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 (13578) Chinchilla (440) Bonobo (476) Dog (473) Squirrel (436) Pig (464) Green Monkey (461) Naked Mole-rat (436) All
Genes (440)

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_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126

G

tumor protein p53

disease_progression

NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928

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_004955408:29,748,091...29,753,610
Ensembl chrNW_004955408:29,744,751...29,754,497

G

fms related receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955497:7,357,533...7,441,215
Ensembl chrNW_004955497:7,357,212...7,461,439

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:bone marrow cell:

NCBI chrNW_004955513:2,273,267...2,281,850
Ensembl chrNW_004955513:2,277,981...2,281,515

G

homeobox B9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955451:12,616,465...12,616,926

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527

G

nucleophosmin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955408:24,151,070...24,218,783

G

nucleoporin 98 and 96 precursor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955414:19,499,577...19,607,075
Ensembl chrNW_004955414:19,499,406...19,607,075

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928

alpha-thalassemia myelodysplasia syndrome

term browser

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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_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724

AMED syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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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_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899

atypical chronic myeloid leukemia, BCR-ABL1 negative

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

ASXL transcriptional regulator 1

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

NCBI chrNW_004955422:28,662,392...28,721,896
Ensembl chrNW_004955422:28,664,282...28,721,896

G

fibroblast growth factor receptor 1

NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111

G

major facilitator superfamily domain containing 11

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

NCBI chrNW_004955506:5,534,560...5,568,765
Ensembl chrNW_004955506:5,532,290...5,577,474

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955402:30,380,346...30,738,869
Ensembl chrNW_004955402:30,380,346...30,734,144

G

serine and arginine rich splicing factor 2

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

NCBI chrNW_004955506:5,569,280...5,572,164
Ensembl chrNW_004955506:5,569,302...5,570,120

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_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106

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_004955418:1,915,985...1,931,017
Ensembl chrNW_004955418:1,915,985...1,931,017

autosomal recessive pyridoxine-refractory sideroblastic anemia 2

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955438:17,067,017...17,076,162
Ensembl chrNW_004955438:17,066,955...17,075,789

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_004955420:29,988,147...29,996,485
Ensembl chrNW_004955420:29,988,147...29,996,486

autosomal recessive pyridoxine-refractory sideroblastic anemia 3

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin 5

ClinVar Annotator: match by term: Sideroblastic anemia 3

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

NCBI chrNW_004955438:17,067,017...17,076,162
Ensembl chrNW_004955438:17,066,955...17,075,789

Autosomal Sideroblastic Anemia

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

arylsulfatase A

ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia

NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771

Blast Crisis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955455:7,598,794...7,727,386
Ensembl chrNW_004955455:7,598,794...7,727,386

G

estrogen receptor 2

NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946

G

heme oxygenase 1

NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979

G

transcobalamin 2

protein:increased expression::

NCBI chrNW_004955455:4,827,030...4,849,810
Ensembl chrNW_004955455:4,826,694...4,849,613

Bone Marrow Failure Syndrome 1

term browser

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Object Name

Qualifiers

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_004955447:14,519,978...14,552,758
Ensembl chrNW_004955447:14,519,064...14,552,758

chronic myelogenous leukemia, BCR-ABL1 positive

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

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

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

NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239

G

BCR activator of RhoGEF and GTPase

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

PMID:25741868 PMID:28492532

NCBI chrNW_004955455:7,598,794...7,727,386
Ensembl chrNW_004955455:7,598,794...7,727,386

G

IKAROS family zinc finger 1

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

NCBI chrNW_004955456:3,617,988...3,721,791
Ensembl chrNW_004955456:3,635,380...3,721,791

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_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758

G

NRAS proto-oncogene, GTPase

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

NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103

G

splicing factor 3b subunit 1

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

NCBI chrNW_004955403:3,134,960...3,163,395
Ensembl chrNW_004955403:3,134,955...3,166,121

chronic myeloid leukemia

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

susceptibility
treatment

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

PMID:24581936 PMID:26250462

RGD:11081178 RGD:11081180

NCBI chrNW_004955432:4,911,774...5,085,349

G

ATP binding cassette subfamily C member 2

treatment

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

NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812

G

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

susceptibility
treatment

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

PMID:24123600 PMID:24581936 PMID:26250462

RGD:11081178 RGD:11081180 RGD:11081181

NCBI chrNW_004955474:12,365,903...12,408,715

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_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239

G

angiotensinogen

NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357

G

AKT serine/threonine kinase 1

protein:increased phosphorylation:blood

NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: therapeutic

PMID:19503090 PMID:19823023

NCBI chrNW_004955546:2,495,226...2,550,909
Ensembl chrNW_004955546:2,494,819...2,550,909

G

BCL2 like 1

NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174

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BCR activator of RhoGEF and GTPase

treatment
disease_progression
susceptibility

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

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

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

NCBI chrNW_004955455:7,598,794...7,727,386
Ensembl chrNW_004955455:7,598,794...7,727,386

G

basic helix-loop-helix ARNT like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955414:28,652,663...28,748,360
Ensembl chrNW_004955414:28,684,226...28,748,360

G

carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955472:619,084...625,570
Ensembl chrNW_004955472:619,245...625,051

G

caspase 6

treatment

human cells in mouse model

NCBI chrNW_004955496:575,839...584,287
Ensembl chrNW_004955496:577,832...584,287

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313

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CD40 molecule

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

NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093

G

cyclin dependent kinase inhibitor 1B

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

NCBI chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542

G

cysteine and histidine rich domain containing 1

OMIM:608232

NCBI chrNW_004955414:3,699,652...3,717,200
Ensembl chrNW_004955414:3,699,769...3,717,191

G

CRK like proto-oncogene, adaptor protein

protein:increased phosphorylation:blood

NCBI chrNW_004955442:19,358,202...19,388,552
Ensembl chrNW_004955442:19,358,081...19,388,815

G

cryptochrome circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955405:40,878,227...40,941,664
Ensembl chrNW_004955405:40,874,322...40,941,664

G

cryptochrome circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:2,084,020...2,114,980
Ensembl chrNW_004955422:2,083,138...2,115,072

G

DNA methyltransferase 1

disease_progression

NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462

G

DNA methyltransferase 3 alpha

disease_progression

NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059

G

DNA methyltransferase 3 beta

disease_progression

NCBI chrNW_004955422:28,380,595...28,427,012
Ensembl chrNW_004955422:28,380,591...28,421,301

G

E2F transcription factor 1

mRNA:increased expression:blood

NCBI chrNW_004955422:27,638,625...27,643,261
Ensembl chrNW_004955422:27,633,827...27,642,241

G

ERCC excision repair 2, TFIIH core complex helicase subunit

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

PMID:24955348 PMID:25311495

RGD:11060463 RGD:11252188

NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235

G

Fas cell surface death receptor

susceptibility

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

NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455

G

Fas ligand

susceptibility

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

NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389

G

fibroblast growth factor receptor 3

mRNA:increased expression:peripheral blood (human)

NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590

G

GRB2 associated binding protein 2

disease_progression

protein:increased expression:bone marrow

NCBI chrNW_004955414:13,640,713...13,754,401
Ensembl chrNW_004955414:13,679,588...13,751,079

G

glutathione peroxidase 1

no_association

DNA:polymorphism: :p.P198L (human)

NCBI chrNW_004955532:1,298,336...1,298,830

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428

G

hes family bHLH transcription factor 1

rat gene in a mouse model

NCBI chrNW_004955420:14,565,921...14,568,447
Ensembl chrNW_004955420:14,564,283...14,568,447

G

hyaluronan mediated motility receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955408:16,865,066...16,895,918
Ensembl chrNW_004955408:16,865,175...16,898,328

G

heme oxygenase 1

NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955419:3,055,420...3,060,208
Ensembl chrNW_004955419:3,055,420...3,062,131

G

interleukin 10

treatment

NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779

G

interleukin 1 beta

severity

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

G

interleukin 1 receptor antagonist

severity

NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471

G

cytochrome P450 1A1

treatment

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

NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488

G

mitogen-activated protein kinase 14

CTD Direct Evidence: therapeutic

NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083

G

MDM2 proto-oncogene

onset

DNA:SNP:promoter:rs2279744(human)

NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808

G

methylenetetrahydrofolate reductase

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

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

G

nicastrin

OMIM:608232

NCBI chrNW_004955468:12,111,078...12,126,404
Ensembl chrNW_004955468:12,111,078...12,127,033

G

NAD(P)H quinone dehydrogenase 1

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

NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:serum (human)

NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188

G

period circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955467:8,798,436...8,813,369
Ensembl chrNW_004955467:8,797,912...8,813,365

G

period circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955542:2,331,547...2,369,011
Ensembl chrNW_004955542:2,338,099...2,371,274

G

period circadian regulator 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955486:5,058,602...5,101,480
Ensembl chrNW_004955486:5,059,773...5,101,637

G

PRAME nuclear receptor transcriptional regulator

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

PMID:17157168 PMID:20838376

NCBI chrNW_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

NCBI chrNW_004955403:3,134,960...3,163,395
Ensembl chrNW_004955403:3,134,955...3,166,121

G

SH2B adaptor protein 3

OMIM:608232

NCBI chrNW_004955482:8,079,905...8,100,791
Ensembl chrNW_004955482:8,096,160...8,097,765

G

signal-induced proliferation-associated 1

OMIM:608232

NCBI chrNW_004955422:19,615,440...19,627,195
Ensembl chrNW_004955422:19,615,440...19,627,088

G

SMAD family member 4

mRNA:decreased expression:blood

NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538

G

serine and arginine rich splicing factor 1

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

NCBI chrNW_004955451:4,992,634...4,996,619
Ensembl chrNW_004955451:4,992,634...4,999,029

G

signal transducer and activator of transcription 5A

treatment
disease_progression

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

PMID:16522816 PMID:31952546

RGD:151667903 RGD:151667904

NCBI chrNW_004955451:16,305,363...16,319,219
Ensembl chrNW_004955451:16,305,363...16,318,534

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:15068898 PMID:17157168

NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589

G

transforming growth factor beta 1

protein:increased expression:serum

NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441

G

ubiquitin specific peptidase 15

mRNA, protein:decreased expression:PBMC (human)

NCBI chrNW_004955458:9,440,645...9,533,653
Ensembl chrNW_004955458:9,403,097...9,533,653

G

vascular endothelial growth factor A

susceptibility

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

NCBI chrNW_004955437:9,527,445...9,541,908

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839

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_004955422:28,662,392...28,721,896
Ensembl chrNW_004955422:28,664,282...28,721,896

G

cyclin dependent kinase inhibitor 2B

DNA:altered methylation:5'UTR:

NCBI chrNW_004955472:12,275,613...12,280,141
Ensembl chrNW_004955472:12,275,544...12,280,528

G

colony stimulating factor 3 receptor

disease_progression

DNA:mutations:multiples:

NCBI chrNW_004955452:14,409,484...14,425,818
Ensembl chrNW_004955452:14,411,708...14,422,187

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

DNA:mutations:multiple (human)

NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235

G

lysine demethylase 6A

NCBI chrNW_004955516:3,151,350...3,346,832
Ensembl chrNW_004955516:3,149,948...3,346,832

G

NRAS proto-oncogene, GTPase

onset

NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103

G

tet methylcytosine dioxygenase 2

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

NCBI chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106

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_004955452:14,409,484...14,425,818
Ensembl chrNW_004955452:14,411,708...14,422,187

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_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955484:4,699,743...4,713,466
Ensembl chrNW_004955484:4,699,722...4,713,466

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152

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_004955438:18,080,641...18,153,490
Ensembl chrNW_004955438:18,078,685...18,153,098

G

bradykinin receptor B1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chrNW_004955438:16,500,219...16,505,394
Ensembl chrNW_004955438:16,500,633...16,501,691

G

bradykinin receptor B2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chrNW_004955438:16,514,300...16,537,160
Ensembl chrNW_004955438:16,511,759...16,537,172

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_004955415:31,985,147...31,989,372
Ensembl chrNW_004955415:31,985,147...31,989,372

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313

G

CD40 ligand

protein:increased expression:serum (human)

NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chrNW_004955438:18,153,564...18,174,980
Ensembl chrNW_004955438:18,153,564...18,177,899

G

Janus kinase 2

severity

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

RGD
MouseDO
CTD

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

NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208

G

chromosome unknown open reading frame, human C14orf132

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chrNW_004955438:16,628,879...16,662,868
Ensembl chrNW_004955438:16,628,879...16,663,291

G

neutrophil elastase

protein:increased expression:plasma:

NCBI chrNW_004955495:6,964,577...6,967,208
Ensembl chrNW_004955495:6,964,667...6,967,106

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_004955537:2,922,156...2,937,223
Ensembl chrNW_004955537:2,922,156...2,937,223

G

MYB proto-oncogene, transcription factor

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

NCBI chrNW_004955439:1,523,516...1,560,185
Ensembl chrNW_004955439:1,521,292...1,560,220

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955460:8,328,400...8,346,755
Ensembl chrNW_004955460:8,326,891...8,346,550

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987

G

SH2B adaptor protein 3

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

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

NCBI chrNW_004955482:8,079,905...8,100,791
Ensembl chrNW_004955482:8,096,160...8,097,765

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chrNW_004955438:16,934,650...16,952,926

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441

G

thrombopoietin

ClinVar Annotator: match by term: Thrombocythemia 1

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

NCBI chrNW_004955420:23,120,828...23,128,894
Ensembl chrNW_004955420:23,123,637...23,129,198

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691

G

von Willebrand factor

NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571

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_004955541:973,004...988,493
Ensembl chrNW_004955541:973,022...990,106

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_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Familial myelofibrosis

NCBI chrNW_004955482:8,079,905...8,100,791
Ensembl chrNW_004955482:8,096,160...8,097,765

G

vacuolar protein sorting 45 homolog

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955413:615,510...680,564
Ensembl chrNW_004955413:614,018...680,564

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_004955494:3,161,032...3,321,974
Ensembl chrNW_004955494:3,160,653...3,334,411

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_004955420:26,342,129...26,446,959
Ensembl chrNW_004955420:26,343,649...26,441,736

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_004955439:10,241,298...10,262,416
Ensembl chrNW_004955439:10,238,664...10,263,081

G

Rho GTPase activating protein 26

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

NCBI chrNW_004955415:10,635,410...11,066,551
Ensembl chrNW_004955415:10,637,036...11,066,942

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_004955422:28,662,392...28,721,896
Ensembl chrNW_004955422:28,664,282...28,721,896

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_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539

G

colony stimulating factor 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:9389708 PMID:22315502

NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235

G

fms related receptor tyrosine kinase 3

OMIM:607785

NCBI chrNW_004955497:7,357,533...7,441,215
Ensembl chrNW_004955497:7,357,212...7,461,439

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955429:15,326,551...15,334,774
Ensembl chrNW_004955429:15,327,113...15,336,460

G

Janus kinase 3

disease_progression

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643

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_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758

G

neurofibromin 1

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179

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_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103

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_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203

G

Rac family small GTPase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955413:23,697,504...23,710,668
Ensembl chrNW_004955413:23,693,669...23,710,704

G

RAS related

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955559:1,244,658...1,248,774
Ensembl chrNW_004955559:1,244,658...1,248,774

G

RAS related 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955414:29,482,502...29,546,102
Ensembl chrNW_004955414:29,481,343...29,493,070

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:23832011 PMID:26457647

NCBI chrNW_004955402:30,380,346...30,738,869
Ensembl chrNW_004955402:30,380,346...30,734,144

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955482:8,079,905...8,100,791
Ensembl chrNW_004955482:8,096,160...8,097,765

G

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

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955519:2,377,955...2,402,446
Ensembl chrNW_004955519:2,378,246...2,394,561

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_004955432:10,007,631...10,028,989
Ensembl chrNW_004955432:10,007,936...10,012,693

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_004955432:9,957,521...9,972,622
Ensembl chrNW_004955432:9,957,677...9,962,389

multiple myeloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

treatment

PMID:16917002 PMID:26314844

RGD:11081075 RGD:11081144

NCBI chrNW_004955474:12,365,903...12,408,715

G

albumin

disease_progression

NCBI chrNW_004955447:9,327...21,212

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955478:11,104,445...11,128,980
Ensembl chrNW_004955478:11,105,920...11,128,222

G

apolipoprotein E

treatment

NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955466:12,017,588...12,087,667

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955445:2,831,073...2,853,151
Ensembl chrNW_004955445:2,831,157...2,853,357

G

beta-2-microglobulin

ClinVar Annotator: match by term: Myelomatosis

NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955457:1,187,942...1,258,475
Ensembl chrNW_004955457:1,187,942...1,253,803

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485

G

BCL2 like 1

CTD Direct Evidence: marker/mechanism

PMID:12429644 PMID:14656874

NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174

G

BCL6 corepressor like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955473:4,990,974...5,054,829
Ensembl chrNW_004955473:4,989,366...5,054,925

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955477:9,621,812...9,630,406
Ensembl chrNW_004955477:9,621,812...9,638,099

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_004955494:2,567,238...2,712,708

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_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955405:29,206,889...29,209,407
Ensembl chrNW_004955405:29,206,889...29,209,407

G

Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539

G

chromobox 7

susceptibility

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

NCBI chrNW_004955413:25,079,627...25,100,039
Ensembl chrNW_004955413:25,086,186...25,100,039

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_004955423:8,416,498...8,419,029
Ensembl chrNW_004955423:8,413,725...8,419,166

G

cyclin D1

susceptibility

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

ClinVar
RGD
OMIM

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

NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300

G

cyclin D2

NCBI chrNW_004955413:2,083,351...2,108,450
Ensembl chrNW_004955413:2,083,351...2,103,430

G

cyclin D3

NCBI chrNW_004955437:8,266,523...8,273,855
Ensembl chrNW_004955437:8,268,118...8,273,855

G

CD40 molecule

treatment

human cells in a mouse model

NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093

G

CD40 ligand

disease_progression
treatment

protein:increased expression:serum (human)

PMID:15565183 PMID:22403003 PMID:27243341

RGD:11352240 RGD:11352251 RGD:11352268

NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746

G

CD46 molecule

protein:increased expression:plasma cell (human)

NCBI chrNW_004955406:43,002,817...43,034,555

G

CD86 molecule

severity

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

PMID:16611307 PMID:22705596

NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874

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_004955458:5,457,927...5,460,718
Ensembl chrNW_004955458:5,453,732...5,460,718

G

cyclin dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955464:8,022,596...8,028,241
Ensembl chrNW_004955464:8,021,887...8,028,241

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020

G

cereblon

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955421:10,166,927...10,190,470
Ensembl chrNW_004955421:10,166,962...10,189,916

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955433:8,788,867...8,845,925
Ensembl chrNW_004955433:8,788,655...8,845,925

G

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

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955404:33,897,681...33,924,069
Ensembl chrNW_004955404:33,897,237...33,924,069

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059

G

desmoglein 2

disease_progression

NCBI chrNW_004955402:18,826,400...18,876,188

G

eukaryotic translation initiation factor 1A X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955509:577,975...594,028
Ensembl chrNW_004955509:577,975...594,028

G

endoglin

severity

protein:increased expression:serum:

NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694

G

epoxide hydrolase 1

susceptibility
no_association

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

PMID:16949155 PMID:19736056 PMID:24521996

RGD:11252116 RGD:11252121 RGD:11252122

NCBI chrNW_004955520:116,363...142,983
Ensembl chrNW_004955520:116,363...128,665

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582

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_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599

G

ETS2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955555:654,945...661,097
Ensembl chrNW_004955555:654,414...665,277

G

Fas ligand

disease_progression

NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211

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_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590

G

fibrinogen gamma chain

treatment

NCBI chrNW_004955471:8,786,910...8,794,947
Ensembl chrNW_004955471:8,786,910...8,795,013

G

fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955497:7,357,533...7,441,215
Ensembl chrNW_004955497:7,357,212...7,461,439

G

fms related receptor tyrosine kinase 3 ligand

disease_progression

protein:increased expression:serum:

NCBI chrNW_004955559:1,364,056...1,371,245
Ensembl chrNW_004955559:1,365,938...1,370,002

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

NCBI chrNW_004955433:11,424,069...11,834,955
Ensembl chrNW_004955433:11,424,176...11,813,771

G

glutathione peroxidase 1

NCBI chrNW_004955532:1,298,336...1,298,830

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032

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_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428

G

H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955483:870,957...871,724

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210

G

homeostatic iron regulator

susceptibility

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

NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143

G

hexokinase 1

NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324

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_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

PMID:7686390 PMID:7834632

RGD:11354981 RGD:11520780

NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755

G

insulin like growth factor 2 receptor

protein:increased expression:serum,urine:

NCBI chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281

G

interleukin 10

disease_progression

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

PMID:11022130 PMID:11307152

RGD:11041888 RGD:11049458

NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779

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_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466

G

interleukin 1 beta

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

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

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_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471

G

interleukin 4 receptor

susceptibility

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

NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chrNW_004955410:25,079,835...25,084,390

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955426:20,785,896...20,818,512
Ensembl chrNW_004955426:20,787,471...20,818,577

G

interferon regulatory factor 4

treatment
disease_progression

CTD Direct Evidence: marker/mechanism
DNA:translocation

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

RGD:11526161 RGD:11530019 RGD:11530055

NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106

G

interferon regulatory factor 8

DNA:hypermethylation

NCBI chrNW_004955541:973,004...988,493
Ensembl chrNW_004955541:973,022...990,106

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955475:243,666...278,064
Ensembl chrNW_004955475:243,666...278,627

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955491:6,245,408...6,420,535
Ensembl chrNW_004955491:6,247,249...6,402,470

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067

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_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955439:11,559,655...11,611,287
Ensembl chrNW_004955439:11,559,657...11,611,660

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_004955404:3,606,077...3,615,193
Ensembl chrNW_004955404:3,606,077...3,615,193

G

cytochrome P450 1A1

susceptibility

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

NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488

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_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700

G

MAF bZIP transcription factor

OMIM:254500

NCBI chrNW_004955522:2,514,313...2,519,694

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955413:238,043...243,317

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647

G

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

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955428:21,475,981...21,507,730
Ensembl chrNW_004955428:21,475,981...21,507,730

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955550:2,211,270...2,227,715
Ensembl chrNW_004955550:2,211,270...2,227,715

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955416:8,416,236...8,566,371
Ensembl chrNW_004955416:8,471,134...8,563,842

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955532:1,774,726...1,789,662
Ensembl chrNW_004955532:1,775,033...1,787,990

G

methylenetetrahydrofolate reductase

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

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

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

NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955545:1,657,728...1,662,112

G

nuclear receptor corepressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955482:4,927,482...5,031,848
Ensembl chrNW_004955482:4,942,221...5,031,904

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179

G

NFKB inhibitor alpha

DNA:polymorphism

PMID:12377412 PMID:16540234

RGD:2298895 RGD:2298898

NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955409:24,612,490...24,616,360
Ensembl chrNW_004955409:24,612,635...24,616,430

G

non-POU domain containing octamer binding

exacerbates

mRNA:increased expression: (human)

NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519

G

notch receptor 2

protein:increased expression:bone marrow (human)

NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173

G

NADPH oxidase 1

protein:increased expression:serum

NCBI chrNW_004955503:6,973,965...7,020,182
Ensembl chrNW_004955503:6,974,239...6,997,618

G

NAD(P)H quinone dehydrogenase 1

no_association

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

PMID:16949155 PMID:18061666 PMID:18156703

RGD:10755419 RGD:10769348

NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604

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_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955405:40,156,316...40,188,144
Ensembl chrNW_004955405:40,153,747...40,188,145

G

P2Y receptor family member 8

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955499:1,062,233...1,064,588

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955524:3,234,111...3,241,445
Ensembl chrNW_004955524:3,234,111...3,241,173

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

NCBI chrNW_004955450:3,654,854...3,692,057
Ensembl chrNW_004955450:3,656,498...3,692,406

G

RNA polymerase I subunit G

sexual_dimorphism

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

NCBI chrNW_004955555:2,389,569...2,393,410
Ensembl chrNW_004955555:2,391,106...2,393,369

G

paraoxonase 1

susceptibility
treatment
severity

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

PMID:15136237 PMID:22348216 PMID:25520116

RGD:10450846 RGD:11040544 RGD:11552578

NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339

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_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955409:37,369,507...37,378,034
Ensembl chrNW_004955409:37,369,234...37,378,093

G

psoriasis susceptibility 1 candidate 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955583:975,037...977,944
Ensembl chrNW_004955583:974,890...976,777

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955505:6,834,533...6,846,909
Ensembl chrNW_004955505:6,834,533...6,847,335

G

RAN binding protein 2

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

NCBI chrNW_004955470:12,180,426...12,247,737
Ensembl chrNW_004955470:12,180,544...12,249,555

G

RB binding protein 8, endonuclease

exacerbates

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

NCBI chrNW_004955402:11,245,857...11,331,872
Ensembl chrNW_004955402:11,245,819...11,335,367

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

NCBI chrNW_004955508:6,046,738...6,072,202
Ensembl chrNW_004955508:6,046,316...6,072,288

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955454:3,136,097...3,142,525
Ensembl chrNW_004955454:3,136,216...3,142,422

G

roundabout guidance receptor 1

ameliorates

NCBI chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053

G

RUNX family transcription factor 1

mRNA:splice variant

NCBI chrNW_004955407:34,108,653...34,342,657
Ensembl chrNW_004955407:34,104,035...34,342,928

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955513:3,313,544...3,386,544
Ensembl chrNW_004955513:3,335,897...3,386,994

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955422:24,714,103...24,780,672
Ensembl chrNW_004955422:24,735,161...24,778,830

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955439:2,399,992...2,406,587
Ensembl chrNW_004955439:2,290,035...2,406,587

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955482:8,079,905...8,100,791
Ensembl chrNW_004955482:8,096,160...8,097,765

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163

G

secreted protein acidic and cysteine rich

disease_progression

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

PMID:18172295 PMID:23699600

NCBI chrNW_004955408:6,100,123...6,122,460
Ensembl chrNW_004955408:6,099,003...6,122,459

G

secreted phosphoprotein 1

NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487

G

telomerase reverse transcriptase

NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955424:11,612,124...11,722,130
Ensembl chrNW_004955424:11,617,993...11,714,203

G

transferrin receptor

treatment

NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691

G

transforming growth factor beta 1

disease_progression

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

PMID:22560388 PMID:23699600

RGD:11073605 RGD:11073614

NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441

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_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955577:930,612...971,698

G

TNF receptor superfamily member 17

NCBI chrNW_004955442:6,626,434...6,651,193
Ensembl chrNW_004955442:6,626,399...6,629,931

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117

G

tumor protein p53

disease_progression
treatment

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

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

RGD:11073716 RGD:11073728 RGD:11075073

NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955421:10,192,065...10,211,527
Ensembl chrNW_004955421:10,189,469...10,211,434

G

thymidylate synthetase

treatment
no_association

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

PMID:17512053 PMID:17655928

RGD:11075094 RGD:11075095

NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955420:28,633,011...29,031,161
Ensembl chrNW_004955420:28,633,726...29,028,025

G

vascular endothelial growth factor A

susceptibility

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

NCBI chrNW_004955437:9,527,445...9,541,908

G

exportin 5

severity

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

NCBI chrNW_004955437:9,351,045...9,392,396
Ensembl chrNW_004955437:9,351,045...9,392,396

G

X-ray repair cross complementing 3

disease_progression

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

NCBI chrNW_004955538:2,499,297...2,511,898
Ensembl chrNW_004955538:2,501,607...2,509,778

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

NCBI chrNW_004955418:27,174,510...27,426,245
Ensembl chrNW_004955418:27,173,659...27,426,264

G

X-ray repair cross complementing 5

susceptibility

DNA:SNP:3'-UTR (human)

NCBI chrNW_004955453:16,967,453...17,054,634
Ensembl chrNW_004955453:16,967,453...17,054,634

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chrNW_004955412:5,423,866...5,533,728
Ensembl chrNW_004955412:5,423,855...5,534,408

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955528:935,182...951,722
Ensembl chrNW_004955528:935,182...951,722

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955438:21,341,374...21,377,674

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_004955408:3,336,214...3,391,117
Ensembl chrNW_004955408:3,333,392...3,392,141

G

actin related protein 2/3 complex subunit 1B

treatment

NCBI chrNW_004955460:15,055,753...15,069,093
Ensembl chrNW_004955460:15,055,480...15,069,093

G

ASXL transcriptional regulator 1

disease_progression
treatment

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

OMIM
ClinVar
RGD

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

RGD:11038707 RGD:11038769

NCBI chrNW_004955422:28,662,392...28,721,896
Ensembl chrNW_004955422:28,664,282...28,721,896

G

autophagy related 7

OMIM:614286

NCBI chrNW_004955429:14,076,976...14,301,034
Ensembl chrNW_004955429:14,076,960...14,304,236

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724

G

BRCA1 associated deubiquitinase 1

OMIM:614286

NCBI chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955429:6,548,586...6,553,730
Ensembl chrNW_004955429:6,547,731...6,558,105

G

CD40 molecule

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

NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093

G

cyclin dependent kinase inhibitor 1B

DNA:deletion: :

NCBI chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542

G

cyclin dependent kinase inhibitor 2B

disease_progression
treatment

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

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

RGD:11251750 RGD:11252169 RGD:11252195

NCBI chrNW_004955472:12,275,613...12,280,141
Ensembl chrNW_004955472:12,275,544...12,280,528

G

CASP8 and FADD like apoptosis regulator

CTD Direct Evidence: marker/mechanism

PMID:14562111 PMID:16105982

NCBI chrNW_004955403:415,092...442,214
Ensembl chrNW_004955403:412,632...434,741

G

CREB binding protein

OMIM:614286

NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004

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_004955452:14,409,484...14,425,818
Ensembl chrNW_004955452:14,411,708...14,422,187

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955418:1,592,555...1,754,423
Ensembl chrNW_004955418:1,592,229...1,754,689

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955432:29,925...254,327
Ensembl chrNW_004955432:29,197...254,379

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_004955408:29,748,091...29,753,610
Ensembl chrNW_004955408:29,744,751...29,754,497

G

DEAD-box helicase 42

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

NCBI chrNW_004955478:8,009,155...8,052,990
Ensembl chrNW_004955478:8,010,056...8,041,449

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955627:37,886...43,730
Ensembl chrNW_004955627:38,128...43,728

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462

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_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059

G

DNA methyltransferase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:28,380,595...28,427,012
Ensembl chrNW_004955422:28,380,591...28,421,301

G

early growth response 1

OMIM:614286

NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007

G

erythropoietin

CTD Direct Evidence: therapeutic

PMID:12670338 PMID:16076383

NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355

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_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379

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_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599

G

ETS variant transcription factor 6

DNA:translocation: :
DNA:deletion: :

PMID:9171997 PMID:12203785 PMID:18476590

RGD:10450601 RGD:10450605 RGD:1581019

NCBI chrNW_004955413:8,698,412...8,912,011
Ensembl chrNW_004955413:8,698,415...8,909,299

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

PMID:20601954 PMID:21125401 PMID:22869879

RGD:10450880 RGD:10450887

NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235

G

Fas cell surface death receptor

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

PMID:9557605 PMID:15686130

RGD:11049447 RGD:11049448

NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455

G

Fas ligand

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

PMID:9557605 PMID:15686130

RGD:11049447 RGD:11049448

NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389

G

fms related receptor tyrosine kinase 3

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

NCBI chrNW_004955497:7,357,533...7,441,215
Ensembl chrNW_004955497:7,357,212...7,461,439

G

GATA binding protein 1

severity
disease_progression

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

RGD
MouseDO
CTD

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

RGD:10450734 RGD:10450752 RGD:10450753

NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061

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_004955429:15,326,551...15,334,774
Ensembl chrNW_004955429:15,327,113...15,336,460

G

growth factor independent 1 transcriptional repressor

mRNA:decreased expression:bone marrow:

NCBI chrNW_004955423:2,024,084...2,032,530
Ensembl chrNW_004955423:2,022,417...2,033,149

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_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066

G

glutathione S-transferase pi 1

susceptibility

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

NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955452:10,636,366...10,668,873
Ensembl chrNW_004955452:10,636,366...10,670,864

G

homeostatic iron regulator

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

PMID:12624489 PMID:17001480

NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143

G

isocitrate dehydrogenase (NADP(+)) 1

disease_progression

DNA:mutation: :

NCBI chrNW_004955457:6,851,542...6,869,452
Ensembl chrNW_004955457:6,851,517...6,872,367

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_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363

G

interleukin 1 beta

mRNA:increased expression:bone marrow

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Myelodysplasia

PMID:25741868 PMID:28492532

NCBI chrNW_004955421:22,642,004...22,694,729
Ensembl chrNW_004955421:22,641,511...22,694,913

G

integrin subunit beta 3

NCBI chrNW_004955478:9,788,192...9,830,254
Ensembl chrNW_004955478:9,788,149...9,823,746

G

lysine methyltransferase 2E (inactive)

NCBI chrNW_004955410:9,714,587...9,808,021

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758

G

leucine rich repeat containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955406:38,274,998...38,381,677
Ensembl chrNW_004955406:38,274,958...38,383,822

G

core histone macro-H2A.1

OMIM:614286

NCBI chrNW_004955408:30,497,531...30,550,095
Ensembl chrNW_004955408:30,497,531...30,550,118

G

LYL1 basic helix-loop-helix family member

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955415:32,121,808...32,124,730
Ensembl chrNW_004955415:32,121,808...32,124,730

G

MDM2 proto-oncogene

no_association

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

NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645

G

MYB proto-oncogene like 2

OMIM:614286

NCBI chrNW_004955445:13,496,919...13,530,689
Ensembl chrNW_004955445:13,496,919...13,530,689

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982

G

nucleophosmin 1

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

PMID:15659725 PMID:20026798 PMID:32581362

NCBI chrNW_004955408:24,151,070...24,218,783

G

NAD(P)H quinone dehydrogenase 1

no_association

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

NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604

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_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103

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_004955415:18,210,608...18,915,099
Ensembl chrNW_004955415:18,210,662...18,915,158

G

prostate transmembrane protein, androgen induced 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955445:1,837,084...1,847,214
Ensembl chrNW_004955445:1,837,062...1,847,214

G

DNA polymerase gamma, catalytic subunit

OMIM:614286

NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651

G

PRAME nuclear receptor transcriptional regulator

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

NCBI chrNW_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537

G

RAP1 GTPase activating protein

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

NCBI chrNW_004955452:1,886,557...1,950,942
Ensembl chrNW_004955452:1,886,557...1,933,977

G

RUNX family transcription factor 1

disease_progression

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

NCBI chrNW_004955407:34,108,653...34,342,657
Ensembl chrNW_004955407:34,104,035...34,342,928

G

sterile alpha motif domain containing 9

ClinVar Annotator: match by term: Myelodysplastic syndrome

PMID:28492532 PMID:30046003 PMID:37160314

NCBI chrNW_004955432:9,957,521...9,972,622
Ensembl chrNW_004955432:9,957,677...9,962,389

G

sterile alpha motif domain containing 9 like

OMIM:614286

NCBI chrNW_004955432:10,007,631...10,028,989
Ensembl chrNW_004955432:10,007,936...10,012,693

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_004955403:3,134,960...3,163,395
Ensembl chrNW_004955403:3,134,955...3,166,121

G

sphingomyelin phosphodiesterase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955484:8,207,686...8,298,164
Ensembl chrNW_004955484:8,272,572...8,298,144

G

sphingosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955506:5,902,079...5,906,639
Ensembl chrNW_004955506:5,902,345...5,904,988

G

serine and arginine rich splicing factor 11

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

NCBI chrNW_004955423:21,669,925...21,706,260
Ensembl chrNW_004955423:21,669,471...21,706,327

G

serine and arginine rich splicing factor 2

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

NCBI chrNW_004955506:5,569,280...5,572,164
Ensembl chrNW_004955506:5,569,302...5,570,120

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955473:10,620,264...10,765,806
Ensembl chrNW_004955473:10,626,626...10,709,167

G

telomerase reverse transcriptase

severity

ClinVar Annotator: match by term: Myelodysplasia

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

NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589

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_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258

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_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

G

tumor protein p53

treatment
disease_progression
no_association

DNA:mutations: :
CTD Direct Evidence: marker/mechanism
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_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928

G

U2 small nuclear RNA auxiliary factor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955407:38,895,741...38,909,820
Ensembl chrNW_004955407:38,895,711...38,909,820

G

X-ray repair cross complementing 1

no_association

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

NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839

G

zinc finger protein, FOG family member 2

NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271

G

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

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

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

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

NCBI chrNW_004955519:2,377,955...2,402,446
Ensembl chrNW_004955519:2,378,246...2,394,561

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_004955528:1,153,181...1,207,346
Ensembl chrNW_004955528:1,162,836...1,207,596

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:20601953 PMID:24218139

NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235

myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

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

PMID:21712540 PMID:23619563

RGD:11038705 RGD:11038768

NCBI chrNW_004955422:28,662,392...28,721,896
Ensembl chrNW_004955422:28,664,282...28,721,896

G

autophagy related 2B

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004955438:18,080,641...18,153,490
Ensembl chrNW_004955438:18,078,685...18,153,098

G

bradykinin receptor B1

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004955438:16,500,219...16,505,394
Ensembl chrNW_004955438:16,500,633...16,501,691

G

bradykinin receptor B2

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004955438:16,514,300...16,537,160
Ensembl chrNW_004955438:16,511,759...16,537,172

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_004955415:31,985,147...31,989,372
Ensembl chrNW_004955415:31,985,147...31,989,372

G

ERCC excision repair 1, endonuclease non-catalytic subunit

NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

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

NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599

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_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235

G

fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:multiple:

NCBI chrNW_004955497:7,357,533...7,441,215
Ensembl chrNW_004955497:7,357,212...7,461,439

G

fms related receptor tyrosine kinase 3 ligand

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

NCBI chrNW_004955559:1,364,056...1,371,245
Ensembl chrNW_004955559:1,365,938...1,370,002

G

GATA binding protein 1

OMIM:254450

NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061

G

GSK3B interacting protein

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004955438:18,153,564...18,174,980
Ensembl chrNW_004955438:18,153,564...18,177,899

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_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143

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_004955434:9,349,033...9,355,817
Ensembl chrNW_004955434:9,349,142...9,355,739

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_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208

G

lysine methyltransferase 2A

exacerbates

DNA:mutations:multiple (human)

NCBI chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527

G

chromosome unknown open reading frame, human C14orf132

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004955438:16,628,879...16,662,868
Ensembl chrNW_004955438:16,628,879...16,663,291

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_004955537:2,922,156...2,937,223
Ensembl chrNW_004955537:2,922,156...2,937,223

G

MYB proto-oncogene, transcription factor

OMIM:254450

NCBI chrNW_004955439:1,523,516...1,560,185
Ensembl chrNW_004955439:1,521,292...1,560,220

G

nuclear receptor corepressor 2

OMIM:254450

NCBI chrNW_004955482:4,927,482...5,031,848
Ensembl chrNW_004955482:4,942,221...5,031,904

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_004955482:8,079,905...8,100,791
Ensembl chrNW_004955482:8,096,160...8,097,765

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:25741868 PMID:26936507 PMID:32581362

NCBI chrNW_004955445:19,213,210...19,227,670
Ensembl chrNW_004955445:19,215,161...19,228,695

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chrNW_004955438:16,934,650...16,952,926

G

transforming growth factor beta 1

treatment

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

NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441

G

tumor protein p53

disease_progression

associated with Myelodysplastic Syndromes;

NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928

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_004955429:17,444,031...17,468,024
Ensembl chrNW_004955429:17,444,622...17,468,050

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_004955429:6,548,586...6,553,730
Ensembl chrNW_004955429:6,547,731...6,558,105

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_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239

G

BCR activator of RhoGEF and GTPase

disease_progression

NCBI chrNW_004955455:7,598,794...7,727,386
Ensembl chrNW_004955455:7,598,794...7,727,386

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs11615 (human)

NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582

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_004955423:2,024,084...2,032,530
Ensembl chrNW_004955423:2,022,417...2,033,149

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chrNW_004955513:2,273,267...2,281,850
Ensembl chrNW_004955513:2,277,981...2,281,515

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_004955438:18,080,641...18,153,490
Ensembl chrNW_004955438:18,078,685...18,153,098

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955455:7,598,794...7,727,386
Ensembl chrNW_004955455:7,598,794...7,727,386

G

calreticulin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955415:31,985,147...31,989,372
Ensembl chrNW_004955415:31,985,147...31,989,372

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_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, plasma membrane

NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313

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_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059

G

early growth response 1

NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chrNW_004955413:8,698,412...8,912,011
Ensembl chrNW_004955413:8,698,415...8,909,299

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235

G

coagulation factor III, tissue factor

treatment

NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159

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_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111

G

FGFR1 oncogene partner 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955413:21,814,133...21,843,105
Ensembl chrNW_004955413:21,814,278...21,844,232

G

fms related receptor tyrosine kinase 3

NCBI chrNW_004955497:7,357,533...7,441,215
Ensembl chrNW_004955497:7,357,212...7,461,439

G

growth factor independent 1 transcriptional repressor

NCBI chrNW_004955423:2,024,084...2,032,530
Ensembl chrNW_004955423:2,022,417...2,033,149

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chrNW_004955513:2,273,267...2,281,850
Ensembl chrNW_004955513:2,277,981...2,281,515

G

glutathione peroxidase 1

DNA:polymorphism: :p.P198L (human)

NCBI chrNW_004955532:1,298,336...1,298,830

G

GSK3B interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955438:18,153,564...18,174,980
Ensembl chrNW_004955438:18,153,564...18,177,899

G

heat shock protein family A (Hsp70) member 5

NCBI chrNW_004955419:3,055,420...3,060,208
Ensembl chrNW_004955419:3,055,420...3,062,131

G

insulin like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666

G

insulin like 6

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chrNW_004955434:9,349,033...9,355,817
Ensembl chrNW_004955434:9,349,142...9,355,739

G

interferon regulatory factor 4

NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106

G

interferon regulatory factor 8

NCBI chrNW_004955541:973,004...988,493
Ensembl chrNW_004955541:973,022...990,106

G

Janus kinase 2

no_association
severity

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

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

RGD:10449376 RGD:10449393

NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208

G

KRAS proto-oncogene, GTPase

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

NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758

G

MDS1 and EVI1 complex locus

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

PMID:9044825 PMID:29047144

NCBI chrNW_004955448:18,259,847...18,542,085
Ensembl chrNW_004955448:18,259,083...18,439,646

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955537:2,922,156...2,937,223
Ensembl chrNW_004955537:2,922,156...2,937,223

G

methylenetetrahydrofolate reductase

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

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

G

nucleophosmin 1

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

NCBI chrNW_004955408:24,151,070...24,218,783

G

NAD(P)H quinone dehydrogenase 1

NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604

G

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

NCBI chrNW_004955465:10,186,928...10,200,098
Ensembl chrNW_004955465:10,186,928...10,200,237

G

NRAS proto-oncogene, GTPase

disease_progression

NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928

G

zinc finger MYM-type containing 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955497:778,641...895,376
Ensembl chrNW_004955497:778,154...897,680

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_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587

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_004955422:28,662,392...28,721,896
Ensembl chrNW_004955422:28,664,282...28,721,896

G

colony stimulating factor 3 receptor

NCBI chrNW_004955452:14,409,484...14,425,818
Ensembl chrNW_004955452:14,411,708...14,422,187

G

cut like homeobox 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm

NCBI chrNW_004955456:15,292,562...15,636,835
Ensembl chrNW_004955456:15,276,959...15,638,004

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_004955408:29,748,091...29,753,610
Ensembl chrNW_004955408:29,744,751...29,754,497

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chrNW_004955413:8,698,412...8,912,011
Ensembl chrNW_004955413:8,698,415...8,909,299

G

inositol-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:35101336

NCBI chrNW_004955489:726,641...814,180
Ensembl chrNW_004955489:725,759...814,180

G

Janus kinase 2

NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208

G

neurofibromin 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179

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_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259

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_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373

G

platelet derived growth factor receptor beta

DNA:translocation: :

NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829

G

transcription factor 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487

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_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106

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_004955505:3,025,742...3,081,491
Ensembl chrNW_004955505:3,023,018...3,081,680

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_004955482:749,265...756,964
Ensembl chrNW_004955482:748,394...756,747

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_004955505:3,004,084...3,011,003
Ensembl chrNW_004955505:3,004,146...3,010,735

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_004955482:749,265...756,964
Ensembl chrNW_004955482:748,394...756,747

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_004955505:3,025,742...3,081,491
Ensembl chrNW_004955505:3,023,018...3,081,680

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_004955505:3,004,084...3,011,003
Ensembl chrNW_004955505:3,004,146...3,010,735

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

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

NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539

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_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203

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_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697

G

C-X-C motif chemokine receptor 4

treatment

NCBI chrNW_004955440:3,456,165...3,460,024
Ensembl chrNW_004955440:3,455,153...3,460,109

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_004955519:2,852,605...2,865,848
Ensembl chrNW_004955519:2,852,555...2,867,600

G

phosphatidylinositol glycan anchor biosynthesis class T

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955445:11,916,898...11,925,578
Ensembl chrNW_004955445:11,915,225...11,925,820

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_004955519:2,852,605...2,865,848
Ensembl chrNW_004955519:2,852,555...2,867,600

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chrNW_004955445:11,916,898...11,925,578
Ensembl chrNW_004955445:11,915,225...11,925,820

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_004955445:11,916,898...11,925,578
Ensembl chrNW_004955445:11,915,225...11,925,820

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093

G

telomerase reverse transcriptase

NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589

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_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545

G

BCL2 like 1

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

NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313

G

erythropoietin receptor

mRNA:decreased expression:blood cell:

NCBI chrNW_004955495:2,293,587...2,299,302
Ensembl chrNW_004955495:2,293,540...2,298,715

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583

G

hemoglobin subunit beta

ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF

PMID:2816924 PMID:11300351 PMID:19429541 PMID:26467025 PMID:31553106

NCBI chrNW_004955414:21,188,012...21,189,363

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_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143

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_004955434:9,349,033...9,355,817
Ensembl chrNW_004955434:9,349,142...9,355,739

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_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208

G

neutrophil elastase

protein:increased expression:plasma:

PMID:12186827 PMID:18768782

RGD:10450556 RGD:10450557

NCBI chrNW_004955495:6,964,577...6,967,208
Ensembl chrNW_004955495:6,964,667...6,967,106

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_004955429:15,964,584...15,968,604
Ensembl chrNW_004955429:15,964,908...15,968,525

G

acyl-CoA dehydrogenase family member 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:5,871,328...5,952,786
Ensembl chrNW_004955501:5,871,113...5,952,909

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_004955450:10,576,615...10,603,779

G

atypical chemokine receptor 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:5,922,727...5,928,735
Ensembl chrNW_004955501:5,922,734...5,928,735

G

acid phosphatase 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:6,168,083...6,218,934
Ensembl chrNW_004955501:6,164,152...6,218,967

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_004955421:21,420,264...21,506,004
Ensembl chrNW_004955421:21,420,147...21,527,037

G

angiomotin like 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:4,192,339...4,209,150
Ensembl chrNW_004955501:4,192,063...4,211,562

G

anaphase promoting complex subunit 13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:4,096,026...4,103,212
Ensembl chrNW_004955501:4,096,026...4,103,212

G

arginine-fifty homeobox

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:20,965,012...20,969,269

G

asteroid homolog 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:7,373,713...7,383,092

G

ATPase secretory pathway Ca2+ transporting 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chrNW_004955501:7,382,657...7,519,789
Ensembl chrNW_004955501:7,383,150...7,519,988

G

beaded filament structural protein 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:5,083,456...5,145,256
Ensembl chrNW_004955501:5,083,456...5,145,256

G

calcium sensing receptor

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210

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_004955427:23,043,001...23,095,201
Ensembl chrNW_004955427:23,042,648...23,095,151

G

CD86 molecule

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874

G

CDV3 homolog

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:4,984,239...4,999,414
Ensembl chrNW_004955501:4,981,664...4,999,745

G

centrosomal protein 63

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:4,032,281...4,095,990
Ensembl chrNW_004955501:4,032,223...4,095,970

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_004955421:21,652,655...21,685,866
Ensembl chrNW_004955421:21,652,750...21,685,770

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_004955450:10,532,347...10,593,351

G

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

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

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

NCBI chrNW_004955429:16,546,397...16,786,139
Ensembl chrNW_004955429:16,546,352...16,786,632

G

carbohydrate sulfotransferase 13

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

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

NCBI chrNW_004955421:21,770,083...21,787,563

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_004955429:13,537,222...13,582,026
Ensembl chrNW_004955429:13,537,222...13,549,520

G

collagen type VI alpha 6 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chrNW_004955501:7,683,344...7,816,859
Ensembl chrNW_004955501:7,685,029...7,775,899

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_004955429:13,582,676...13,615,801
Ensembl chrNW_004955429:13,578,494...13,616,463

G

copine 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:6,473,669...6,941,617
Ensembl chrNW_004955501:6,493,225...6,941,914

G

cystatin A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,617,099...21,630,712
Ensembl chrNW_004955427:21,617,054...21,630,773

G

DnaJ heat shock protein family (Hsp40) member B8

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

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

NCBI chrNW_004955429:15,349,346...15,350,343
Ensembl chrNW_004955429:15,349,564...15,350,268

G

DnaJ heat shock protein family (Hsp40) member C13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:5,980,407...6,111,424
Ensembl chrNW_004955501:5,976,182...6,093,384

G

deltex E3 ubiquitin ligase 3L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,806,170...21,812,701
Ensembl chrNW_004955427:21,806,192...21,815,031

G

ELL associated factor 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,171,900...21,204,138
Ensembl chrNW_004955427:21,172,009...21,204,051

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_004955429:15,381,257...15,598,355
Ensembl chrNW_004955429:15,380,601...15,585,866

G

EF-hand calcium binding domain 12

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004955429:17,870,292...17,877,846

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_004955450:10,494,407...10,523,125

G

EPH receptor B1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:3,424,112...3,821,727
Ensembl chrNW_004955501:3,423,977...3,821,890

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_004955427:21,668,180...21,695,004
Ensembl chrNW_004955427:21,667,922...21,694,844

G

F-box protein 40

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:20,979,180...20,996,654
Ensembl chrNW_004955427:20,979,180...20,998,977

G

follistatin like 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:19,952,823...20,003,832
Ensembl chrNW_004955427:19,952,853...20,004,241

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_004955429:15,326,551...15,334,774
Ensembl chrNW_004955429:15,327,113...15,336,460

G

golgin B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,022,369...21,108,448
Ensembl chrNW_004955427:21,021,894...21,105,049

G

glycoprotein IX platelet

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004955450:10,478,165...10,479,425
Ensembl chrNW_004955450:10,478,165...10,479,425

G

general transcription factor IIE subunit 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:20,242,326...20,273,314
Ensembl chrNW_004955427:20,241,774...20,273,551

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_004955427:22,642,509...22,733,170
Ensembl chrNW_004955427:22,642,478...22,734,271

G

hematopoietic cell-specific Lyn substrate 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:20,999,934...21,020,401
Ensembl chrNW_004955427:20,999,485...21,020,531

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_004955427:24,035,193...24,115,483

G

homogentisate 1,2-dioxygenase

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700

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_004955429:13,616,647...13,638,657
Ensembl chrNW_004955429:13,616,647...13,661,389

G

HSPB1 associated protein 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,931,101...22,004,811
Ensembl chrNW_004955427:21,931,502...22,004,807

G

intraflagellar transport 122

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004955429:17,795,757...17,858,609
Ensembl chrNW_004955429:17,794,879...17,858,609

G

interleukin 20 receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:1,826,687...1,863,261

G

immunoglobulin like domain containing receptor 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,304,460...21,333,170
Ensembl chrNW_004955427:21,304,890...21,322,261

G

IQ motif containing B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,120,012...21,171,838
Ensembl chrNW_004955427:21,118,703...21,171,683

G

ISY1 splicing factor homolog

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004955429:13,513,191...13,527,516
Ensembl chrNW_004955429:13,511,914...13,527,516

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_004955427:23,851,475...23,952,211
Ensembl chrNW_004955427:23,850,261...23,939,950

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_004955427:23,184,751...23,823,128
Ensembl chrNW_004955427:23,184,739...23,816,811

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_004955429:15,698,544...15,760,071
Ensembl chrNW_004955429:15,698,881...15,760,645

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_004955421:21,609,709...21,618,920
Ensembl chrNW_004955421:21,609,643...21,620,255

G

karyopherin subunit alpha 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,705,407...21,764,913
Ensembl chrNW_004955427:21,705,412...21,764,913

G

kyphoscoliosis peptidase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:3,961,603...4,005,095
Ensembl chrNW_004955501:3,961,198...4,005,191

G

histone H1x

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004955429:13,671,907...13,673,689
Ensembl chrNW_004955429:13,672,008...13,672,613

G

chromosome unknown open reading frame, human C3orf22

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_004955421:21,945,527...21,949,229

G

histone H1oo

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_004955429:17,778,193...17,783,307

G

serotransferrin

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:4,801,710...4,832,025
Ensembl chrNW_004955501:4,801,885...4,831,910

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_004955429:17,858,656...17,868,111
Ensembl chrNW_004955429:17,858,937...17,869,262

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_004955429:16,012,345...16,027,151
Ensembl chrNW_004955429:16,012,173...16,027,277

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_004955429:15,760,159...15,960,774
Ensembl chrNW_004955429:15,759,540...15,960,835

G

mitochondrial matrix import factor 23

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,639,392...21,667,642
Ensembl chrNW_004955427:21,639,392...21,667,696

G

mitochondrial ribosomal protein L3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:6,961,845...7,002,181
Ensembl chrNW_004955501:6,961,791...7,005,973

G

MSL complex subunit 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:2,601,424...2,645,341
Ensembl chrNW_004955501:2,601,424...2,645,341

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_004955427:23,979,080...24,001,627

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_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508

G

NCK adaptor protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:1,867,956...1,963,091

G

NADH:ubiquinone oxidoreductase subunit B4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:20,117,550...20,124,114
Ensembl chrNW_004955427:20,117,426...20,124,292

G

NIMA related kinase 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:7,107,858...7,375,079
Ensembl chrNW_004955501:7,108,526...7,374,984

G

nephrocystin 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:5,799,879...5,837,022
Ensembl chrNW_004955501:5,799,879...5,837,022

G

nudix hydrolase 16

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:7,083,068...7,085,505

G

oxysterol binding protein like 11

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

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

NCBI chrNW_004955420:24,215,433...24,279,033
Ensembl chrNW_004955420:24,215,737...24,279,033

G

poly(ADP-ribose) polymerase family member 14

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,878,980...21,929,097
Ensembl chrNW_004955427:21,879,740...21,927,883

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_004955427:21,770,158...21,806,091
Ensembl chrNW_004955427:21,770,577...21,804,717

G

propionyl-CoA carboxylase subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837

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_004955427:22,268,730...22,356,123
Ensembl chrNW_004955427:22,268,511...22,356,181

G

phosphoinositide-3-kinase regulatory subunit 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chrNW_004955501:7,604,934...7,681,947
Ensembl chrNW_004955501:7,604,501...7,681,947

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_004955429:16,482,821...16,522,978
Ensembl chrNW_004955429:16,482,725...16,522,973

G

plexin D1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004955429:17,746,814...17,775,072
Ensembl chrNW_004955429:17,746,814...17,776,246

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_004955429:15,968,877...15,995,617
Ensembl chrNW_004955429:15,968,877...15,995,617

G

DNA polymerase theta

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:20,779,332...20,895,094
Ensembl chrNW_004955427:20,778,952...20,894,989

G

protein phosphatase 2 regulatory subunit B''alpha

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:2,648,017...2,751,999
Ensembl chrNW_004955501:2,648,017...2,752,057

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_004955429:13,474,460...13,506,979
Ensembl chrNW_004955429:13,474,460...13,506,979

G

RAB6B, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:4,751,647...4,781,094
Ensembl chrNW_004955501:4,732,616...4,781,094

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_004955429:15,103,792...15,167,498

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_004955427:20,204,901...20,242,242
Ensembl chrNW_004955427:20,204,901...20,242,242

G

rhodopsin

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004955429:17,787,337...17,791,982
Ensembl chrNW_004955429:17,787,337...17,791,982

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_004955427:23,104,178...23,140,559

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_004955429:15,204,848...15,231,547
Ensembl chrNW_004955429:15,204,453...15,232,476

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_004955429:15,598,465...15,632,290
Ensembl chrNW_004955429:15,598,465...15,633,713

G

receptor like tyrosine kinase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:4,360,051...4,419,083
Ensembl chrNW_004955501:4,328,682...4,419,307

G

SEC22 homolog A, vesicle trafficking protein

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:22,389,552...22,456,149
Ensembl chrNW_004955427:22,388,827...22,456,149

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_004955429:15,637,461...15,652,556
Ensembl chrNW_004955429:15,637,325...15,652,556

G

semaphorin 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:22,109,946...22,219,497
Ensembl chrNW_004955427:22,109,607...22,180,602

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_004955427:24,137,420...24,284,485
Ensembl chrNW_004955427:24,137,228...24,284,070

G

solute carrier family 15 member 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,221,778...21,255,725
Ensembl chrNW_004955427:21,221,750...21,255,725

G

solute carrier family 35 member G2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:1,974,126...1,998,547
Ensembl chrNW_004955501:1,974,126...1,998,537

G

solute carrier family 41 member 3

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004955421:21,349,484...21,407,171
Ensembl chrNW_004955421:21,349,484...21,407,171

G

solute carrier family 49 member 4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:22,005,161...22,093,700
Ensembl chrNW_004955427:22,005,161...22,080,336

G

solute carrier organic anion transporter family member 2A1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:4,544,065...4,623,615
Ensembl chrNW_004955501:4,543,194...4,625,715

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_004955427:24,520,125...24,579,589
Ensembl chrNW_004955427:24,520,125...24,579,589

G

SRP receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:4,784,266...4,796,587
Ensembl chrNW_004955501:4,784,266...4,796,587

G

STAG1 cohesin complex component

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:2,070,614...2,465,339
Ensembl chrNW_004955501:2,173,695...2,465,331

G

syntaxin binding protein 5L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:20,390,060...20,760,043
Ensembl chrNW_004955427:20,390,060...20,760,043

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_004955429:17,589,221...17,726,639
Ensembl chrNW_004955429:17,545,534...17,726,977

G

transmembrane protein 108

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:5,148,821...5,475,073
Ensembl chrNW_004955501:5,147,375...5,468,417

G

DNA topoisomerase II binding protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:4,907,687...4,974,995
Ensembl chrNW_004955501:4,908,137...4,976,453

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_004955429:16,032,247...16,041,793
Ensembl chrNW_004955429:16,032,409...16,042,177

G

thyrotropin releasing hormone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chrNW_004955429:17,487,275...17,489,385

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_004955429:16,845,466...16,880,481
Ensembl chrNW_004955429:16,845,526...16,879,797

G

ubiquitin like modifier activating enzyme 5

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chrNW_004955501:5,841,516...5,864,304
Ensembl chrNW_004955501:5,841,606...5,870,953

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_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152

G

urocanate hydratase 1

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

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

NCBI chrNW_004955421:21,734,910...21,765,754
Ensembl chrNW_004955421:21,732,262...21,765,772

G

WD repeat domain 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chrNW_004955427:21,698,766...21,700,390
Ensembl chrNW_004955427:21,698,917...21,699,888

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_004955427:24,294,926...24,430,697
Ensembl chrNW_004955427:24,294,926...24,377,217

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_004955421:21,686,119...21,724,948
Ensembl chrNW_004955421:21,687,614...21,724,657

Refractory Anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fms related receptor tyrosine kinase 3 ligand

protein:increased expression:serum:

NCBI chrNW_004955559:1,364,056...1,371,245
Ensembl chrNW_004955559:1,365,938...1,370,002

G

homeostatic iron regulator

no_association

associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)
associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)

NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143

G

transcobalamin 2

protein:increased expression::

NCBI chrNW_004955455:4,827,030...4,849,810
Ensembl chrNW_004955455:4,826,694...4,849,613

G

telomerase reverse transcriptase

NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

G

Y-box binding protein 1

NCBI chrNW_004955537:2,234,052...2,254,528
Ensembl chrNW_004955537:2,234,054...2,251,708

Refractory Anemia with Excess of Blasts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

disease_progression

NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697

G

complement factor B

disease_progression

NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464

G

telomerase reverse transcriptase

NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589

G

tet methylcytosine dioxygenase 2

disease_progression

NCBI chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106

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_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061

G

aminolevulinate dehydratase

protein:decreased activity:kidney, liver, spleen

NCBI chrNW_004955419:14,093,010...14,104,376
Ensembl chrNW_004955419:14,093,010...14,104,545

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_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864

G

calreticulin

DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)

NCBI chrNW_004955415:31,985,147...31,989,372
Ensembl chrNW_004955415:31,985,147...31,989,372

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955524:3,123,513...3,125,642
Ensembl chrNW_004955524:3,123,760...3,125,621

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955438:17,067,017...17,076,162
Ensembl chrNW_004955438:17,066,955...17,075,789

G

heat shock protein family A (Hsp70) member 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955418:1,915,985...1,931,017
Ensembl chrNW_004955418:1,915,985...1,931,017

G

pseudouridine synthase 1

ClinVar Annotator: match by term: Sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chrNW_004955482:749,265...756,964
Ensembl chrNW_004955482:748,394...756,747

G

solute carrier family 25 member 38

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955420:29,988,147...29,996,485
Ensembl chrNW_004955420:29,988,147...29,996,486

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:16910769 PMID:21326867

NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163

G

transferrin receptor

mRNA,protein:increased expression:erythroblast:

NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691

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_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864

G

apurinic/apyrimidinic endodeoxyribonuclease 2

ClinVar Annotator: match by term: Anemia, sideroblastic, 1

NCBI chrNW_004955475:2,343,992...2,359,492
Ensembl chrNW_004955475:2,344,087...2,359,906

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_004955420:29,988,147...29,996,485
Ensembl chrNW_004955420:29,988,147...29,996,486

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_004955455:3,005,617...3,013,393

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_004955421:10,192,065...10,211,527
Ensembl chrNW_004955421:10,189,469...10,211,434

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_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166

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_004955537:2,922,156...2,937,223
Ensembl chrNW_004955537:2,922,156...2,937,223

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_004955434:9,349,033...9,355,817
Ensembl chrNW_004955434:9,349,142...9,355,739

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_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208

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_004955437:259,780...264,549
Ensembl chrNW_004955437:262,161...266,148

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_004955415:31,985,147...31,989,372
Ensembl chrNW_004955415:31,985,147...31,989,372

G

carboxypeptidase B2

NCBI chrNW_004955518:3,740,348...3,803,540
Ensembl chrNW_004955518:3,740,348...3,803,539

G

erythropoietin receptor

NCBI chrNW_004955495:2,293,587...2,299,302
Ensembl chrNW_004955495:2,293,540...2,298,715

G

interleukin 1 beta

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

G

Janus kinase 2

DNA:point mutations: :p.S755R, p.R938Q (human)
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

PMID:15781101 PMID:19287382 PMID:19287384 PMID:22467227 PMID:24398328

RGD:10449375 RGD:15039391 RGD:1627655

NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208

G

MPL proto-oncogene, thrombopoietin receptor

DNA:mutation:cds:c.317C > T,p.P106L(human)
CTD Direct Evidence: marker/mechanism

PMID:15813844 PMID:16484586 PMID:19036112

NCBI chrNW_004955537:2,922,156...2,937,223
Ensembl chrNW_004955537:2,922,156...2,937,223

G

protocadherin alpha 1

ClinVar Annotator: match by term: Thrombocytosis

NCBI chrNW_004955611:363,566...396,184

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Thrombocytosis

NCBI chrNW_004955482:8,079,905...8,100,791
Ensembl chrNW_004955482:8,096,160...8,097,765

G

thrombopoietin

susceptibility

DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism

PMID:9694695 PMID:15813844 PMID:33122006

NCBI chrNW_004955420:23,120,828...23,128,894
Ensembl chrNW_004955420:23,123,637...23,129,198

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_004955537:2,922,156...2,937,223
Ensembl chrNW_004955537:2,922,156...2,937,223

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_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061

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_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061

G

5'-aminolevulinate synthase 2

ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia

NCBI chrNW_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864

Term paths to the root

Path 1
Term	Annotations
disease	14337
disease of anatomical entity	14030
hematopoietic system disease	3385
bone marrow disease	749
Bone Marrow Neoplasms	440
bone marrow cancer +	440
Path 2
Term	Annotations
disease	14337
disease of anatomical entity	14030
Hemic and Lymphatic Diseases	3817
hematopoietic system disease	3385
Hematologic Neoplasms	968
Bone Marrow Neoplasms	440
bone marrow cancer +	440

paths to the root