OMIM:614286

NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806

G

BCL2 like 10

susceptibility
treatment

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

PMID:21760590 PMID:24047476

RGD:11058140 RGD:14392809

NCBI chrNW_004936471:13,943,600...13,946,085

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936520:5,707,542...5,716,966
Ensembl chrNW_004936520:5,707,778...5,717,024

G

CD40 molecule

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

NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280

G

cyclin dependent kinase inhibitor 1B

DNA:deletion: :

NCBI chrNW_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461

G

cyclin dependent kinase inhibitor 2B

disease_progression
treatment

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

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

RGD:11251750 RGD:11252169 RGD:11252195

NCBI chrNW_004936652:3,576,975...3,582,790
Ensembl chrNW_004936652:3,538,986...3,581,159

G

CASP8 and FADD like apoptosis regulator

CTD Direct Evidence: marker/mechanism

PMID:14562111 PMID:16105982

NCBI chrNW_004936726:381,888...425,565
Ensembl chrNW_004936726:381,835...423,311

G

CREB binding protein

OMIM:614286

NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617

G

colony stimulating factor 3 receptor

disease_progression

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

PMID:12670333 PMID:15644419

RGD:10450471 RGD:10450504

NCBI chrNW_004936474:18,877,036...18,887,574
Ensembl chrNW_004936474:18,877,375...18,887,530

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936531:7,865,907...8,036,020
Ensembl chrNW_004936531:7,865,820...8,037,935

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936680:2,842,930...3,020,757
Ensembl chrNW_004936680:2,842,547...3,021,058

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 chrNW_004936597:1,787,830...1,793,352
Ensembl chrNW_004936597:1,787,537...1,793,866

G

DEAD-box helicase 42

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

NCBI chrNW_004936541:4,418,743...4,462,513
Ensembl chrNW_004936541:4,429,657...4,465,099

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936604:4,504,519...4,511,897
Ensembl chrNW_004936604:4,504,503...4,511,910

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416

G

DNA methyltransferase 3 alpha

disease_progression

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

PMID:21415852 PMID:22066015 PMID:32431489

RGD:11041122 RGD:11041124

NCBI chrNW_004936493:6,963,406...7,013,256
Ensembl chrNW_004936493:6,935,386...7,007,610

G

DNA methyltransferase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936485:19,547,836...19,570,716

G

early growth response 1

OMIM:614286

NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749

G

erythropoietin

CTD Direct Evidence: therapeutic

PMID:12670338 PMID:16076383

NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343

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 chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression

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

PMID:25154760 PMID:26482462

RGD:11075607 RGD:11252197

NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692

G

ETS variant transcription factor 6

DNA:deletion: :
DNA:translocation: :

PMID:9171997 PMID:12203785 PMID:18476590

RGD:10450601 RGD:10450605 RGD:1581019

NCBI chrNW_004936587:5,328,467...5,457,260
Ensembl chrNW_004936587:5,330,665...5,457,264

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

PMID:20601954 PMID:21125401 PMID:22869879

RGD:10450880 RGD:10450887

NCBI chrNW_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939

G

Fas cell surface death receptor

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

PMID:9557605 PMID:15686130

RGD:11049447 RGD:11049448

NCBI chrNW_004936735:209,369...234,582

G

Fas ligand

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

PMID:9557605 PMID:15686130

RGD:11049447 RGD:11049448

NCBI chrNW_004936481:14,789,547...14,795,780

G

fms related receptor tyrosine kinase 3

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

NCBI chrNW_004936472:23,169,967...23,239,178
Ensembl chrNW_004936472:23,170,470...23,256,904

G

GATA binding protein 1

disease_progression
severity

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

RGD
MouseDO
CTD

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

RGD:10450734 RGD:10450752 RGD:10450753

NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768

G

GATA binding protein 2

severity
susceptibility

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

RGD
OMIM
ClinVar

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

NCBI chrNW_004936798:406,258...414,785
Ensembl chrNW_004936798:406,258...414,931

G

growth factor independent 1 transcriptional repressor

mRNA:decreased expression:bone marrow:

NCBI chrNW_004936537:6,610,565...6,618,509
Ensembl chrNW_004936537:6,610,565...6,618,450

G

G protein subunit beta 1

ClinVar Annotator: match by term: Myelodysplastic syndromes

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

NCBI chrNW_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102

G

glutathione S-transferase pi 1

susceptibility

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

NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860

G

homeostatic iron regulator

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

PMID:12624489 PMID:17001480

NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580

G

isocitrate dehydrogenase (NADP(+)) 1

disease_progression

DNA:mutation: :

NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelodysplastic syndromes

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

NCBI chrNW_004936483:15,845,777...15,864,341
Ensembl chrNW_004936483:15,845,792...15,864,341

G

interleukin 1 beta

mRNA:increased expression:bone marrow

NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Myelodysplasia

PMID:25741868 PMID:28492532

NCBI chrNW_004936484:8,514,333...8,555,392
Ensembl chrNW_004936484:8,544,062...8,555,332

G

integrin subunit beta 3

NCBI chrNW_004936541:2,822,789...2,871,069
Ensembl chrNW_004936541:2,815,738...2,871,035

G

lysine methyltransferase 2E (inactive)

NCBI chrNW_004936479:18,674,657...18,764,177
Ensembl chrNW_004936479:18,675,413...18,738,983

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523

G

leucine rich repeat containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936567:2,238,036...2,355,836
Ensembl chrNW_004936567:2,238,299...2,355,824

G

low affinity immunoglobulin gamma Fc region receptor III-A

NCBI chrNW_004937131:42,523...49,533

G

core histone macro-H2A.1

OMIM:614286

NCBI chrNW_004936597:2,496,489...2,556,352
Ensembl chrNW_004936597:2,495,862...2,556,603

G

LYL1 basic helix-loop-helix family member

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936659:2,135,253...2,140,849
Ensembl chrNW_004936659:2,135,270...2,140,676

G

MDM2 proto-oncogene

no_association

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

NCBI chrNW_004936545:6,709,903...6,732,334

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chrNW_004936694:970,706...980,605

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

NCBI chrNW_004936643:379,790...410,034
Ensembl chrNW_004936643:380,968...409,464

G

MYB proto-oncogene like 2

OMIM:614286

NCBI chrNW_004936530:2,918,924...2,953,467
Ensembl chrNW_004936530:2,918,951...2,953,467

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965

G

nucleophosmin 1

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

PMID:15659725 PMID:20026798 PMID:32581362

NCBI chrNW_004936609:3,712,628...3,725,635

G

NAD(P)H quinone dehydrogenase 1

no_association

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

NCBI chrNW_004936475:19,771,384...19,785,034
Ensembl chrNW_004936475:19,769,488...19,785,311

G

NRAS proto-oncogene, GTPase

disease_progression

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

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

NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590

G

phospholipase C beta 1

severity
treatment

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

PMID:16820933 PMID:19805378 PMID:21109771

RGD:11535164 RGD:11535956

NCBI chrNW_004936485:10,548,966...11,254,139
Ensembl chrNW_004936485:10,548,966...11,253,761

G

prostate transmembrane protein, androgen induced 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936530:429,059...439,847
Ensembl chrNW_004936530:429,045...439,866

G

DNA polymerase gamma, catalytic subunit

OMIM:614286

NCBI chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258

G

PRAME nuclear receptor transcriptional regulator

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

NCBI chrNW_004936619:1,748,337...1,751,748

G

RAP1 GTPase activating protein

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

NCBI chrNW_004936474:7,242,528...7,284,342
Ensembl chrNW_004936474:7,242,824...7,284,395

G

RUNX family transcription factor 1

disease_progression

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

NCBI chrNW_004936500:7,621,328...7,710,909
Ensembl chrNW_004936500:7,486,954...7,709,504

G

sterile alpha motif domain containing 9

ClinVar Annotator: match by term: Myelodysplastic syndrome

PMID:28492532 PMID:30046003 PMID:37160314

NCBI chrNW_004936803:765,839...782,176

G

sterile alpha motif domain containing 9 like

OMIM:614286

NCBI chrNW_004936803:731,878...754,540
Ensembl chrNW_004936803:749,740...754,473

G

splicing factor 3b subunit 1

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

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

NCBI chrNW_004936506:1,749,591...1,790,860
Ensembl chrNW_004936506:1,749,563...1,791,739

G

solute carrier family 22 member 5

mRNA:decreased expression:PBMCs (human)

NCBI chrNW_004936647:2,774,063...2,798,585
Ensembl chrNW_004936647:2,773,768...2,798,511

G

sphingomyelin phosphodiesterase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:18,667,563...18,755,132
Ensembl chrNW_004936475:18,671,428...18,755,208

G

sphingosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936594:1,482,830...1,489,337
Ensembl chrNW_004936594:1,486,111...1,489,188

G

serine and arginine rich splicing factor 11

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

NCBI chrNW_004936591:1,789,358...1,825,854
Ensembl chrNW_004936591:1,789,366...1,816,342

G

serine and arginine rich splicing factor 2

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

NCBI chrNW_004936594:1,775,412...1,778,389
Ensembl chrNW_004936594:1,777,376...1,778,164

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936479:6,508,539...6,635,127
Ensembl chrNW_004936479:6,508,532...6,632,627

G

telomerase reverse transcriptase

severity

ClinVar Annotator: match by term: Myelodysplasia

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

NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697

G

tet methylcytosine dioxygenase 2

severity

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

OMIM
ClinVar
RGD

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

NCBI chrNW_004936752:440,137...577,339
Ensembl chrNW_004936752:440,136...577,615

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788

G

tumor necrosis factor

disease_progression

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

PMID:10697556 PMID:15888251

RGD:10450530 RGD:10450881

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

tumor protein p53

disease_progression
treatment
no_association

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

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

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

NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425

G

U2 small nuclear RNA auxiliary factor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936500:937,537...967,791
Ensembl chrNW_004936500:958,256...967,829

G

X-ray repair cross complementing 1

no_association

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

NCBI chrNW_004936706:752,571...783,746
Ensembl chrNW_004936706:751,108...783,777

G

zinc finger protein, FOG family member 2

NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662

G

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

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

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

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

NCBI chrNW_004936470:5,233,798...5,258,266
Ensembl chrNW_004936470:5,233,740...5,258,266

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 chrNW_004936514:10,370,961...10,422,484
Ensembl chrNW_004936514:10,370,959...10,403,889

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:20601953 PMID:24218139

NCBI chrNW_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939

myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

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

PMID:21712540 PMID:23619563

RGD:11038705 RGD:11038768

NCBI chrNW_004936485:19,218,494...19,297,188
Ensembl chrNW_004936485:19,227,400...19,298,912

G

autophagy related 2B

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004936604:583,391...641,217
Ensembl chrNW_004936604:584,480...641,183

G

bradykinin receptor B1

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004936604:551,774...567,014

G

bradykinin receptor B2

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004936604:548,844...551,031
Ensembl chrNW_004936604:548,847...549,956

G

calreticulin

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

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

NCBI chrNW_004936659:1,994,695...1,999,070
Ensembl chrNW_004936659:1,994,648...1,999,430

G

chromosome unknown C14orf132 homolog

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004936604:386,940...433,477
Ensembl chrNW_004936604:392,060...428,276

G

ERCC excision repair 1, endonuclease non-catalytic subunit

NCBI chrNW_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

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

NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

PMID:20601953 PMID:21921040

NCBI chrNW_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939

G

fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:multiple:

NCBI chrNW_004936472:23,169,967...23,239,178
Ensembl chrNW_004936472:23,170,470...23,256,904

G

fms related receptor tyrosine kinase 3 ligand

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

NCBI chrNW_004936664:3,343,541...3,351,590
Ensembl chrNW_004936664:3,343,491...3,350,176

G

GATA binding protein 1

OMIM:254450

NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768

G

GSK3B interacting protein

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004936604:657,602...675,702
Ensembl chrNW_004936604:657,400...675,923

G

homeostatic iron regulator

no_association
susceptibility

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

NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580

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 chrNW_004936503:67,933...78,496

G

Janus kinase 2

treatment

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

OMIM
ClinVar
RGD

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

NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867

G

lysine methyltransferase 2A

exacerbates

DNA:mutations:multiple (human)

NCBI chrNW_004936542:3,480,071...3,566,823
Ensembl chrNW_004936542:3,391,774...3,562,147

G

MPL proto-oncogene, thrombopoietin receptor

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

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

NCBI chrNW_004936474:24,744,673...24,757,189
Ensembl chrNW_004936474:24,744,673...24,757,085

G

MYB proto-oncogene, transcription factor

OMIM:254450

NCBI chrNW_004936560:2,797,943...2,828,813
Ensembl chrNW_004936560:2,796,697...2,829,650

G

nuclear receptor corepressor 2

OMIM:254450

NCBI chrNW_004936558:658,723...775,263
Ensembl chrNW_004936558:677,610...775,288

G

SH2B adaptor protein 3

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

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

NCBI chrNW_004936558:4,103,898...4,126,883
Ensembl chrNW_004936558:4,104,534...4,123,869

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:25741868 PMID:26936507 PMID:32581362

NCBI chrNW_004936561:3,826,802...3,844,406
Ensembl chrNW_004936561:3,825,787...3,844,483

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004936604:127,841...131,056

G

transforming growth factor beta 1

treatment

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

NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272

G

tumor protein p53

disease_progression

associated with Myelodysplastic Syndromes;

NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425

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 chrNW_004936602:586,284...607,088
Ensembl chrNW_004936602:586,169...607,158

Myeloid Leukemia, Accelerated Phase

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936520:5,707,542...5,716,966
Ensembl chrNW_004936520:5,707,778...5,717,024

Myeloid Leukemia, Chronic-Phase

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

disease_progression

DNA:hypermethylation:promoter

PMID:11559572 PMID:19344397

RGD:11038809 RGD:11038811

NCBI chrNW_004936487:17,690,206...17,819,619
Ensembl chrNW_004936487:17,690,968...17,819,669

G

BCR activator of RhoGEF and GTPase

disease_progression

NCBI chrNW_004936619:288,377...432,297
Ensembl chrNW_004936619:288,340...432,315

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs11615 (human)

NCBI chrNW_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745

G

growth factor independent 1 transcriptional repressor

disease_progression

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

PMID:19887785 PMID:23411466

RGD:11040457 RGD:11040461

NCBI chrNW_004936537:6,610,565...6,618,509
Ensembl chrNW_004936537:6,610,565...6,618,450

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chrNW_004936487:19,414,135...19,417,465
Ensembl chrNW_004936487:19,414,135...19,417,465

myeloid neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

autophagy related 2B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936604:583,391...641,217
Ensembl chrNW_004936604:584,480...641,183

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936619:288,377...432,297
Ensembl chrNW_004936619:288,340...432,315

G

calreticulin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936659:1,994,695...1,999,070
Ensembl chrNW_004936659:1,994,648...1,999,430

G

Cbl proto-oncogene

disease_progression

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

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

RGD:11038798 RGD:11038808

NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, plasma membrane

NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chrNW_004936493:6,963,406...7,013,256
Ensembl chrNW_004936493:6,935,386...7,007,610

G

early growth response 1

NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chrNW_004936587:5,328,467...5,457,260
Ensembl chrNW_004936587:5,330,665...5,457,264

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

NCBI chrNW_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939

G

coagulation factor III, tissue factor

treatment

NCBI chrNW_004936537:4,637,028...4,647,915
Ensembl chrNW_004936537:4,636,667...4,647,916

G

fibroblast growth factor receptor 1

treatment

CTD Direct Evidence: marker/mechanism

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

RGD:11352309 RGD:11352667

NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508

G

FGFR1 oncogene partner 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936548:521,418...548,290
Ensembl chrNW_004936548:523,288...534,703

G

fms related receptor tyrosine kinase 3

NCBI chrNW_004936472:23,169,967...23,239,178
Ensembl chrNW_004936472:23,170,470...23,256,904

G

growth factor independent 1 transcriptional repressor

NCBI chrNW_004936537:6,610,565...6,618,509
Ensembl chrNW_004936537:6,610,565...6,618,450

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chrNW_004936487:19,414,135...19,417,465
Ensembl chrNW_004936487:19,414,135...19,417,465

G

glutathione peroxidase 1

DNA:polymorphism: :p.P198L (human)

NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987

G

GSK3B interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936604:657,602...675,702
Ensembl chrNW_004936604:657,400...675,923

G

heat shock protein family A (Hsp70) member 5

NCBI chrNW_004936487:13,348,465...13,352,717
Ensembl chrNW_004936487:13,348,465...13,352,717

G

insulin like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925

G

insulin like 6

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chrNW_004936503:67,933...78,496

G

interferon regulatory factor 4

NCBI chrNW_004936633:1,565,293...1,580,859
Ensembl chrNW_004936633:1,564,637...1,580,859

G

interferon regulatory factor 8

NCBI chrNW_004936641:2,608,109...2,622,446
Ensembl chrNW_004936641:2,608,100...2,622,409

G

Janus kinase 2

severity
no_association

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

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

RGD:10449376 RGD:10449393

NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867

G

KRAS proto-oncogene, GTPase

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

NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523

G

MDS1 and EVI1 complex locus

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

PMID:9044825 PMID:29047144

NCBI chrNW_004936593:2,742,236...3,282,596
Ensembl chrNW_004936593:3,106,202...3,282,596

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936474:24,744,673...24,757,189
Ensembl chrNW_004936474:24,744,673...24,757,085

G

methylenetetrahydrofolate reductase

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

NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193

G

nucleophosmin 1

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

NCBI chrNW_004936609:3,712,628...3,725,635

G

NAD(P)H quinone dehydrogenase 1

NCBI chrNW_004936475:19,771,384...19,785,034
Ensembl chrNW_004936475:19,769,488...19,785,311

G

NRAS proto-oncogene, GTPase

disease_progression

NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425

G

zinc finger MYM-type containing 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936720:1,643,711...1,726,124
Ensembl chrNW_004936720:1,643,710...1,724,943

myeloproliferative disorder with eosinophilia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor beta

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

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

NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829

myeloproliferative neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

NCBI chrNW_004936485:19,218,494...19,297,188
Ensembl chrNW_004936485:19,227,400...19,298,912

G

colony stimulating factor 3 receptor

NCBI chrNW_004936474:18,877,036...18,887,574
Ensembl chrNW_004936474:18,877,375...18,887,530

G

cut like homeobox 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm

NCBI chrNW_004936543:1,482,606...1,781,294
Ensembl chrNW_004936543:1,485,970...1,796,070

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 chrNW_004936597:1,787,830...1,793,352
Ensembl chrNW_004936597:1,787,537...1,793,866

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chrNW_004936587:5,328,467...5,457,260
Ensembl chrNW_004936587:5,330,665...5,457,264

G

inositol-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:35101336

NCBI chrNW_004936526:3,378,046...3,477,177
Ensembl chrNW_004936526:3,376,786...3,477,554

G

Janus kinase 2

NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867

G

neurofibromin 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261

G

notch receptor 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587

G

platelet derived growth factor receptor beta

DNA:translocation: :

NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323

G

transcription factor 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chrNW_004936588:884,817...913,052
Ensembl chrNW_004936588:884,789...912,753

G

tet methylcytosine dioxygenase 2

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

NCBI chrNW_004936752:440,137...577,339
Ensembl chrNW_004936752:440,136...577,615

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 chrNW_004936607:3,576,357...3,632,423
Ensembl chrNW_004936607:3,576,392...3,632,554

G

pseudouridine synthase 1

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

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

NCBI chrNW_004936660:2,192,583...2,199,645
Ensembl chrNW_004936660:2,192,651...2,199,602

G

tyrosyl-tRNA synthetase 2

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936607:3,565,333...3,590,499
Ensembl chrNW_004936607:3,565,295...3,574,846

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 chrNW_004936660:2,192,583...2,199,645
Ensembl chrNW_004936660:2,192,651...2,199,602

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 chrNW_004936607:3,576,357...3,632,423
Ensembl chrNW_004936607:3,576,392...3,632,554

G

tyrosyl-tRNA synthetase 2

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

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

NCBI chrNW_004936607:3,565,333...3,590,499
Ensembl chrNW_004936607:3,565,295...3,574,846

Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cbl proto-oncogene

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

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

NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288

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 chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448

paroxysmal nocturnal hemoglobinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

protein:increased processing:erythrocyte

NCBI chrNW_004936588:3,985,732...4,023,221

G

complement C5

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

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

NCBI chrNW_004936487:9,391,774...9,474,168
Ensembl chrNW_004936487:9,391,804...9,474,159

G

C-X-C motif chemokine receptor 4

treatment

NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459

G

phosphatidylinositol glycan anchor biosynthesis class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria

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

NCBI chrNW_004936470:4,730,955...4,746,958
Ensembl chrNW_004936470:4,730,961...4,746,985

G

phosphatidylinositol glycan anchor biosynthesis class T

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199

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 chrNW_004936470:4,730,955...4,746,958
Ensembl chrNW_004936470:4,730,961...4,746,985

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199

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 chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280

G

telomerase reverse transcriptase

NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697

polycythemia vera

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Polycythemia rubra vera

NCBI chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211

G

BCL2 like 1

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

NCBI chrNW_004936485:18,654,046...18,707,324

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365

G

erythropoietin receptor

mRNA:decreased expression:blood cell:

NCBI chrNW_004936659:1,468,391...1,473,880
Ensembl chrNW_004936659:1,468,634...1,473,880

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166

G

homeostatic iron regulator

susceptibility
no_association

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

NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580

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 chrNW_004936503:67,933...78,496

G

Janus kinase 2

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

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

NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867

G

neutrophil elastase

protein:increased expression:plasma:

PMID:12186827 PMID:18768782

RGD:10450556 RGD:10450557

NCBI chrNW_004936588:345,678...347,420
Ensembl chrNW_004936588:345,678...347,413

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 chrNW_004936798:721,539...734,142
Ensembl chrNW_004936798:726,364...734,068

G

acyl-CoA dehydrogenase family member 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:5,915,241...5,997,230
Ensembl chrNW_004936529:5,914,539...5,996,902

G

acyl-CoA dehydrogenase family member 9

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

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

NCBI chrNW_004936798:83,952...106,381
Ensembl chrNW_004936798:90,584...106,041

G

atypical chemokine receptor 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:5,950,451...5,957,019
Ensembl chrNW_004936529:5,955,300...5,956,352

G

acid phosphatase 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:5,661,772...5,723,108
Ensembl chrNW_004936529:5,661,702...5,725,363

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 chrNW_004936725:1,751,272...1,897,937
Ensembl chrNW_004936725:1,751,266...1,897,946

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 chrNW_004936898:456,299...484,681
Ensembl chrNW_004936898:456,521...484,282

G

angiomotin like 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:7,454,778...7,471,660
Ensembl chrNW_004936529:7,454,763...7,471,718

G

anaphase promoting complex subunit 13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:7,569,362...7,577,537

G

arginine-fifty homeobox

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,025,883...8,040,423

G

asteroid homolog 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:4,472,157...4,484,319
Ensembl chrNW_004936529:4,470,347...4,484,590

G

ATPase secretory pathway Ca2+ transporting 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chrNW_004936529:4,340,131...4,474,884
Ensembl chrNW_004936529:4,361,424...4,474,436

G

beaded filament structural protein 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:6,632,292...6,699,968
Ensembl chrNW_004936529:6,632,197...6,699,998

G

calcium sensing receptor

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454

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 chrNW_004936725:1,273,984...1,331,096
Ensembl chrNW_004936725:1,273,946...1,331,109

G

CD86 molecule

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,414,491...8,481,712

G

CDV3 homolog

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:6,764,838...6,781,696
Ensembl chrNW_004936529:6,764,766...6,781,882

G

centrosomal protein 63

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:7,577,122...7,632,161
Ensembl chrNW_004936529:7,585,839...7,635,439

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 chrNW_004936898:542,581...553,484
Ensembl chrNW_004936898:545,534...553,384

G

cilia and flagella associated protein 92 (putative)

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936798:107,074...144,373

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

G

CCHC-type zinc finger nucleic acid binding protein

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936798:207,442...210,124
Ensembl chrNW_004936798:206,217...215,354

G

collagen type VI alpha 5 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chrNW_004936529:3,885,323...3,983,507

G

collagen type VI alpha 6 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chrNW_004936529:4,055,824...4,158,765
Ensembl chrNW_004936529:4,055,824...4,147,919

G

COPI coat complex subunit gamma 1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936798:238,741...259,962
Ensembl chrNW_004936798:238,571...260,083

G

copine 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:4,944,915...5,386,249

G

cystatin A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,649,890...8,662,472
Ensembl chrNW_004936536:8,649,703...8,662,490

G

chromosome unknown C3orf22 homolog

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

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

NCBI chrNW_004936898:608,726...610,110

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 chrNW_004936798:425,156...425,916
Ensembl chrNW_004936798:425,182...425,880

G

DnaJ heat shock protein family (Hsp40) member C13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:5,768,229...5,883,841
Ensembl chrNW_004936529:5,785,538...5,883,097

G

deltex E3 ubiquitin ligase 3L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,844,778...8,853,442
Ensembl chrNW_004936536:8,844,575...8,851,146

G

ELL associated factor 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,213,794...8,257,595
Ensembl chrNW_004936536:8,213,763...8,258,201

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 chrNW_004936798:448,114...512,234
Ensembl chrNW_004936798:448,105...512,256

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 chrNW_004936798:148,549...167,924
Ensembl chrNW_004936798:149,027...167,705

G

EPH receptor B1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:8,006,780...8,261,923
Ensembl chrNW_004936529:7,839,768...8,261,942

G

family with sequence similarity 162 member A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,697,631...8,725,667
Ensembl chrNW_004936536:8,697,595...8,730,329

G

F-box protein 40

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,045,171...8,064,492
Ensembl chrNW_004936536:8,055,765...8,064,522

G

follistatin like 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:7,132,369...7,186,951
Ensembl chrNW_004936536:7,126,966...7,187,269

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 chrNW_004936798:406,258...414,785
Ensembl chrNW_004936798:406,258...414,931

G

golgin B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,085,805...8,149,764
Ensembl chrNW_004936536:8,085,777...8,149,986

G

glycoprotein IX platelet

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936798:170,654...171,625

G

general transcription factor IIE subunit 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:7,418,087...7,445,993
Ensembl chrNW_004936536:7,422,334...7,445,949

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 chrNW_004936725:1,614,637...1,705,111
Ensembl chrNW_004936725:1,614,622...1,705,132

G

hematopoietic cell-specific Lyn substrate 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,065,489...8,084,777
Ensembl chrNW_004936536:8,065,464...8,083,923

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 chrNW_004936725:261,809...336,390
Ensembl chrNW_004936725:261,712...336,414

G

homogentisate 1,2-dioxygenase

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:7,314,548...7,359,426
Ensembl chrNW_004936536:7,314,754...7,352,222

G

5-hydroxymethylcytosine binding, ES cell specific

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936798:261,566...284,480
Ensembl chrNW_004936798:261,661...273,011

G

HSPB1 associated protein 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,976,625...8,994,974

G

intraflagellar transport 122

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936602:908,034...956,634
Ensembl chrNW_004936602:905,486...956,521

G

immunoglobulin like domain containing receptor 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,351,394...8,383,857
Ensembl chrNW_004936536:8,351,359...8,383,907

G

IQ motif containing B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708

G

integrin subunit beta 5

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

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

NCBI chrNW_004936725:417,824...530,993
Ensembl chrNW_004936725:417,433...532,760

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 chrNW_004936725:749,382...1,020,702
Ensembl chrNW_004936725:572,868...1,139,142

G

kelch repeat and BTB domain containing 12

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

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

NCBI chrNW_004936798:598,027...618,672

G

KLF transcription factor 15

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

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

NCBI chrNW_004936898:519,572...529,319

G

karyopherin subunit alpha 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,735,159...8,801,385
Ensembl chrNW_004936536:8,737,488...8,801,428

G

kyphoscoliosis peptidase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:7,657,963...7,704,482
Ensembl chrNW_004936529:7,657,957...7,704,517

G

protein mono-ADP-ribosyltransferase PARP14

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,923,398...8,976,583
Ensembl chrNW_004936536:8,923,411...8,974,283

G

urocanate hydratase

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 chrNW_004936898:583,802...600,305
Ensembl chrNW_004936898:584,157...600,305

G

U8 snoRNA-decapping enzyme

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:4,825,277...4,827,011
Ensembl chrNW_004936529:4,825,189...4,826,886

G

serotransferrin

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:6,917,762...6,947,512
Ensembl chrNW_004936529:6,855,958...6,947,394

G

histone H1.8

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936602:885,478...890,014

G

methyl-CpG binding domain 4, DNA glycosylase

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936602:968,159...980,452
Ensembl chrNW_004936602:956,784...967,884

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 chrNW_004936798:756,350...768,600
Ensembl chrNW_004936798:756,588...765,338

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 chrNW_004936798:681,549...721,645
Ensembl chrNW_004936798:681,380...724,463

G

mitochondrial matrix import factor 23

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,671,244...8,696,754
Ensembl chrNW_004936536:8,671,172...8,696,886

G

mitochondrial ribosomal protein L3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:4,884,795...4,925,093
Ensembl chrNW_004936529:4,884,009...4,925,114

G

MSL complex subunit 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:9,035,198...9,068,567
Ensembl chrNW_004936529:9,033,895...9,068,567

G

mucin 13, cell surface associated

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

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

NCBI chrNW_004936725:381,006...400,333

G

myosin light chain kinase

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

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

NCBI chrNW_004936725:1,418,930...1,594,697
Ensembl chrNW_004936725:1,424,130...1,592,840

G

NCK adaptor protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:9,647,161...9,718,512
Ensembl chrNW_004936529:9,701,530...9,721,869

G

NADH:ubiquinone oxidoreductase subunit B4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:7,291,906...7,298,490

G

NIMA related kinase 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:4,484,397...4,785,902
Ensembl chrNW_004936529:4,487,656...4,785,912

G

nephrocystin 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:6,013,321...6,048,249
Ensembl chrNW_004936529:6,009,301...6,049,447

G

poly(ADP-ribose) polymerase family member 9

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,806,824...8,845,099
Ensembl chrNW_004936536:8,806,818...8,840,746

G

propionyl-CoA carboxylase subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:9,106,525...9,166,311
Ensembl chrNW_004936529:9,106,496...9,176,394

G

protein disulfide isomerase family A member 5

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936725:2,024,646...2,114,530
Ensembl chrNW_004936725:2,024,643...2,114,560

G

phosphoinositide-3-kinase regulatory subunit 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chrNW_004936529:4,162,276...4,232,471
Ensembl chrNW_004936529:4,162,112...4,232,510

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 chrNW_004936798:951,138...989,955
Ensembl chrNW_004936798:952,428...989,894

G

plexin D1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936602:848,130...882,195
Ensembl chrNW_004936602:848,140...881,873

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 chrNW_004936798:736,003...745,634

G

DNA polymerase theta

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:7,904,166...8,004,305
Ensembl chrNW_004936536:7,904,981...8,004,199

G

protein phosphatase 2 regulatory subunit B''alpha

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:8,885,803...9,034,217
Ensembl chrNW_004936529:8,920,243...9,033,865

G

RAB43, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936798:176,772...180,387
Ensembl chrNW_004936798:176,304...178,725

G

RAB6B, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:6,969,507...7,031,733
Ensembl chrNW_004936529:6,969,284...7,031,918

G

RAB7A, member RAS oncogene family

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

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

NCBI chrNW_004936798:297,600...304,929
Ensembl chrNW_004936798:296,066...305,176

G

RAB, member of RAS oncogene family like 3

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:7,366,669...7,417,951
Ensembl chrNW_004936536:7,366,625...7,418,679

G

rhodopsin

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664

G

rhophilin associated tail protein 1

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

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

NCBI chrNW_004936725:1,254,973...1,267,143

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 chrNW_004936798:347,803...355,392
Ensembl chrNW_004936798:347,766...355,165

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 chrNW_004936798:559,706...572,710
Ensembl chrNW_004936798:559,778...572,506

G

receptor like tyrosine kinase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:7,273,070...7,344,372
Ensembl chrNW_004936529:7,273,097...7,332,468

G

SEC22 homolog A, vesicle trafficking protein

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936725:1,906,304...1,982,413
Ensembl chrNW_004936725:1,906,362...1,975,567

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 chrNW_004936798:578,090...587,010
Ensembl chrNW_004936798:578,038...587,192

G

semaphorin 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936725:2,229,772...2,270,458
Ensembl chrNW_004936725:2,229,764...2,268,894

G

solute carrier family 12 member 8

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

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

NCBI chrNW_004936725:100,780...237,525
Ensembl chrNW_004936725:100,823...237,223

G

solute carrier family 15 member 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,280,537...8,316,011
Ensembl chrNW_004936536:8,280,448...8,316,064

G

solute carrier family 41 member 3

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

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

NCBI chrNW_004936898:433,977...454,746
Ensembl chrNW_004936898:433,932...454,752

G

solute carrier family 49 member 4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004937358:39,940...86,612

G

solute carrier organic anion transporter family member 2A1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:7,069,003...7,155,229
Ensembl chrNW_004936529:7,068,970...7,155,950

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 chrNW_004937215:127,074...137,281

G

SRP receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:6,952,472...6,967,542
Ensembl chrNW_004936529:6,952,540...6,966,661

G

STAG1 cohesin complex component

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:9,173,162...9,530,321
Ensembl chrNW_004936529:9,172,166...9,530,304

G

syntaxin binding protein 5L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:7,563,585...7,885,908
Ensembl chrNW_004936536:7,563,607...7,886,038

G

transmembrane and coiled-coil domain family 1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936602:675,911...831,516
Ensembl chrNW_004936602:676,127...831,566

G

transmembrane protein 108

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

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:6,326,775...6,629,247
Ensembl chrNW_004936529:6,326,702...6,629,898

G

DNA topoisomerase II binding protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:6,788,713...6,841,824
Ensembl chrNW_004936529:6,788,187...6,841,888

G

transmembrane protein adipocyte associated 1

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

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

NCBI chrNW_004936798:770,836...777,802

G

thyrotropin releasing hormone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004936602:623,542...626,337
Ensembl chrNW_004936602:623,535...626,445

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 chrNW_004936798:1,190,975...1,231,732
Ensembl chrNW_004936798:1,203,418...1,230,988

G

ubiquitin like modifier activating enzyme 5

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004936529:5,997,459...6,010,776
Ensembl chrNW_004936529:5,996,707...6,014,227

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 chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141

G

WD repeat domain 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004936536:8,727,881...8,731,067
Ensembl chrNW_004936536:8,728,735...8,730,367

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 chrNW_004936725:6,968...89,762
Ensembl chrNW_004936725:6,962...83,034

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 chrNW_004936898:553,680...581,750

Refractory Anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 5

NCBI chrNW_004936594:2,812,165...2,820,618
Ensembl chrNW_004936594:2,812,238...2,820,636

G

fms related receptor tyrosine kinase 3 ligand

protein:increased expression:serum:

NCBI chrNW_004936664:3,343,541...3,351,590
Ensembl chrNW_004936664:3,343,491...3,350,176

G

homeostatic iron regulator

no_association

associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)
associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)

NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580

G

transcobalamin 2

protein:increased expression::

NCBI chrNW_004936904:97,535...113,886
Ensembl chrNW_004936904:95,542...113,985

G

telomerase reverse transcriptase

NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

Y-box binding protein 1

NCBI chrNW_004936474:24,026,459...24,047,724
Ensembl chrNW_004936474:24,026,377...24,047,724

Refractory Anemia with Excess of Blasts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 5

NCBI chrNW_004936594:2,812,165...2,820,618
Ensembl chrNW_004936594:2,812,238...2,820,636

G

complement C3

disease_progression

NCBI chrNW_004936588:3,985,732...4,023,221

G

complement factor B

disease_progression

NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215

G

telomerase reverse transcriptase

NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697

G

tet methylcytosine dioxygenase 2

disease_progression

NCBI chrNW_004936752:440,137...577,339
Ensembl chrNW_004936752:440,136...577,615

sideroblastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

CTD Direct Evidence: marker/mechanism

PMID:16892088 PMID:18398482 PMID:18637800

NCBI chrNW_004936683:1,224,703...1,326,761
Ensembl chrNW_004936683:1,222,450...1,326,765

G

aminolevulinate dehydratase

protein:decreased activity:kidney, liver, spleen

NCBI chrNW_004936559:226,481...237,258
Ensembl chrNW_004936559:226,424...241,684

G

5'-aminolevulinate synthase 2

susceptibility

DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism

PMID:7949148 PMID:16716198 PMID:16892088

NCBI chrNW_004936751:1,818,255...1,841,028
Ensembl chrNW_004936751:1,814,446...1,841,531

G

calreticulin

DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)

NCBI chrNW_004936659:1,994,695...1,999,070
Ensembl chrNW_004936659:1,994,648...1,999,430

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936596:2,854,620...2,857,018
Ensembl chrNW_004936596:2,854,841...2,857,111

G

heat shock protein family A (Hsp70) member 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936531:7,702,186...7,716,428
Ensembl chrNW_004936531:7,702,695...7,716,380

G

pseudouridine synthase 1

ClinVar Annotator: match by term: Sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chrNW_004936660:2,192,583...2,199,645
Ensembl chrNW_004936660:2,192,651...2,199,602

G

solute carrier family 25 member 38

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936473:28,602,920...28,621,024
Ensembl chrNW_004936473:28,603,445...28,621,355

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:16910769 PMID:21326867

NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781

G

transferrin receptor

mRNA,protein:increased expression:erythroblast:

NCBI chrNW_004936784:696,738...728,385
Ensembl chrNW_004936784:696,713...728,543

sideroblastic anemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5'-aminolevulinate synthase 2

onset

ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
DNA:mutations:exons:p.K299Q,A172T(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)

OMIM
ClinVar
RGD

PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More...

RGD:11035241 RGD:11035243

NCBI chrNW_004936751:1,818,255...1,841,028
Ensembl chrNW_004936751:1,814,446...1,841,531

G

apurinic/apyrimidinic endodeoxyribonuclease 2

ClinVar Annotator: match by term: Anemia, sideroblastic, 1

NCBI chrNW_004936751:1,807,867...1,817,780
Ensembl chrNW_004936751:1,807,867...1,819,272

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 chrNW_004936473:28,602,920...28,621,024
Ensembl chrNW_004936473:28,603,445...28,621,355

sideroblastic anemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HscB mitochondrial iron-sulfur cluster cochaperone

ClinVar Annotator: match by term: Anemia, sideroblastic, 5

PMID:25741868 PMID:32634119

NCBI chrNW_004936657:2,848,282...2,860,115

sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

PMID:2649490 PMID:3333257 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chrNW_004936577:2,814,464...2,834,068
Ensembl chrNW_004936577:2,814,390...2,832,790

splenic marginal zone lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79b molecule

protein:decreased expression:blood, B cell (human)

NCBI chrNW_004936541:4,534,233...4,537,448
Ensembl chrNW_004936541:4,534,246...4,537,590

Thrombocythemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic

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

NCBI chrNW_004936474:24,744,673...24,757,189
Ensembl chrNW_004936474:24,744,673...24,757,085

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 chrNW_004936503:67,933...78,496

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 chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867

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 chrNW_004936727:1,808,317...1,811,058
Ensembl chrNW_004936727:1,809,407...1,811,058

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

NCBI chrNW_004936659:1,994,695...1,999,070
Ensembl chrNW_004936659:1,994,648...1,999,430

G

carboxypeptidase B2

NCBI chrNW_004936857:577,067...609,855
Ensembl chrNW_004936857:577,585...626,267

G

erythropoietin receptor

NCBI chrNW_004936659:1,468,391...1,473,880
Ensembl chrNW_004936659:1,468,634...1,473,880

G

interleukin 1 beta

NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165

G

Janus kinase 2

associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F
essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :p.S755R, p.R938Q (human)

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

RGD:10449375 RGD:15039391 RGD:1627655

NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867

G

MPL proto-oncogene, thrombopoietin receptor

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

PMID:15813844 PMID:16484586 PMID:19036112

NCBI chrNW_004936474:24,744,673...24,757,189
Ensembl chrNW_004936474:24,744,673...24,757,085

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Thrombocytosis

NCBI chrNW_004936558:4,103,898...4,126,883
Ensembl chrNW_004936558:4,104,534...4,123,869

G

thrombopoietin

susceptibility

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

PMID:9694695 PMID:15813844 PMID:33122006

NCBI chrNW_004936578:5,508,669...5,515,984
Ensembl chrNW_004936578:5,509,111...5,515,103

Thrombocytosis, Benign Familial Microcytic

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:16199547 More...

NCBI chrNW_004936474:24,744,673...24,757,189
Ensembl chrNW_004936474:24,744,673...24,757,085

transient myeloproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

ClinVar Annotator: match by term: TRANSIENT ABNORMAL MYELOPOIESIS | ClinVar Annotator: match by term: Transient myeloproliferative syndrome

PMID:25741868 PMID:27993330 PMID:28492532

NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768

X-linked sideroblastic anemia with ataxia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

susceptibility

ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
DNA:missense mutation: :p.I400M (human)

OMIM
ClinVar
RGD

PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More...

NCBI chrNW_004936683:1,224,703...1,326,761
Ensembl chrNW_004936683:1,222,450...1,326,765

G

5'-aminolevulinate synthase 2

ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia

NCBI chrNW_004936751:1,818,255...1,841,028
Ensembl chrNW_004936751:1,814,446...1,841,531

Term paths to the root

Path 1
Term	Annotations
disease	14638
disease of anatomical entity	14327
hematopoietic system disease	3462
bone marrow disease	748
Bone Marrow Neoplasms	436
bone marrow cancer +	436
Path 2
Term	Annotations
disease	14638
disease of anatomical entity	14327
Hemic and Lymphatic Diseases	3900
hematopoietic system disease	3462
Hematologic Neoplasms	966
Bone Marrow Neoplasms	436
bone marrow cancer +	436

paths to the root