bone marrow disease - Ontology Report - Rat Genome Database

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

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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

Term:	bone marrow disease	go back to main search page
Accession:	DOID:4961	browse the term
Definition:	A hematopoietic system disease that is located_in the bone marrow. (DO)
Synonyms:	exact_synonym:	bone marrow diseases; bone marrow disorder
	related_synonym:	bone marrow hypocellularity
	primary_id:	MESH:D001855
	xref:	NCI:C34433
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (786) Mouse (834) Human (35825) Chinchilla (686) Bonobo (740) Dog (736) Squirrel (685) Pig (718) Green Monkey (720) Naked Mole-rat (677) All
Genes (740)

bone marrow disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 12

CTD Direct Evidence: marker/mechanism

NCBI chr16:28,352,284...28,425,135
Ensembl chr16:47,244,280...47,306,984

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Bone marrow hypocellularity

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729

G

DCC netrin 1 receptor

ClinVar Annotator: match by term: Bone marrow hypocellularity

NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155

G

DEAD-box helicase 41

ClinVar Annotator: match by term: Bone marrow hypocellularity

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

NCBI chr 5:172,812,755...172,818,217
Ensembl chr 5:179,873,626...179,884,402

G

DNA methyltransferase 3 alpha

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

ERCC excision repair 6 like 2

ClinVar Annotator: match by term: Bone marrow hypocellularity

PMID:25741868 PMID:29987015

NCBI chr 9:66,967,399...67,153,934
Ensembl chr 9:95,092,512...95,183,122

G

forkhead box P3

ClinVar Annotator: match by term: Bone marrow hypocellularity

PMID:11137992 PMID:11295725 PMID:20650610 PMID:23534934 PMID:25546394 More...

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

glutathione S-transferase pi 1

susceptibility

associated with Lupus Erythematosus, Systemic;DNA:polymorphism:cds:p.I105V(human)

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:2,819,422...2,844,765
Ensembl chr 6:2,928,021...2,947,304

G

ribosomal protein S26

ClinVar Annotator: match by term: Bone marrow hypocellularity

NCBI chr12:32,869,092...32,871,399
Ensembl chr12:33,119,551...33,121,920

G

TERF1 interacting nuclear factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825

G

transthyretin

ClinVar Annotator: match by term: Bone marrow hypocellularity

PMID:1351039 PMID:1358785 PMID:1997217 PMID:2002274 PMID:2063870 More...

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

Acute Erythroleukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DEAD-box helicase 41

CTD Direct Evidence: marker/mechanism

NCBI chr 5:172,812,755...172,818,217
Ensembl chr 5:179,873,626...179,884,402

G

fms related receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:bone marrow cell:

NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326

G

homeobox B9

CTD Direct Evidence: marker/mechanism

NCBI chr17:8,910,421...8,916,128
Ensembl chr17:9,095,438...9,100,747

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100

G

nucleophosmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:166,735,904...166,756,321
Ensembl chr 5:173,490,197...173,510,656

G

nucleoporin 98 and 96 precursor

CTD Direct Evidence: marker/mechanism

NCBI chr11:3,553,379...3,669,367
Ensembl chr11:3,661,568...3,767,443

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

alpha-thalassemia myelodysplasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX chromatin remodeler

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

PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 More...

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

AMED syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alcohol dehydrogenase 5 (class III), chi polypeptide

ClinVar Annotator: match by term: AMED syndrome, digenic

PMID:25741868 PMID:33355142

NCBI chr 4:91,470,304...91,487,854
Ensembl chr 4:102,134,375...102,151,902

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 chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471

aplastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anaphase promoting complex subunit 2

protein:decreased expression:bone marrow (human)

NCBI chr 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652

G

CD40 ligand

protein:decreased expression:serum (human)

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

CD86 molecule

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

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:9885444 PMID:12221670

NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More...

NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

DEAD-box helicase 41

ClinVar Annotator: match by term: Aplastic anemia

NCBI chr 5:172,812,755...172,818,217
Ensembl chr 5:179,873,626...179,884,402

G

divergent protein kinase domain 1A

ClinVar Annotator: match by term: Aplastic anemia

NCBI chr 1:95,507,241...95,631,286
Ensembl chr 1:94,232,632...94,275,864

G

dyskerin pseudouridine synthase 1

DNA:missense mutations:exon:p.V105G, p.S121A (human)

NCBI chr X:144,243,493...144,257,419
Ensembl chr X:154,084,412...154,098,475

G

epoxide hydrolase 1

susceptibility
disease_progression

DNA:missense mutation:exon:p.H139R (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)

PMID:21228718 PMID:26999617

RGD:11252118 RGD:11252120

NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581

G

FA complementation group M

ClinVar Annotator: match by term: Aplastic anemia

PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29351780 More...

NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958

G

Fas cell surface death receptor

protein:increased expression:CD34+ bone marrow cell
protein:decreased expression:plasma:

PMID:7577642 PMID:11876982

RGD:11049159 RGD:11049449

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

fms related receptor tyrosine kinase 3 ligand

protein:increased expression:serum,plasma:

NCBI chr19:46,486,169...46,499,008

G

GATA binding protein 2

mRNA:decreased expression:CD34+ cell

NCBI chr 3:125,526,537...125,535,649
Ensembl chr 3:132,890,508...132,899,035

G

growth factor independent 1B transcriptional repressor

mRNA:decreased expression:bone marrow cell:

NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326

G

glutathione S-transferase mu 1

susceptibility

in male

Ensembl chr 1:127,979,238...128,010,411

G

interferon gamma

treatment
susceptibility

ClinVar Annotator: match by term: Aplastic anemia
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron:
DNA:polymorphism: : 874A>T(human)

OMIM
ClinVar
RGD

PMID:15327519 PMID:18426658 PMID:20953611

RGD:10755688 RGD:10755690 RGD:10755710

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

KIT proto-oncogene, receptor tyrosine kinase

severity

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

HLA class II histocompatibility antigen, DQ beta 1 chain

severity
treatment

DNA:polymorphism, haplotype

PMID:7994040 PMID:12070003 PMID:24979673

RGD:11041757 RGD:11041765 RGD:11041775

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

SBDS ribosome maturation factor

ClinVar Annotator: match by term: Aplastic anemia

PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More...

NCBI chr 7:59,090,343...59,098,332

G

nibrin

ClinVar Annotator: match by term: Aplastic anemia

PMID:2952226 PMID:9536098 PMID:9590180 PMID:9590181 PMID:9620777 More...

NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307

G

perforin 1

ClinVar Annotator: match by term: Aplastic anemia

PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More...

NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070

G

RAS p21 protein activator 3

OMIM:609135

NCBI chr13:95,036,382...95,195,480
Ensembl chr13:114,123,816...114,271,066

G

ribosomal protein L5

ClinVar Annotator: match by term: Aplastic anemia

NCBI chr 1:95,497,047...95,507,006
Ensembl chr 1:94,230,451...94,241,522

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Aplastic anemia

PMID:12167716 PMID:15814878 PMID:15885610 PMID:16332973 PMID:16627250 More...

Ensembl chr 5:1,300,960...1,338,872

G

transforming growth factor beta 1

susceptibility
severity

DNA:polymorphism: :509C>T(human)
protein:decreased expression: :

PMID:24028718 PMID:24362456

RGD:11073601 RGD:11073606

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

thrombopoietin

no_association

DNA:SNPs:exons:
DNA:mutation:cds:c.112C>T(human)

PMID:22686250 PMID:24085763

RGD:11073679 RGD:11073680

NCBI chr 3:181,409,038...181,416,986
Ensembl chr 3:189,891,025...189,897,429

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Aplastic anemia

NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825

G

tumor necrosis factor

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

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

atypical chronic myeloid leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

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

NCBI chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453

G

fibroblast growth factor receptor 1

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

major facilitator superfamily domain containing 11

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

NCBI chr17:70,813,323...70,856,121
Ensembl chr17:76,379,348...76,422,019

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453

G

serine and arginine rich splicing factor 2

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

NCBI chr17:70,809,931...70,813,191
Ensembl chr17:76,375,957...76,379,759

G

tet methylcytosine dioxygenase 2

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

PMID:22905207 PMID:28492532

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

autosomal dominant sideroblastic anemia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heat shock protein family A (Hsp70) member 9

ClinVar Annotator: match by term: Anemia, sideroblastic, 4

PMID:3653362 PMID:25741868 PMID:26491070 PMID:28492532

NCBI chr 5:133,934,859...133,955,048
Ensembl chr 5:140,064,207...140,084,551

autosomal recessive pyridoxine-refractory sideroblastic anemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr14:76,162,541...76,172,291

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 chr 3:39,287,934...39,301,810
Ensembl chr 3:39,567,737...39,581,957

autosomal recessive pyridoxine-refractory sideroblastic anemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin 5

ClinVar Annotator: match by term: Sideroblastic anemia 3

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

NCBI chr14:76,162,541...76,172,291

Autosomal Sideroblastic Anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arylsulfatase A

ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia

NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099

Blast Crisis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation induced cytidine deaminase

CTD Direct Evidence: marker/mechanism

NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

G

estrogen receptor 2

NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303

G

heme oxygenase 1

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

transcobalamin 2

protein:increased expression::

NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494

Bone Marrow Failure and Diabetes Mellitus Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

deoxyuridine triphosphatase

ClinVar Annotator: match by term: Bone marrow failure and diabetes mellitus syndrome

PMID:9548420 PMID:28073829 PMID:35611808 PMID:35931051

NCBI chr15:27,280,025...27,292,003
Ensembl chr15:45,603,807...45,616,022

Bone Marrow Failure Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal recognition particle 72

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

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

NCBI chr 4:67,420,551...67,456,065
Ensembl chr 4:73,989,304...74,025,906

Bone Marrow Failure Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 6 like 2

ClinVar Annotator: match by term: Bone marrow failure syndrome 2 | ClinVar Annotator: match by term: ERCC6L2-related condition

PMID:24507776 PMID:25741868 PMID:25741905 PMID:25741916 PMID:27185855 More...

NCBI chr 9:66,967,399...67,153,934
Ensembl chr 9:95,092,512...95,183,122

Bone Marrow Failure Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C21

ClinVar Annotator: match by term: Bone marrow failure syndrome 3 | ClinVar Annotator: match by term: DNAJC21-related condition

PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 More...

NCBI chr 5:75,411,784...75,440,485
Ensembl chr 5:80,695,390...80,719,741

Bone Marrow Failure Syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Myb like, SWIRM and MPN domains 1

ClinVar Annotator: match by term: Bone marrow failure syndrome 4 | ClinVar Annotator: match by term: MYSM1-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22184403 PMID:24288411 More...

NCBI chr 1:57,916,267...57,961,812
Ensembl chr 1:59,626,793...59,666,809

Bone Marrow Failure Syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

ClinVar Annotator: match by term: Bone marrow failure syndrome 5

PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1975675 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

Bone Marrow Failure Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MDM4 regulator of p53

ClinVar Annotator: match by term: Bone marrow failure syndrome 6

PMID:25741868 PMID:32300648

NCBI chr 1:180,117,364...180,151,144
Ensembl chr 1:184,406,124...184,439,344

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 chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

tumor protein p53

disease_progression

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

chronic myelogenous leukemia, BCR-ABL1 positive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

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

PMID:10988075 PMID:11423618 PMID:11567109 PMID:11569495 PMID:11853795 More...

NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941

G

BCR activator of RhoGEF and GTPase

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

PMID:25741868 PMID:28492532

G

B-Raf proto-oncogene, serine/threonine kinase

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

PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

colony stimulating factor 3 receptor

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

PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 More...

NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612

G

IKAROS family zinc finger 1

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

NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245

G

insulin like 6

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

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

NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827

G

Janus kinase 2

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

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

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

KIT proto-oncogene, receptor tyrosine kinase

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

PMID:16307017 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 More...

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

KRAS proto-oncogene, GTPase

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

PMID:2278970 PMID:3122217 PMID:8439212 PMID:15696205 PMID:16361624 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

NRAS proto-oncogene, GTPase

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

PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:12460918 More...

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

SET binding protein 1

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

PMID:18398855 PMID:18414213 PMID:20436468 PMID:21371013 PMID:23222956 More...

NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453

G

splicing factor 3b subunit 1

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

PMID:23395771 PMID:25741868

NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346

chronic myeloid leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

treatment
susceptibility

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

PMID:24581936 PMID:26250462

RGD:11081178 RGD:11081180

NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

G

ATP binding cassette subfamily C member 2

treatment

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

NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270

G

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

treatment
susceptibility

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

PMID:24123600 PMID:24581936 PMID:26250462

RGD:11081178 RGD:11081180 RGD:11081181

NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157

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 chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941

G

angiotensin I converting enzyme

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

angiotensinogen

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

AKT serine/threonine kinase 1

protein:increased phosphorylation:blood

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: therapeutic

PMID:19503090 PMID:19823023

NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016

G

BCL2 like 1

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

G

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

G

baculoviral IAP repeat containing 5

CTD Direct Evidence: therapeutic

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

basic helix-loop-helix ARNT like 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:13,436,580...13,547,135
Ensembl chr11:13,163,028...13,240,376

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Chronic myelogenous leukemia

PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340

G

caspase 6

treatment

human cells in mouse model

NCBI chr 4:102,186,215...102,201,992
Ensembl chr 4:112,753,988...112,768,836

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD40 molecule

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

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

cyclin dependent kinase inhibitor 1B

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

NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

G

cyclin dependent kinase inhibitor 2A

treatment

NCBI chr 9:21,803,862...21,831,322

G

cysteine and histidine rich domain containing 1

OMIM:608232

NCBI chr11:85,170,779...85,193,659
Ensembl chr11:88,668,179...88,689,378

G

CRK like proto-oncogene, adaptor protein

protein:increased phosphorylation:blood

NCBI chr22:3,141,147...3,177,448
Ensembl chr22:19,632,359...19,668,858

G

cryptochrome circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:104,558,874...104,658,833
Ensembl chr12:107,954,262...108,052,484

G

cryptochrome circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:45,801,504...45,837,357
Ensembl chr11:46,293,717...46,329,759

G

cytochrome P450 family 1 subfamily A member 1

treatment

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

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

G

cytochrome P450 family 3 subfamily A member 5

susceptibility
treatment

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

PMID:19584153 PMID:21039054

RGD:11353798 RGD:11353810

NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322

G

DNA methyltransferase 1

disease_progression

NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972

G

DNA methyltransferase 3 alpha

disease_progression

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

DNA methyltransferase 3 beta

disease_progression

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

G

E2F transcription factor 1

mRNA:increased expression:blood

NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604

G

ERCC excision repair 2, TFIIH core complex helicase subunit

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

PMID:24955348 PMID:25311495

RGD:11060463 RGD:11252188

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

Fas cell surface death receptor

susceptibility

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

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fas ligand

susceptibility

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

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

fibroblast growth factor receptor 3

mRNA:increased expression:peripheral blood (human)

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

GRB2 associated binding protein 2

disease_progression

protein:increased expression:bone marrow

NCBI chr11:73,275,360...73,478,272
Ensembl chr11:76,896,691...76,967,007

G

glutathione peroxidase 1

no_association

DNA:polymorphism: :p.P198L (human)

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

hes family bHLH transcription factor 1

rat gene in a mouse model

NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257

G

hyaluronan mediated motility receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,837,511...158,868,800
Ensembl chr 5:165,614,127...165,645,478

G

heme oxygenase 1

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458

G

interleukin 10

treatment

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 1 beta

severity

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

severity

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

insulin like 6

ClinVar Annotator: match by term: Chronic myelogenous leukemia

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

NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827

G

Janus kinase 2

ClinVar Annotator: match by term: Chronic myelogenous leukemia

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

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Chronic myelogenous leukemia

PMID:2278970 PMID:3122217 PMID:8439212 PMID:15696205 PMID:16361624 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

interferon alpha-2

CTD Direct Evidence: therapeutic

PMID:10520005 PMID:10715301 PMID:12620292

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

G

HLA class II histocompatibility antigen, DQ beta 1 chain

DNA:polymorphism, haplotype

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

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 chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783

G

low affinity immunoglobulin gamma Fc region receptor II-a

NCBI chr 1:136,892,311...136,906,450

G

mitogen-activated protein kinase 14

CTD Direct Evidence: therapeutic

NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114

G

MDM2 proto-oncogene

onset

DNA:SNP:promoter:rs2279744(human)

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

G

methylenetetrahydrofolate reductase

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

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

nicastrin

OMIM:608232

NCBI chr 1:135,697,592...135,713,293
Ensembl chr 1:139,618,229...139,633,911

G

NAD(P)H quinone dehydrogenase 1

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

NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Chronic myelogenous leukemia

PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:12460918 More...

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:serum (human)

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

period circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:43,502,080...43,518,098
Ensembl chr17:48,234,360...48,250,391

G

period circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr2B:125,477,021...125,521,577
Ensembl chr2B:244,328,122...244,371,040

G

period circadian regulator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:6,547,667...6,607,905
Ensembl chr 1:7,795,552...7,855,922

G

proteinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:283,314...291,504

G

SET binding protein 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

PMID:18398855 PMID:18414213 PMID:20436468 PMID:21371013 PMID:23222956 More...

NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

PMID:23395771 PMID:25741868

NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346

G

SH2B adaptor protein 3

OMIM:608232

NCBI chr12:108,977,344...109,024,029

G

signal-induced proliferation-associated 1

OMIM:608232

NCBI chr11:60,997,292...61,010,155
Ensembl chr11:64,335,136...64,344,955

G

SMAD family member 4

mRNA:decreased expression:blood

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

serine and arginine rich splicing factor 1

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

NCBI chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:15068898 PMID:17157168

Ensembl chr 5:1,300,960...1,338,872

G

transforming growth factor beta 1

protein:increased expression:serum

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

ubiquitin specific peptidase 15

mRNA, protein:decreased expression:PBMC (human)

NCBI chr12:26,533,441...26,682,964
Ensembl chr12:26,808,337...26,954,099

G

vascular endothelial growth factor A

susceptibility

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

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

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 chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453

G

cyclin dependent kinase inhibitor 2B

DNA:altered methylation:5'UTR:

NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156

G

colony stimulating factor 3 receptor

disease_progression

DNA:mutations:multiples:

NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

DNA:mutations:multiple (human)

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

lysine demethylase 6A

NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029

G

NRAS proto-oncogene, GTPase

onset

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

tet methylcytosine dioxygenase 2

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

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

chronic neutrophilic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

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

PMID:23604229 PMID:24081659

RGD:10450482 RGD:10450483

NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612

Congenital Bone Marrow Failure Syndromes

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C21

ClinVar Annotator: match by term: Inherited bone marrow failure syndrome

PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 More...

NCBI chr 5:75,411,784...75,440,485
Ensembl chr 5:80,695,390...80,719,741

G

ERCC excision repair 6 like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:66,967,399...67,153,934
Ensembl chr 9:95,092,512...95,183,122

G

signal recognition particle 72

CTD Direct Evidence: marker/mechanism

NCBI chr 4:67,420,551...67,456,065
Ensembl chr 4:73,989,304...74,025,906

congenital hypoplastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin maturation protease

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,785,116...37,794,864
Ensembl chr19:46,292,232...46,302,127

G

AKT serine/threonine kinase 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271

G

Rho guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,771,343...38,796,174
Ensembl chr19:47,277,420...47,299,663

G

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716

G

AXL receptor tyrosine kinase

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,211,555...38,254,464
Ensembl chr19:46,719,615...46,761,747

G

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,419,180...38,422,360
Ensembl chr19:46,925,762...46,926,955

G

B9 domain containing 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,347,505...38,357,319
Ensembl chr19:46,853,954...46,864,014

G

branched chain keto acid dehydrogenase E1 subunit alpha

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,391,618...38,418,826
Ensembl chr19:46,898,024...46,925,171

G

biliverdin reductase B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,496,344...37,516,127
Ensembl chr19:46,007,321...46,025,120

G

chromosome 20 C19orf47 homolog

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,369,187...37,396,608
Ensembl chr19:45,883,009...45,910,012

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804

G

coiled-coil domain containing 97

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,303,248...38,318,114
Ensembl chr19:46,810,871...46,825,156

G

cyclin P

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,266,426...37,271,829
Ensembl chr19:45,782,042...45,786,916

G

CD79a molecule

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711

G

CEA cell adhesion molecule 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,683,496...38,698,429
Ensembl chr19:47,189,215...47,204,136

G

CEA cell adhesion molecule 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,512,661...38,520,693
Ensembl chr19:47,018,593...47,026,596

G

CEA cell adhesion molecule 5

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,599,814...38,620,954
Ensembl chr19:47,105,539...47,124,284

G

CEA cell adhesion molecule 7

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,564,526...38,579,621

G

capicua transcriptional repressor

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:39,156,204...39,183,498
Ensembl chr19:47,751,520...47,774,699

G

Charcot-Leyden crystal galectin

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr13:95,374,662...95,375,973

G

cornifelin

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:39,274,761...39,278,019
Ensembl chr19:47,865,155...47,870,162

G

coenzyme Q8B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,735,725...37,761,160
Ensembl chr19:46,242,576...46,267,503

G

cytochrome P450 family 2 subfamily B member 6

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672

G

cytochrome P450 family 2 subfamily F member 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,124,921...38,137,574
Ensembl chr19:46,632,134...46,643,748

G

cytochrome P450 family 2 subfamily S member 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,185,893...38,200,064
Ensembl chr19:46,693,025...46,705,950

G

death effector domain containing 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:39,086,735...39,108,312
Ensembl chr19:47,678,915...47,700,431

G

divergent protein kinase domain 1A

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:20054847 PMID:25741868 PMID:28492532

NCBI chr 1:95,507,241...95,631,286
Ensembl chr 1:94,232,632...94,275,864

G

delta like canonical Notch ligand 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:36,597,420...36,607,021

G

distal membrane arm assembly component 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,425,167...38,434,643
Ensembl chr19:46,931,519...46,940,861

G

DMRT like family C2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,735,791...38,741,017

G

dual specificity tyrosine phosphorylation regulated kinase 1B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:36,857,223...36,866,099
Ensembl chr19:45,405,431...45,411,387

G

egl-9 family hypoxia inducible factor 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,842,460...37,851,465
Ensembl chr19:46,349,131...46,357,875

G

EP300 interacting inhibitor of differentiation 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:36,636,855...36,638,308

G

EP300 interacting inhibitor of differentiation 2B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:36,629,480...36,631,665
Ensembl chr19:45,178,537...45,179,022

G

ETS2 repressor factor

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808

G

glutamate rich 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,436,330...38,438,705
Ensembl chr19:46,942,980...46,944,883

G

exosome component 5

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,379,884...38,391,309
Ensembl chr19:46,886,326...46,897,703

G

fibrillarin

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:36,866,329...36,878,293
Ensembl chr19:45,413,978...45,425,930

G

Fc gamma binding protein

ClinVar Annotator: match by term: Congenital hypoplastic anemia

G

GATA binding protein 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:871527 PMID:3164080 PMID:12200364 PMID:14691578 PMID:15895080 More...

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

G

glutamate ionotropic receptor kainate type subunit 5

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,886,108...38,956,938
Ensembl chr19:47,389,804...47,544,604

G

glycogen synthase kinase 3 alpha

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:39,118,330...39,130,768
Ensembl chr19:47,710,197...47,726,948

G

homeodomain interacting protein kinase 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,427,496...37,439,259

G

heterogeneous nuclear ribonucleoprotein U like 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,255,183...38,300,877
Ensembl chr19:46,762,459...46,808,374

G

inositol-trisphosphate 3-kinase C

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,761,221...37,785,118
Ensembl chr19:46,267,754...46,290,935

G

leucine twenty homeobox

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:36,814,652...36,816,787
Ensembl chr19:45,357,390...45,364,229

G

lipase E, hormone sensitive type

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:39,289,162...39,315,067
Ensembl chr19:47,881,292...47,907,066

G

small ribosomal subunit protein eS10

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

NCBI chr 6:33,982,735...33,991,470

G

CEA cell adhesion molecule 6

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,648,451...39,559,050
Ensembl chr19:47,154,101...47,169,691

G

zinc finger protein 780B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,079,851...37,138,995
Ensembl chr19:45,635,424...45,653,314

G

latent transforming growth factor beta binding protein 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,637,509...37,674,791
Ensembl chr19:46,144,485...46,181,636

G

LY6/PLAUR domain containing 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,725,837...38,733,460
Ensembl chr19:47,231,778...47,239,581

G

mitogen-activated protein kinase kinase kinase 10

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,236,438...37,260,314
Ensembl chr19:45,753,354...45,775,137

G

multiple EGF like domains 8

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:39,213,339...39,265,391
Ensembl chr19:47,805,307...47,858,636

G

MIA SH3 domain containing

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,818,126...37,820,832
Ensembl chr19:46,325,755...46,328,065

G

NUMB like endocytic adaptor protein

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,710,882...37,734,873
Ensembl chr19:46,217,935...46,238,103

G

platelet activating factor acetylhydrolase 1b catalytic subunit 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:39,184,734...39,190,522

G

phospholipase D family member 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,396,475...37,426,425
Ensembl chr19:45,910,035...45,939,343

G

pleckstrin homology and RhoGEF domain containing G2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940

G

POU class 2 homeobox 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,974,635...39,065,103
Ensembl chr19:47,570,891...47,611,589

G

proline rich 19

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:39,189,839...39,198,524
Ensembl chr19:47,780,843...47,789,689

G

periaxin

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,442,299...37,461,844
Ensembl chr19:45,952,420...45,971,987

G

proteasome 26S subunit, ATPase 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,018,112...37,028,490
Ensembl chr19:45,533,141...45,543,245

G

RAB4B, member RAS oncogene family

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,821,564...37,840,257
Ensembl chr19:46,328,788...46,346,492

G

Rab acceptor 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,844,358...38,847,068
Ensembl chr19:47,348,367...47,351,058

G

ribosomal protein L19

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

NCBI chr17:18,066,656...18,071,158
Ensembl chr17:18,342,003...18,346,399

G

ribosomal protein L26

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

NCBI chr17:43,274,839...43,282,606
Ensembl chr17:48,009,198...48,015,977

G

ribosomal protein L5

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:20054847 PMID:25741868 PMID:28492532

NCBI chr 1:95,497,047...95,507,006
Ensembl chr 1:94,230,451...94,241,522

G

ribosomal protein S16

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:36,531,284...36,534,156
Ensembl chr19:45,079,106...45,085,351

G

ribosomal protein S19

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:9988267 PMID:10753603 PMID:12586610 PMID:12750732 PMID:15384984 More...

NCBI chr19:38,748,604...38,760,055
Ensembl chr19:47,254,157...47,264,953

G

ribosomal protein S24

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

NCBI chr10:74,554,301...74,561,240
Ensembl chr10:77,217,228...77,238,519

G

selenoprotein V

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:36,613,072...36,619,852
Ensembl chr19:45,161,229...45,165,738

G

SERTA domain containing 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,471,006...37,474,528

G

SERTA domain containing 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,489,388...37,493,147
Ensembl chr19:46,001,062...46,001,652

G

SH3KBP1 binding protein 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,621,867...37,636,431
Ensembl chr19:46,128,717...46,143,423

G

small nuclear ribonucleoprotein polypeptide A

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,795,139...37,809,265
Ensembl chr19:46,302,198...46,316,593

G

spectrin beta, non-erythrocytic 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,515,420...37,621,473
Ensembl chr19:46,042,387...46,127,429

G

SPT5 homolog, DSIF elongation factor subunit

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:36,543,998...36,575,161
Ensembl chr19:45,092,075...45,122,335

G

transforming growth factor beta 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

translocase of inner mitochondrial membrane 50

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:36,578,969...36,589,598
Ensembl chr19:45,126,266...45,135,984

G

transmembrane protein 145

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:39,201,037...39,212,761
Ensembl chr19:47,793,267...47,804,526

G

transmembrane protein 91

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,356,797...38,377,601
Ensembl chr19:46,853,711...46,884,051

G

tetratricopeptide repeat domain 9B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,260,791...37,263,267

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029

G

zinc finger protein 526

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:39,108,454...39,115,200

G

zinc finger protein 546

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:37,043,584...37,063,413
Ensembl chr19:45,568,547...45,578,318

G

zinc finger protein 574

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr19:38,962,843...38,968,286
Ensembl chr19:47,547,382...47,560,710

Diamond-Blackfan anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin maturation protease

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,785,116...37,794,864
Ensembl chr19:46,292,232...46,302,127

G

AKT serine/threonine kinase 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271

G

arachidonate 12-lipoxygenase, 12R type

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029

G

arachidonate lipoxygenase 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941

G

Rho guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,771,343...38,796,174
Ensembl chr19:47,277,420...47,299,663

G

Rho guanine nucleotide exchange factor 15

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More...

NCBI chr17:43,336,764...43,349,787
Ensembl chr17:48,070,223...48,082,499

G

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716

G

aurora kinase B

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129

G

AXL receptor tyrosine kinase

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,211,555...38,254,464
Ensembl chr19:46,719,615...46,761,747

G

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,419,180...38,422,360
Ensembl chr19:46,925,762...46,926,955

G

B9 domain containing 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,347,505...38,357,319
Ensembl chr19:46,853,954...46,864,014

G

branched chain keto acid dehydrogenase E1 subunit alpha

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,391,618...38,418,826
Ensembl chr19:46,898,024...46,925,171

G

biliverdin reductase B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,496,344...37,516,127
Ensembl chr19:46,007,321...46,025,120

G

BLOC-1 related complex subunit 6

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:43,467,811...43,470,061
Ensembl chr17:48,200,155...48,201,228

G

chromosome 20 C19orf47 homolog

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,369,187...37,396,608
Ensembl chr19:45,883,009...45,910,012

G

coiled-coil domain containing 97

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,303,248...38,318,114
Ensembl chr19:46,810,871...46,825,156

G

cyclin P

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,266,426...37,271,829
Ensembl chr19:45,782,042...45,786,916

G

CD79a molecule

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711

G

CEA cell adhesion molecule 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,683,496...38,698,429
Ensembl chr19:47,189,215...47,204,136

G

CEA cell adhesion molecule 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,512,661...38,520,693
Ensembl chr19:47,018,593...47,026,596

G

CEA cell adhesion molecule 5

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,599,814...38,620,954
Ensembl chr19:47,105,539...47,124,284

G

CEA cell adhesion molecule 7

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,564,526...38,579,621

G

chromodomain helicase DNA binding protein 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115

G

capicua transcriptional repressor

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:39,156,204...39,183,498
Ensembl chr19:47,751,520...47,774,699

G

Charcot-Leyden crystal galectin

ClinVar Annotator: match by term: Aase syndrome

NCBI chr13:95,374,662...95,375,973

G

cornifelin

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:39,274,761...39,278,019
Ensembl chr19:47,865,155...47,870,162

G

centrobin, centriole duplication and spindle assembly protein

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,967,297...7,983,743
Ensembl chr17:7,953,660...7,970,148

G

coenzyme Q8B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,735,725...37,761,160
Ensembl chr19:46,242,576...46,267,503

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More...

NCBI chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537

G

cytochrome P450 family 2 subfamily B member 6

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672

G

cytochrome P450 family 2 subfamily F member 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,124,921...38,137,574
Ensembl chr19:46,632,134...46,643,748

G

cytochrome P450 family 2 subfamily S member 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,185,893...38,200,064
Ensembl chr19:46,693,025...46,705,950

G

death effector domain containing 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:39,086,735...39,108,312
Ensembl chr19:47,678,915...47,700,431

G

divergent protein kinase domain 1A

ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More...

NCBI chr 1:95,507,241...95,631,286
Ensembl chr 1:94,232,632...94,275,864

G

delta like canonical Notch ligand 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:36,597,420...36,607,021

G

distal membrane arm assembly component 2

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr19:38,425,167...38,434,643
Ensembl chr19:46,931,519...46,940,861

G

DMRT like family C2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,735,791...38,741,017

G

dynein axonemal heavy chain 2

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,746,731...7,867,426
Ensembl chr17:7,739,573...7,853,752

G

dual specificity tyrosine phosphorylation regulated kinase 1B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:36,857,223...36,866,099
Ensembl chr19:45,405,431...45,411,387

G

ephrin B3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,737,297...7,743,732
Ensembl chr17:7,724,983...7,731,270

G

egl-9 family hypoxia inducible factor 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,842,460...37,851,465
Ensembl chr19:46,349,131...46,357,875

G

EP300 interacting inhibitor of differentiation 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:36,636,855...36,638,308

G

EP300 interacting inhibitor of differentiation 2B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:36,629,480...36,631,665
Ensembl chr19:45,178,537...45,179,022

G

ETS2 repressor factor

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808

G

glutamate rich 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,436,330...38,438,705
Ensembl chr19:46,942,980...46,944,883

G

exosome component 5

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,379,884...38,391,309
Ensembl chr19:46,886,326...46,897,703

G

fibrillarin

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:36,866,329...36,878,293
Ensembl chr19:45,413,978...45,425,930

G

Fc gamma binding protein

ClinVar Annotator: match by term: Aase syndrome

G

FLVCR choline and heme transporter 1

OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909

NCBI chr 1:188,425,697...188,466,721
Ensembl chr 1:193,284,158...193,320,554

G

GATA binding protein 1

ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:871527 PMID:3164080 PMID:8628290 PMID:9536098 PMID:11566888 More...

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

G

glyoxalase domain containing 5

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532

NCBI chr X:41,060,152...41,071,654
Ensembl chr X:48,920,747...48,932,442

G

glutamate ionotropic receptor kainate type subunit 5

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,886,108...38,956,938
Ensembl chr19:47,389,804...47,544,604

G

glycogen synthase kinase 3 alpha

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:39,118,330...39,130,768
Ensembl chr19:47,710,197...47,726,948

G

guanylate cyclase 2D, retinal

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065

G

HEAT repeat containing 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr16:30,329,163...30,369,658
Ensembl chr16:49,212,645...49,251,043

G

hes family bHLH transcription factor 7

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:43,530,919...43,537,999

G

homeodomain interacting protein kinase 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,427,496...37,439,259

G

heterogeneous nuclear ribonucleoprotein U like 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,255,183...38,300,877
Ensembl chr19:46,762,459...46,808,374

G

IQ motif containing G

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More...

NCBI chr 3:195,316,220...195,396,328
Ensembl chr 3:205,185,927...205,268,692

G

inositol-trisphosphate 3-kinase C

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,761,221...37,785,118
Ensembl chr19:46,267,754...46,290,935

G

potassium voltage-gated channel subfamily A regulatory beta subunit 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,956,961...7,965,450
Ensembl chr17:7,943,403...7,951,477

G

lysine demethylase 6B

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,878,783...7,889,372
Ensembl chr17:7,866,973...7,874,937

G

KLF transcription factor 1

mRNA:decreased expression:bone marrow, blood

NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425

G

KRAB-A domain containing 2

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More...

NCBI chr17:43,282,744...43,291,426
Ensembl chr17:48,021,804...48,024,433

G

leucine twenty homeobox

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:36,814,652...36,816,787
Ensembl chr19:45,357,390...45,364,229

G

lipase E, hormone sensitive type

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:39,289,162...39,315,067
Ensembl chr19:47,881,292...47,907,066

G

cytochrome b5 domain-containing protein 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,892,814...7,897,251
Ensembl chr17:7,879,163...7,883,719

G

arachidonate 15-lipoxygenase type B

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:43,609,146...43,619,713
Ensembl chr17:48,340,777...48,350,808

G

somatotropin

treatment

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

small ribosomal subunit protein eS10

ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 More...

NCBI chr 6:33,982,735...33,991,470

G

CEA cell adhesion molecule 6

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,648,451...39,559,050
Ensembl chr19:47,154,101...47,169,691

G

zinc finger protein 780B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,079,851...37,138,995
Ensembl chr19:45,635,424...45,653,314

G

latent transforming growth factor beta binding protein 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,637,509...37,674,791
Ensembl chr19:46,144,485...46,181,636

G

LY6/PLAUR domain containing 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,725,837...38,733,460
Ensembl chr19:47,231,778...47,239,581

G

mitogen-activated protein kinase kinase kinase 10

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,236,438...37,260,314
Ensembl chr19:45,753,354...45,775,137

G

multiple EGF like domains 8

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:39,213,339...39,265,391
Ensembl chr19:47,805,307...47,858,636

G

MIA SH3 domain containing

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,818,126...37,820,832
Ensembl chr19:46,325,755...46,328,065

G

N-alpha-acetyltransferase 38, NatC auxiliary subunit

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,891,617...7,921,183
Ensembl chr17:7,878,102...7,887,932

G

NUMB like endocytic adaptor protein

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,710,882...37,734,873
Ensembl chr19:46,217,935...46,238,103

G

outer dense fiber of sperm tails 4

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More...

NCBI chr17:43,313,586...43,320,058
Ensembl chr17:48,046,835...48,053,135

G

platelet activating factor acetylhydrolase 1b catalytic subunit 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:39,184,734...39,190,522

G

period circadian regulator 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:43,502,080...43,518,098
Ensembl chr17:48,234,360...48,250,391

G

phosphoribosylformylglycinamidine synthase

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More...

NCBI chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720

G

phospholipase D family member 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,396,475...37,426,425
Ensembl chr19:45,910,035...45,939,343

G

pleckstrin homology and RhoGEF domain containing G2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940

G

RNA polymerase III subunit A

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:22855961 PMID:25741868 PMID:27029625

NCBI chr10:74,496,121...74,550,054

G

POU class 2 homeobox 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,974,635...39,065,103
Ensembl chr19:47,570,891...47,611,589

G

proline rich 19

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:39,189,839...39,198,524
Ensembl chr19:47,780,843...47,789,689

G

periaxin

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,442,299...37,461,844
Ensembl chr19:45,952,420...45,971,987

G

proteasome 26S subunit, ATPase 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,018,112...37,028,490
Ensembl chr19:45,533,141...45,543,245

G

RAB4B, member RAS oncogene family

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,821,564...37,840,257
Ensembl chr19:46,328,788...46,346,492

G

Rab acceptor 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,844,358...38,847,068
Ensembl chr19:47,348,367...47,351,058

G

RAN guanine nucleotide release factor

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More...

NCBI chr17:43,369,556...43,371,025
Ensembl chr17:48,101,744...48,103,394

G

ring finger protein 227

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,948,370...7,951,882
Ensembl chr17:7,936,179...7,937,723

G

ribosomal protein L11

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More...

NCBI chr 1:22,883,157...22,887,806
Ensembl chr 1:23,868,688...23,873,313

G

ribosomal protein L19

ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:25741868 PMID:28492532

NCBI chr17:18,066,656...18,071,158
Ensembl chr17:18,342,003...18,346,399

G

ribosomal protein L26

ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:9536098 PMID:17576681 PMID:20522432 PMID:21056402 PMID:22267198 More...

NCBI chr17:43,274,839...43,282,606
Ensembl chr17:48,009,198...48,015,977

G

ribosomal protein L35a

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More...

NCBI chr 3:195,386,399...195,392,113
Ensembl chr 3:205,258,700...205,264,485

G

ribosomal protein L5

ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More...

NCBI chr 1:95,497,047...95,507,006
Ensembl chr 1:94,230,451...94,241,522

G

ribosomal protein S16

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:36,531,284...36,534,156
Ensembl chr19:45,079,106...45,085,351

G

ribosomal protein S17

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:17647292 PMID:19953637 PMID:25741868

NCBI chr15:63,056,604...63,060,436

G

ribosomal protein S19

ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary

PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 More...

NCBI chr19:38,748,604...38,760,055
Ensembl chr19:47,254,157...47,264,953

G

ribosomal protein S20

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:25741868 PMID:32790018

NCBI chr 8:52,519,658...52,521,152
Ensembl chr 8:49,886,952...49,891,806

G

ribosomal protein S24

ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary

PMID:9536098 PMID:17186470 PMID:17576681 PMID:19689926 PMID:20960466 More...

NCBI chr10:74,554,301...74,561,240
Ensembl chr10:77,217,228...77,238,519

G

ribosomal protein S26

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:19816270 PMID:20116044 PMID:22381658 PMID:23718193 PMID:24675553 More...

NCBI chr12:32,869,092...32,871,399
Ensembl chr12:33,119,551...33,121,920

G

ribosomal protein S7

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:25741868 PMID:26136524 PMID:28492532

NCBI chr2A:3,593,350...3,599,106
Ensembl chr2A:3,512,079...3,517,785

G

ribosomal protein SA

OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909

NCBI chr 3:39,311,321...39,317,083
Ensembl chr 3:39,591,012...39,596,748

G

selenoprotein V

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:36,613,072...36,619,852
Ensembl chr19:45,161,229...45,165,738

G

SERTA domain containing 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,471,006...37,474,528

G

SERTA domain containing 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,489,388...37,493,147
Ensembl chr19:46,001,062...46,001,652

G

SH3KBP1 binding protein 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,621,867...37,636,431
Ensembl chr19:46,128,717...46,143,423

G

solute carrier family 25 member 35

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More...

NCBI chr17:43,364,198...43,369,582
Ensembl chr17:48,096,764...48,102,215

G

small nuclear ribonucleoprotein polypeptide A

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,795,139...37,809,265
Ensembl chr19:46,302,198...46,316,593

G

spectrin beta, non-erythrocytic 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,515,420...37,621,473
Ensembl chr19:46,042,387...46,127,429

G

SPT5 homolog, DSIF elongation factor subunit

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:36,543,998...36,575,161
Ensembl chr19:45,092,075...45,122,335

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532

NCBI chr X:40,993,911...41,007,362
Ensembl chr X:48,855,494...48,868,131

G

transforming growth factor beta 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

translocase of inner mitochondrial membrane 50

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:36,578,969...36,589,598
Ensembl chr19:45,126,266...45,135,984

G

transmembrane protein 107

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:43,481,043...43,485,189
Ensembl chr17:48,214,392...48,217,773

G

transmembrane protein 145

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:39,201,037...39,212,761
Ensembl chr19:47,793,267...47,804,526

G

transmembrane protein 88

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,889,870...7,891,032
Ensembl chr17:7,876,294...7,877,517

G

transmembrane protein 91

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,356,797...38,377,601
Ensembl chr19:46,853,711...46,884,051

G

tumor protein p53

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

trafficking protein particle complex subunit 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,965,454...7,967,172
Ensembl chr17:7,951,885...7,953,365

G

tetratricopeptide repeat domain 9B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,260,791...37,263,267

G

vesicle associated membrane protein 2

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:43,495,464...43,499,348
Ensembl chr17:48,228,253...48,231,948

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532

NCBI chr X:40,982,132...40,989,767
Ensembl chr X:48,842,765...48,850,380

G

WD repeat containing antisense to TP53

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394

G

zinc finger protein 526

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:39,108,454...39,115,200

G

zinc finger protein 546

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:37,043,584...37,063,413
Ensembl chr19:45,568,547...45,578,318

G

zinc finger protein 574

ClinVar Annotator: match by term: Aase syndrome

NCBI chr19:38,962,843...38,968,286
Ensembl chr19:47,547,382...47,560,710

G

zinc finger protein 699

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr19:8,825,009...8,843,137
Ensembl chr19:9,513,363...9,529,885

Diamond-Blackfan anemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

divergent protein kinase domain 1A

ClinVar Annotator: match by term: Diamond-Blackfan anemia 1

PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More...

NCBI chr 1:95,507,241...95,631,286
Ensembl chr 1:94,232,632...94,275,864

G

HEAT repeat containing 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia 1

PMID:25741868 PMID:35213692

NCBI chr16:30,329,163...30,369,658
Ensembl chr16:49,212,645...49,251,043

G

ribosomal protein L5

ClinVar Annotator: match by term: Diamond-Blackfan anemia 1

PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More...

NCBI chr 1:95,497,047...95,507,006
Ensembl chr 1:94,230,451...94,241,522

G

ribosomal protein S19

ClinVar Annotator: match by term: Diamond-Blackfan anemia 1

PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 More...

NCBI chr19:38,748,604...38,760,055
Ensembl chr19:47,254,157...47,264,953

Diamond-Blackfan anemia 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

IKAROS family zinc finger 4

ClinVar Annotator: match by term: Diamond-Blackfan anemia 10

PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:23812780 More...

NCBI chr12:32,874,890...32,906,053
Ensembl chr12:33,124,994...33,155,269

G

ribosomal protein S26

ClinVar Annotator: match by term: Diamond-Blackfan anemia 10

PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More...

NCBI chr12:32,869,092...32,871,399
Ensembl chr12:33,119,551...33,121,920

G

sulfite oxidase

ClinVar Annotator: match by term: Diamond-Blackfan anemia 10

PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:28492532

NCBI chr12:32,907,456...32,915,788
Ensembl chr12:33,157,277...33,165,661

Diamond-Blackfan anemia 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein L26

ClinVar Annotator: match by term: Diamond-Blackfan anemia 11

PMID:22431104 PMID:25741868 PMID:28492532

NCBI chr17:43,274,839...43,282,606
Ensembl chr17:48,009,198...48,015,977

Diamond-Blackfan anemia 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NFKB inhibitor interacting Ras like 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition

PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205

NCBI chr 3:23,804,054...23,829,071
Ensembl chr 3:24,128,587...24,146,611

G

ribosomal protein L15

ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition

PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205

NCBI chr 3:23,829,041...23,832,838
Ensembl chr 3:24,152,479...24,157,337

Diamond-Blackfan anemia 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein S29

ClinVar Annotator: match by term: Diamond-Blackfan anemia 13

PMID:24829207 PMID:25741868 PMID:28492532

NCBI chr14:30,155,559...30,164,677

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TSR2 ribosome maturation factor

ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532

NCBI chr X:46,643,659...46,648,829
Ensembl chr X:54,875,696...54,880,809

Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein S26

ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 More...

NCBI chr12:32,869,092...32,871,399
Ensembl chr12:33,119,551...33,121,920

G

ribosomal protein S28

ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

PMID:24942156 PMID:25741868

NCBI chr19:7,607,197...7,608,113
Ensembl chr19:8,458,321...8,459,250

G

TSR2 ribosome maturation factor

ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

PMID:11424144 PMID:24942156

NCBI chr X:46,643,659...46,648,829
Ensembl chr X:54,875,696...54,880,809

Diamond-Blackfan anemia 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein L27

ClinVar Annotator: match by term: Diamond-Blackfan anemia 16

PMID:25424902 PMID:25741868 PMID:28492532

NCBI chr17:14,321,438...14,326,091
Ensembl chr17:14,548,809...14,553,728

Diamond-Blackfan anemia 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein S27

ClinVar Annotator: match by term: Diamond-Blackfan anemia 17

PMID:25424902 PMID:25741868

NCBI chr 1:129,347,650...129,349,050
Ensembl chr 1:132,975,795...132,977,192

Diamond-Blackfan anemia 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein L18

ClinVar Annotator: match by term: Diamond-Blackfan anemia 18

NCBI chr19:45,617,033...45,620,954
Ensembl chr19:54,209,173...54,213,293

Diamond-Blackfan anemia 19

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein L35

ClinVar Annotator: match by term: Diamond-Blackfan anemia 19

NCBI chr 9:95,978,395...95,982,568
Ensembl chr 9:124,496,145...124,500,271

Diamond-Blackfan anemia 20

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein S15a

ClinVar Annotator: match by term: Diamond-Blackfan anemia 20

NCBI chr16:19,489,898...19,497,202

Diamond-Blackfan Anemia 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HEAT repeat containing 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia 21

PMID:25741868 PMID:35213692

NCBI chr16:30,329,163...30,369,658
Ensembl chr16:49,212,645...49,251,043

Diamond-Blackfan anemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA polymerase III subunit A

ClinVar Annotator: match by term: Diamond-Blackfan anemia 3

NCBI chr10:74,496,121...74,550,054

G

ribosomal protein S24

ClinVar Annotator: match by term: Diamond-Blackfan anemia 3

PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 More...

NCBI chr10:74,554,301...74,561,240
Ensembl chr10:77,217,228...77,238,519

Diamond-Blackfan anemia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein S17

ClinVar Annotator: match by term: Diamond-Blackfan anemia 4

PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868

NCBI chr15:63,056,604...63,060,436

Diamond-Blackfan anemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

IQ motif containing G

ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More...

NCBI chr 3:195,316,220...195,396,328
Ensembl chr 3:205,185,927...205,268,692

G

ribosomal protein L35a

ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More...

NCBI chr 3:195,386,399...195,392,113
Ensembl chr 3:205,258,700...205,264,485

Diamond-Blackfan anemia 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

divergent protein kinase domain 1A

ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6

PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More...

NCBI chr 1:95,507,241...95,631,286
Ensembl chr 1:94,232,632...94,275,864

G

ribosomal protein L5

ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6

PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More...

NCBI chr 1:95,497,047...95,507,006
Ensembl chr 1:94,230,451...94,241,522

Diamond-Blackfan anemia 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein L11

ClinVar Annotator: match by term: Diamond-Blackfan anemia 7

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More...

NCBI chr 1:22,883,157...22,887,806
Ensembl chr 1:23,868,688...23,873,313

Diamond-Blackfan anemia 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acireductone dioxygenase 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia 8

NCBI chr2A:3,509,162...3,538,064
Ensembl chr2A:3,430,158...3,458,248

G

collectin subfamily member 11

ClinVar Annotator: match by term: Diamond-Blackfan anemia 8

NCBI chr2A:3,610,679...3,659,739
Ensembl chr2A:3,529,358...3,579,517

G

ribonuclease H1

ClinVar Annotator: match by term: Diamond-Blackfan anemia 8

NCBI chr2A:3,550,303...3,578,161
Ensembl chr2A:3,482,772...3,496,978

G

ribosomal protein S7

ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 More...

NCBI chr2A:3,593,350...3,599,106
Ensembl chr2A:3,512,079...3,517,785

G

trafficking protein particle complex subunit 12

ClinVar Annotator: match by term: Diamond-Blackfan anemia 8

NCBI chr2A:3,388,191...3,490,496
Ensembl chr2A:3,311,765...3,411,768

Diamond-Blackfan anemia 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

small ribosomal subunit protein eS10

ClinVar Annotator: match by term: Diamond-Blackfan anemia 9

PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532

NCBI chr 6:33,982,735...33,991,470

Diamond-Blackfan Anemia-Like

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythropoietin

ClinVar Annotator: match by term: Diamond-Blackfan anemia-like

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

IKAROS family zinc finger 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia-like

PMID:28492532 PMID:29681510 PMID:34162668

NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245

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 chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr16:52,977,879...52,994,496
Ensembl chr16:71,854,238...71,870,673

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029

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 chr14:76,910,943...76,992,969
Ensembl chr14:96,237,825...96,314,881

G

bradykinin receptor B1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr14:76,885,923...76,894,456

G

bradykinin receptor B2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253

G

chromosome 15 C14orf132 homolog

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr14:76,668,209...76,715,766
Ensembl chr14:95,992,446...96,040,079

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 chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD40 ligand

protein:increased expression:serum (human)

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

cut like homeobox 2

ClinVar Annotator: match by term: Thrombocythemia 1

PMID:20404132 PMID:25741868

NCBI chr12:108,600,286...108,975,588
Ensembl chr12:112,175,555...112,311,221

G

elastase, neutrophil expressed

protein:increased expression:plasma:

NCBI chr19:276,499...280,598

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr14:76,993,055...77,017,142
Ensembl chr14:96,329,936...96,339,378

G

Janus kinase 2

severity

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

CTD
MouseDO
RGD

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

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

interferon alpha-2

CTD Direct Evidence: therapeutic

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

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:14764528 More...

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

G

MYB proto-oncogene, transcription factor

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

NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:648,722...672,023

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

SH2B adaptor protein 3

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

PMID:15705783 PMID:20404132 PMID:23812944 PMID:25741868 PMID:27651169 More...

NCBI chr12:108,977,344...109,024,029

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr14:76,339,614...76,343,546
Ensembl chr14:95,664,120...95,667,375

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

thrombopoietin

ClinVar Annotator: match by term: Thrombocythemia 1

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

NCBI chr 3:181,409,038...181,416,986
Ensembl chr 3:189,891,025...189,897,429

G

TCL1 upstream neural differentiation-associated RNA

ClinVar Annotator: match by term: Thrombocythemia 1

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

G

von Willebrand factor

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

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 chr16:66,568,370...66,591,949
Ensembl chr16:85,905,334...85,929,073

familial erythrocytosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythropoietin receptor

no_association

ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign | ClinVar Annotator: match by term: Familial erythrocytosis, 1

OMIM
ClinVar
RGD

PMID:1653276 PMID:1954391 PMID:4052634 PMID:7795221 PMID:8093406 More...

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

G

insulin like 6

ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign

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

NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827

G

Janus kinase 2

ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign

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

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign

PMID:15705783 PMID:20843259 PMID:25741868 PMID:27651169 PMID:28484264 More...

NCBI chr12:108,977,344...109,024,029

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Congenital Erythrocytosis

PMID:15642664 PMID:25741868 PMID:28492532 PMID:29891534

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

familial erythrocytosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Chuvash polycythemia

PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More...

NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545

G

FA complementation group D2

ClinVar Annotator: match by term: Chuvash polycythemia

PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More...

NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190

G

FANCD2 opposite strand

ClinVar Annotator: match by term: Chuvash polycythemia

PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More...

NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702

G

Janus kinase 2

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 | ClinVar Annotator: match by term: POLYCYTHEMIA, VHL-DEPENDENT

PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:7553625 More...

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

familial erythrocytosis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

egl-9 family hypoxia inducible factor 1

ClinVar Annotator: match by term: Erythrocytosis, familial, 3

PMID:9536098 PMID:16407130 PMID:17576681 PMID:17579185 PMID:17933562 More...

NCBI chr 1:206,915,541...206,976,656

familial erythrocytosis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelial PAS domain protein 1

ClinVar Annotator: match by term: Erythrocytosis, familial, 4

PMID:18184961 PMID:18378852 PMID:18508787 PMID:18650473 PMID:19208626 More...

NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560

familial erythrocytosis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythropoietin

ClinVar Annotator: match by term: Erythrocytosis, familial, 5

PMID:27651169 PMID:29514032

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

familial erythrocytosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hemoglobin subunit alpha 1

ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 | ClinVar Annotator: match by term: Erythrocytosis, familial, 7

PMID:11123 PMID:701083 PMID:701092 PMID:1390944 PMID:1428951 More...

Ensembl chr16:164,618...165,476

familial erythrocytosis 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bisphosphoglycerate mutase

ClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte | ClinVar Annotator: match by term: Hemolytic anemia due to diphosphoglycerate mutase deficiency

PMID:152321 PMID:1421379 PMID:2542247 PMID:15054810 PMID:25015942 More...

NCBI chr 7:126,605,151...126,637,934
Ensembl chr 7:139,123,318...139,144,487

Familial Myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Familial myelofibrosis

NCBI chr12:108,977,344...109,024,029

G

vacuolar protein sorting 45 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:125,412,566...125,490,615
Ensembl chr 1:129,063,462...129,142,990

Fanconi anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891

G

ankyrin repeat domain containing 11

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311

G

aminopeptidase O (putative)

ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia

PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More...

NCBI chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201

G

adaptor related protein complex 1 subunit sigma 2

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:8,449,885...8,478,932
Ensembl chr X:15,807,476...15,836,172

G

ankyrin repeat and SOCS box containing 11

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:7,909,843...7,942,277
Ensembl chr X:15,192,234...15,225,022

G

ankyrin repeat and SOCS box containing 9

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:7,869,174...7,896,783
Ensembl chr X:15,152,698...15,179,182

G

BMX non-receptor tyrosine kinase

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:8,129,158...8,184,910
Ensembl chr X:15,410,655...15,466,415

G

BRCA2 DNA repair associated

susceptibility

DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia

PMID:11030417 PMID:11185744 PMID:12065746 PMID:12491487 PMID:12955716 More...

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

BRCA1 interacting helicase 1

ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia

PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 More...

NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462

G

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Fanconi anemia

PMID:17436244 PMID:28492532

NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545

G

chromosome 15 C14orf28 homolog

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr14:25,514,741...25,524,710
Ensembl chr14:43,843,018...43,852,917

G

carbonic anhydrase 5B

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr  X:8,325,881...8,410,506
Ensembl chr  X:15,658,816...15,764,323
Ensembl chr  X:15,658,816...15,764,323

G

cyclin dependent kinase 10

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,445,200...70,455,476
Ensembl chr16:90,109,492...90,119,532

G

Putative CENPB DNA-binding domain-containing protein 1

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,733,097...70,734,789
Ensembl chr16:90,397,513...90,398,076

G

charged multivesicular body protein 1A

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,398,021...70,411,383
Ensembl chr16:90,003,892...90,017,653

G

collectrin, amino acid transport regulator

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:8,255,666...8,293,354
Ensembl chr X:15,535,069...15,575,268

G

copine 7

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,327,952...70,349,898
Ensembl chr16:89,936,172...89,955,115

G

dysbindin domain containing 1

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,762,881...70,777,339
Ensembl chr16:90,426,028...90,441,525

G

differentially expressed in FDCP 8 homolog

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,710,131...70,730,332
Ensembl chr16:90,375,667...90,394,225

G

dipeptidase 1

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,365,900...70,392,377
Ensembl chr16:89,975,105...89,997,978

G

FA complementation group A

disease_progression

DNA:deletion
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia

PMID:1792455 PMID:1927896 PMID:2472832 PMID:08896563 PMID:09371798 More...

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

G

FA complementation group B

ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia

PMID:9536098 PMID:15502827 PMID:16199547 PMID:17576681 PMID:23613520 More...

NCBI chr X:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817

G

FA complementation group C

onset

DNA:deletion: :322delG (human)
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia

PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More...

NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198

G

FA complementation group D2

ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia

PMID:9536098 PMID:11239453 PMID:14695169 PMID:16199547 PMID:16280053 More...

NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190

G

FANCD2 opposite strand

ClinVar Annotator: match by term: Fanconi anemia

PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 More...

NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702

G

FA complementation group E

ClinVar Annotator: match by term: Fanconi anemia

PMID:11001585 PMID:17924555 PMID:24728327 PMID:25741868 PMID:28492532 More...

NCBI chr 6:35,012,076...35,027,018

G

FA complementation group F

ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia

PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More...

NCBI chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176

G

FA complementation group G

ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia

PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More...

NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648

G

FA complementation group I

ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia

PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 More...

NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271

G

FA complementation group L

ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia

PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More...

NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496

G

FA complementation group M

ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia

PMID:2867840 PMID:9536098 PMID:16199547 PMID:17289582 PMID:17576681 More...

NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958

G

FKBP prolyl isomerase 3

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr14:25,732,308...25,750,885
Ensembl chr14:44,060,160...44,078,742

G

fms related receptor tyrosine kinase 3 ligand

protein:increased expression:serum,plasma:

NCBI chr19:46,486,169...46,499,008

G

fibrous sheath CABYR binding protein

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr14:25,124,746...25,127,510

G

growth arrest specific 8

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,777,446...70,806,437
Ensembl chr16:90,444,141...90,467,849

G

glutathione S-transferase mu 1

disease_progression

Ensembl chr 1:127,979,238...128,010,411

G

interferon gamma

protein:increased expression:plasma

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

interleukin 10

protein:increased expression:plasma

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

kelch like family member 28

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr14:25,540,348...25,578,933
Ensembl chr14:43,869,220...43,905,989

G

melanocortin 1 receptor

ClinVar Annotator: match by term: Fanconi anemia

PMID:9721219 PMID:28492532 PMID:29098742

NCBI chr16:70,676,447...70,697,636

G

motile sperm domain containing 2

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:7,501,222...7,549,523
Ensembl chr X:14,785,436...14,828,978

G

MX dynamin like GTPase 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:27,756,768...27,795,307
Ensembl chr21:41,095,928...41,123,019

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia

PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:24136930 More...

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

G

phosphatidylinositol glycan anchor biosynthesis class A

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:7,946,158...7,962,320
Ensembl chr X:15,228,881...15,244,949

G

pirin

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:8,011,382...8,121,994
Ensembl chr X:15,294,099...15,404,004

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia

PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More...

NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739

G

perforin 1

NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070

G

pre-mRNA processing factor 39

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr14:25,700,636...25,732,012
Ensembl chr14:44,027,452...44,059,865

G

patched 1

ClinVar Annotator: match by term: Fanconi anemia

PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

RAD51 paralog C

ClinVar Annotator: match by term: Fanconi anemia

PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 PMID:21750962 More...

NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701

G

ribosomal protein L13

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,312,241...70,314,956

G

SLX4 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia

PMID:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 More...

NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842

G

spermatogenesis associated 2 like

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,455,469...70,460,872
Ensembl chr16:90,120,104...90,125,303

G

spermatogenesis associated 33

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,411,406...70,425,847
Ensembl chr16:90,017,678...90,031,020

G

spire type actin nucleation factor 2

ClinVar Annotator: match by term: Fanconi anemia

PMID:9721219 PMID:19367192 PMID:25741868 PMID:28492532 PMID:29098742

NCBI chr16:70,580,030...70,634,143
Ensembl chr16:90,273,160...90,299,061

G

transcription factor 25

ClinVar Annotator: match by term: Fanconi anemia

PMID:9721219 PMID:28492532 PMID:29098742

NCBI chr16:70,636,413...70,675,841
Ensembl chr16:90,298,175...90,340,048

G

tumor necrosis factor

protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism

PMID:8438880 PMID:22628295 PMID:24021704

RGD:10450524 RGD:11049161

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TOG array regulator of axonemal microtubules 1

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042

G

ubiquitin specific peptidase 1

NCBI chr 1:61,694,775...61,710,216
Ensembl chr 1:63,510,196...63,525,446

G

valosin containing protein

ClinVar Annotator: match by term: Fanconi anemia

PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More...

NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588

G

vascular endothelial growth factor D

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:7,972,227...8,011,263
Ensembl chr X:15,254,945...15,293,704

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Fanconi anemia

PMID:17436244 PMID:28492532

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

G

VPS9 domain containing 1

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr16:70,465,158...70,479,141
Ensembl chr16:90,130,415...90,144,412

G

VRK serine/threonine kinase 2

ClinVar Annotator: match by term: Fanconi anemia

PMID:12973351 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 More...

NCBI chr2A:58,158,347...58,271,245
Ensembl chr2A:59,305,233...59,419,895

G

zinc finger protein 276

ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia

PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More...

NCBI chr16:70,478,127...70,498,672
Ensembl chr16:90,147,474...90,165,192

G

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

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:8,413,483...8,447,340
Ensembl chr X:15,772,064...15,804,913

Fanconi anemia complementation group A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminopeptidase O (putative)

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 More...

NCBI chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17279547 More...

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

G

cyclin dependent kinase 10

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr16:70,445,200...70,455,476
Ensembl chr16:90,109,492...90,119,532

G

charged multivesicular body protein 1A

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr16:70,398,021...70,411,383
Ensembl chr16:90,003,892...90,017,653

G

copine 7

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr16:70,327,952...70,349,898
Ensembl chr16:89,936,172...89,955,115

G

dystrophin

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733

G

dipeptidase 1

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr16:70,365,900...70,392,377
Ensembl chr16:89,975,105...89,997,978

G

FA complementation group A

ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:08896563 More...

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

G

FA complementation group B

ClinVar Annotator: match by term: Fanconi anemia, group A

PMID:25741868 PMID:28492532

NCBI chr X:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817

G

FA complementation group C

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:08128956 PMID:08348157 PMID:08844212 PMID:8882868 PMID:9521584 More...

NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198

G

FA complementation group D2

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:24728327 PMID:25168418 PMID:25741868 PMID:25927356 PMID:28492532

NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190

G

FANCD2 opposite strand

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:25741868 PMID:25927356 PMID:28492532

NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702

G

FA complementation group G

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:25741868 PMID:28492532

NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648

G

FA complementation group I

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:25741868 PMID:28492532

NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271

G

FA complementation group L

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More...

NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496

G

FA complementation group M

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More...

NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958

G

SLX4 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A

PMID:21240277 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 More...

NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842

G

spermatogenesis associated 2 like

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr16:70,455,469...70,460,872
Ensembl chr16:90,120,104...90,125,303

G

spermatogenesis associated 33

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr16:70,411,406...70,425,847
Ensembl chr16:90,017,678...90,031,020

G

VPS9 domain containing 1

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr16:70,465,158...70,479,141
Ensembl chr16:90,130,415...90,144,412

G

VRK serine/threonine kinase 2

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More...

NCBI chr2A:58,158,347...58,271,245
Ensembl chr2A:59,305,233...59,419,895

G

zinc finger protein 276

ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 More...

NCBI chr16:70,478,127...70,498,672
Ensembl chr16:90,147,474...90,165,192

G

zinc finger protein 469

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390

Fanconi anemia complementation group B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group B

ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B

PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 More...

NCBI chr X:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817

Fanconi anemia complementation group C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminopeptidase O (putative)

ClinVar Annotator: match by term: Fanconi anemia complementation group C

PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More...

NCBI chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201

G

DNA cross-link repair 1B

ClinVar Annotator: match by term: Fanconi anemia complementation group C

NCBI chr 1:88,643,664...88,651,962
Ensembl chr 1:123,692,915...123,701,403

G

FA complementation group C

ClinVar Annotator: match by term: Fanconi anemia complementation group C

PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More...

NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198

Fanconi anemia complementation group D1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Fanconi anemia complementation group D1

PMID:1234 PMID:184056 PMID:251866 PMID:278235 PMID:668580 More...

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

Fanconi anemia complementation group D2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group D2

ClinVar Annotator: match by term: Fanconi anemia complementation group D2

PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 More...

NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190

G

FANCD2 opposite strand

ClinVar Annotator: match by term: Fanconi anemia complementation group D2

PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:23285130 More...

NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702

Fanconi anemia complementation group E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group E

ClinVar Annotator: match by term: Fanconi anemia complementation group E

PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More...

NCBI chr 6:35,012,076...35,027,018

Fanconi anemia complementation group F

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group F

ClinVar Annotator: match by term: Fanconi anemia complementation group F

PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More...

NCBI chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176

Fanconi anemia complementation group G

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group G

ClinVar Annotator: match by term: Fanconi anemia complementation group G

PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More...

NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648

G

valosin containing protein

ClinVar Annotator: match by term: Fanconi anemia complementation group G

PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More...

NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588

Fanconi anemia complementation group I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group I

ClinVar Annotator: match by term: Fanconi anemia complementation group I

PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 More...

NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: Fanconi anemia complementation group I

PMID:18414213 PMID:22778927 PMID:23524600 PMID:25741868 PMID:26467025 More...

NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739

Fanconi anemia complementation group J

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 interacting helicase 1

susceptibility

ClinVar Annotator: match by term: Fanconi anemia complementation group J

PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 More...

NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462

Fanconi anemia complementation group L

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group L

ClinVar Annotator: match by term: Fanconi anemia complementation group L

PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More...

NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496

G

VRK serine/threonine kinase 2

ClinVar Annotator: match by term: Fanconi anemia complementation group L

PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More...

NCBI chr2A:58,158,347...58,271,245
Ensembl chr2A:59,305,233...59,419,895

Fanconi Anemia Complementation Group M

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group M

ClinVar Annotator: match by term: Fanconi anemia, complementation group M

PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:28492532 More...

NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958

Fanconi anemia complementation group N

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

partner and localizer of BRCA2

susceptibility

ClinVar Annotator: match by term: Fanconi anemia complementation group N

PMID:100849 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 More...

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

Fanconi anemia complementation group O

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heat shock transcription factor 5

ClinVar Annotator: match by term: Fanconi anemia complementation group O

NCBI chr17:52,495,458...52,563,332
Ensembl chr17:57,352,414...57,416,968

G

septin-4

ClinVar Annotator: match by term: Fanconi anemia complementation group O

NCBI chr17:52,595,185...52,607,020
Ensembl chr17:57,448,904...57,472,690

G

myotubularin related protein 4

ClinVar Annotator: match by term: Fanconi anemia complementation group O

NCBI chr17:52,564,455...52,592,899
Ensembl chr17:57,418,229...57,446,545

G

RAD51 paralog C

ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition

PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 More...

NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701

G

ring finger protein 43

ClinVar Annotator: match by term: Fanconi anemia complementation group O

NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748

G

testis expressed 14, intercellular bridge forming factor

ClinVar Annotator: match by term: Fanconi anemia complementation group O

NCBI chr17:52,627,335...52,768,926
Ensembl chr17:57,480,369...57,621,055

Fanconi anemia complementation group P

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SLX4 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Fanconi anemia complementation group P

PMID:9536098 PMID:17576681 PMID:21240275 PMID:21240277 PMID:21805310 More...

NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842

Fanconi anemia complementation group Q

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 4, endonuclease catalytic subunit

ClinVar Annotator: match by term: Fanconi anemia complementation group Q

PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More...

NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496

Fanconi anemia complementation group R

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAD51 recombinase

ClinVar Annotator: match by term: Fanconi anemia complementation group R

PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308

NCBI chr15:19,638,310...19,672,474
Ensembl chr15:37,891,056...37,925,207

Fanconi Anemia Complementation Group S

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S

PMID:1514655 PMID:2618727 PMID:3347199 PMID:7493024 PMID:7545954 More...

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

Fanconi anemia complementation group T

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing G protein-coupled receptor 6

ClinVar Annotator: match by term: Fanconi anemia complementation group T

NCBI chr 1:177,789,079...177,917,234
Ensembl chr 1:182,101,420...182,214,825

G

ubiquitin conjugating enzyme E2 T

ClinVar Annotator: match by term: Fanconi anemia complementation group T

PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532

NCBI chr 1:177,929,298...177,939,027
Ensembl chr 1:182,227,166...182,236,712

Fanconi anemia complementation group U

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

X-ray repair cross complementing 2

ClinVar Annotator: match by term: Fanconi anemia complementation group U

PMID:11118202 PMID:19690184 PMID:22232082 PMID:22464251 PMID:23054243 More...

NCBI chr 7:144,229,031...144,256,854
Ensembl chr 7:156,378,685...156,406,516

Fanconi anemia complementation group V

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitotic arrest deficient 2 like 2

ClinVar Annotator: match by term: Fanconi anemia complementation group V

NCBI chr 1:10,436,532...10,454,023
Ensembl chr 1:11,654,963...11,661,526

Fanconi Anemia Complementation Group W

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ring finger and WD repeat domain 3

ClinVar Annotator: match by term: Fanconi anemia, complementation group W

PMID:25741868 PMID:26474068 PMID:28492532 PMID:28691929 PMID:33044890

NCBI chr16:55,187,178...55,233,265
Ensembl chr16:74,541,450...74,586,951

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 chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523

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

PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More...

NCBI chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994

hypermanganesemia with dystonia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 30 member 10

ClinVar Annotator: match by term: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease | ClinVar Annotator: match by term: Hypermanganesemia with dystonia 1 | ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis

PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22934317 More...

NCBI chr 1:195,480,707...195,528,243
Ensembl chr 1:200,522,554...200,566,228

Hypochromic Microcytic Anemia with Iron Overload 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 11 member 2

ClinVar Annotator: match by term: SLC11A2-related condition

PMID:25741868 PMID:28492532 PMID:35457224

NCBI chr12:37,726,158...37,774,554
Ensembl chr12:38,629,686...38,677,377

juvenile myelomonocytic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 12

disease_progression

NCBI chr 6:149,058,350...149,176,710
Ensembl chr 6:153,757,081...153,873,925

G

Rho GTPase activating protein 26

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

NCBI chr 5:138,125,142...138,585,550
Ensembl chr 5:144,234,913...144,686,252

G

ASXL transcriptional regulator 1

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:25741868 PMID:28492532 PMID:32581362

NCBI chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18698078 PMID:19387008 More...

NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

G

colony stimulating factor 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:9389708 PMID:22315502

NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

fms related receptor tyrosine kinase 3

OMIM:607785

NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:125,526,537...125,535,649
Ensembl chr 3:132,890,508...132,899,035

G

Janus kinase 3

disease_progression

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

neurofibromin 1

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 More...

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia

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

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

Rac family small GTPase 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:18,138,517...18,159,023
Ensembl chr22:35,973,229...35,992,026

G

RAS related

CTD Direct Evidence: marker/mechanism

NCBI chr19:46,649,892...46,654,754
Ensembl chr19:55,569,749...55,573,721

G

RAS related 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:14,381,173...14,462,192
Ensembl chr11:14,073,679...14,159,611

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:23832011 PMID:26457647

NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:108,977,344...109,024,029

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr X:8,413,483...8,447,340
Ensembl chr X:15,772,064...15,804,913

Leukemoid Reaction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Janus kinase 3

ClinVar Annotator: match by term: Leukemoid reaction

PMID:18397343 PMID:20400977 PMID:28492532

NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964

Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9 like

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

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

NCBI chr 7:85,086,661...85,104,983

multiple myeloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

treatment

PMID:16917002 PMID:26314844

RGD:11081075 RGD:11081144

NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157

G

angiotensin I converting enzyme

protein:increased activity:serum

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

albumin

disease_progression

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr17:32,725,632...32,753,021
Ensembl chr17:38,003,362...38,030,715

G

apolipoprotein E

treatment

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr14:38,890,688...38,965,928
Ensembl chr14:57,159,399...57,233,825

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339

G

beta-2-microglobulin

ClinVar Annotator: match by term: Myelomatosis

NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991

G

BRCA1 associated protein 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

BCL2 like 1

CTD Direct Evidence: marker/mechanism

PMID:12429644 PMID:14656874

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

G

BCL2 like 10

NCBI chr15:31,049,509...31,057,273
Ensembl chr15:49,376,576...49,380,109

G

BCL6 corepressor like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:119,108,049...119,185,165
Ensembl chr X:129,403,888...129,479,297

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634

G

B-Raf proto-oncogene, serine/threonine kinase

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

PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 More...

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:89,678,431...89,681,177
Ensembl chr12:92,992,584...92,994,038

G

Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

G

chromobox 7

susceptibility

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

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

cellular communication network factor 1

exacerbates

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

PMID:25061178 PMID:28035364

RGD:329845528 RGD:329845546

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

G

cyclin D1

susceptibility

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

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

NCBI chr11:64,737,006...64,750,353

G

cyclin D2

NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551

G

cyclin D3

NCBI chr 6:41,518,421...41,630,103
Ensembl chr 6:42,820,569...42,827,498

G

CD40 molecule

treatment

human cells in a mouse model

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD40 ligand

treatment
disease_progression

protein:increased expression:serum (human)

PMID:15565183 PMID:22403003 PMID:27243341

RGD:11352240 RGD:11352251 RGD:11352268

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

CD46 molecule

protein:increased expression:plasma cell (human)

NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046

G

CD86 molecule

severity

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

PMID:16611307 PMID:22705596

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

cyclin dependent kinase 4

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

cyclin dependent kinase inhibitor 2A

disease_progression

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

PMID:12681979 PMID:16008847

NCBI chr 9:21,803,862...21,831,322

G

cyclin dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:50,214,767...50,221,465
Ensembl chr 1:51,704,528...51,718,374

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

cereblon

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:3,091,328...3,121,364
Ensembl chr 3:3,190,979...3,225,345

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629

G

cytochrome P450 family 1 subfamily A member 1

susceptibility

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

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

G

cytochrome P450 family 2 subfamily C member 19

no_association
treatment

DNA:polymorphisms: :

PMID:17666363 PMID:20684753

RGD:11352748 RGD:11352804

NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065

G

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

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:53,982,914...54,011,076
Ensembl chr13:72,760,610...72,787,325

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

desmoglein 2

disease_progression

NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786

G

eukaryotic translation initiation factor 1A X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:12,743,907...12,764,313
Ensembl chr X:20,103,872...20,123,464

G

endoglin

severity

protein:increased expression:serum:

NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641

G

epoxide hydrolase 1

susceptibility
no_association

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

PMID:16949155 PMID:19736056 PMID:24521996

RGD:11252116 RGD:11252121 RGD:11252122

NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

ETS2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808

G

Fas ligand

disease_progression

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Myelomatosis

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

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

fibrinogen gamma chain

treatment

NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237

G

fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940

G

fms related receptor tyrosine kinase 3 ligand

disease_progression

protein:increased expression:serum:

NCBI chr19:46,486,169...46,499,008

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231

G

glutathione peroxidase 1

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

NCBI chr 5:146,447,939...146,456,476

G

glutathione S-transferase mu 1

severity
no_association

PMID:15136237 PMID:17653713

RGD:10450826 RGD:10450846

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase pi 1

no_association
treatment
disease_progression

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

PMID:17512053 PMID:18061666 PMID:23953887

RGD:10755413 RGD:10755419 RGD:11075094

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:25,992,845...26,006,585
Ensembl chr 6:26,652,151...26,652,810
Ensembl chr 6:26,652,151...26,652,810

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054

G

homeostatic iron regulator

susceptibility

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

NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591

G

hexokinase 1

NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045

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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

PMID:7686390 PMID:7834632

RGD:11354981 RGD:11520780

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Myelomatosis

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelomatosis

PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More...

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

insulin like growth factor 2 receptor

protein:increased expression:serum,urine:

NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762

G

interleukin 10

disease_progression

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

PMID:11022130 PMID:11307152

RGD:11041888 RGD:11049458

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

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 chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 beta

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

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

no_association

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

PMID:10848780 PMID:17926179

RGD:11051973 RGD:11522764

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 4 receptor

susceptibility

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

Ensembl chr16:27,642,702...27,737,445

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chr 7:23,415,922...23,420,767

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612

G

interferon regulatory factor 4

disease_progression
treatment

DNA:translocation
CTD Direct Evidence: marker/mechanism

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

RGD:11526161 RGD:11530019 RGD:11530055

NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654

G

interferon regulatory factor 8

DNA:hypermethylation

NCBI chr16:66,568,370...66,591,949
Ensembl chr16:85,905,334...85,929,073

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:45,377,609...45,440,025
Ensembl chr X:53,515,886...53,548,785

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

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 chr13:89,336,434...89,347,418
Ensembl chr13:108,475,820...108,478,555

G

interferon alpha-2

CTD Direct Evidence: therapeutic

PMID:3597002 PMID:8833401 PMID:9234591

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

G

cytochrome P450 2D6-like

no_association

DNA:polymorphisms: :

NCBI chr22:23,022,449...23,031,627

G

histone H2A type 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:27,695,226...27,696,385
Ensembl chr 6:28,342,376...28,342,768

G

E3 SUMO-protein ligase RanBP2

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

NCBI chr2A:94,961,024...95,029,437

G

histone H2A type 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:27,722,059...27,722,862
Ensembl chr 6:28,396,657...28,397,049

G

low affinity immunoglobulin gamma Fc region receptor II-a

disease_progression
susceptibility

DNA:polymorphism: :rs1801274(human)

PMID:17315188 PMID:25850245

RGD:11040778 RGD:11040938

NCBI chr 1:136,892,311...136,906,450

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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chr 1:125,918,760...125,923,952
Ensembl chr 1:129,566,827...129,572,086

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 4:110,879,137...110,905,131
Ensembl chr 4:121,431,026...121,458,392

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr14:2,315,868...2,329,460
Ensembl chr14:20,392,665...20,405,906

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr15:20,560,842...20,710,269
Ensembl chr15:38,839,708...38,948,847

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:49,818,538...49,835,713
Ensembl chr 3:51,054,795...51,072,401

G

methylenetetrahydrofolate reductase

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

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

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

NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

MYD88 innate immune signal transduction adaptor

ClinVar Annotator: match by term: Myelomatosis

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572

G

nuclear receptor corepressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:121,913,368...122,155,031
Ensembl chr12:126,201,779...126,372,745

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

NFKB inhibitor alpha

DNA:polymorphism

PMID:12377412 PMID:16540234

RGD:2298895 RGD:2298898

NCBI chr14:16,155,331...16,158,588

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

G

non-POU domain containing octamer binding

exacerbates

mRNA:increased expression: (human)

NCBI chr X:60,547,277...60,564,845
Ensembl chr X:70,602,456...70,619,956

G

notch receptor 2

protein:increased expression:bone marrow (human)

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

G

NADPH oxidase 1

protein:increased expression:serum

NCBI chr X:90,046,023...90,076,968
Ensembl chr X:100,182,398...100,215,192

G

NAD(P)H quinone dehydrogenase 1

no_association

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

PMID:16949155 PMID:18061666 PMID:18156703

RGD:10755419 RGD:10769348

NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731

G

NRAS proto-oncogene, GTPase

treatment

DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis

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

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:103,642,744...103,720,352
Ensembl chr12:107,037,627...107,113,163

G

P2Y receptor family member 8

ClinVar Annotator: match by term: Multiple myeloma

Ensembl chr X:1,599,411...1,600,490

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

platelet factor 4

ameliorates

NCBI chr 4:50,208,806...50,210,570
Ensembl chr 4:56,041,833...56,043,750

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Myelomatosis

PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More...

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

NCBI chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883

G

RNA polymerase I subunit G

sexual_dimorphism

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

NCBI chr19:42,354,919...42,359,537
Ensembl chr19:50,951,038...50,953,826

G

paraoxonase 1

susceptibility
severity
treatment

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

PMID:15136237 PMID:22348216 PMID:25520116

RGD:10450846 RGD:11040544 RGD:11552578

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018

G

psoriasis susceptibility 1 candidate 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,883,467...30,888,231
Ensembl chr 6:31,748,923...31,750,739

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Myelomatosis

PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More...

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

RB binding protein 8, endonuclease

exacerbates

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

NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

NCBI chr 3:136,554,315...136,576,682
Ensembl chr 3:144,153,937...144,176,209

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

Ensembl chr 8:144,267,101...144,276,985

G

roundabout guidance receptor 1

ameliorates

NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308

G

RUNX family transcription factor 1

mRNA:splice variant

NCBI chr21:21,159,586...21,423,946
Ensembl chr21:34,530,956...34,788,544

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:33,224,200...33,282,018
Ensembl chr20:34,341,367...34,398,314

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:131,936,397...132,082,670
Ensembl chr 6:136,033,851...136,180,121

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:108,977,344...109,024,029

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

secreted protein acidic and cysteine rich

disease_progression

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

PMID:18172295 PMID:23699600

NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750

G

secreted phosphoprotein 1

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

Ensembl chr19:1,582,297...1,622,025

G

telomerase reverse transcriptase

Ensembl chr 5:1,300,960...1,338,872

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr2A:74,058,948...74,180,046
Ensembl chr2A:75,568,636...75,682,701

G

transferrin receptor

treatment

NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998

G

transforming growth factor beta 1

disease_progression

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

PMID:22560388 PMID:23699600

RGD:11073605 RGD:11073614

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

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 chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 10a

treatment

NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053

G

TNF receptor superfamily member 17

NCBI chr16:10,903,795...10,906,542
Ensembl chr16:12,333,254...12,336,219

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822

G

tumor protein p53

disease_progression
treatment

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

PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More...

RGD:11073716 RGD:11073728 RGD:11075073

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:3,069,858...3,095,006
Ensembl chr 3:3,173,943...3,194,672

G

thymidylate synthetase

treatment
no_association

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

PMID:17512053 PMID:17655928

RGD:11075094 RGD:11075095

NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,152,261...41,864,865
Ensembl chr 3:41,568,907...42,121,959

G

vascular endothelial growth factor A

susceptibility

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

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

xanthine dehydrogenase

protein:increased expression:serum

NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455

G

exportin 5

severity

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

NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029

G

X-ray repair cross complementing 3

disease_progression

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

NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

NCBI chr 5:31,927,463...32,202,394
Ensembl chr 5:32,246,320...32,521,490

G

X-ray repair cross complementing 5

susceptibility

DNA:SNP:3'-UTR (human)

NCBI chr2B:103,371,459...103,468,419
Ensembl chr2B:221,972,742...222,071,235

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chr20:59,575,703...59,596,447
Ensembl chr20:61,116,645...61,135,769

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,859,491...80,903,651

myelodysplastic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 2/3 complex subunit 1B

treatment

NCBI chr 7:91,348,120...91,368,299
Ensembl chr 7:104,861,582...104,870,369

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 chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453

G

autophagy related 7

OMIM:614286

NCBI chr 3:11,208,600...11,488,757
Ensembl chr 3:11,554,100...11,833,398

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

BRCA1 associated protein 1

OMIM:614286

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

BCL2 like 10

treatment
susceptibility

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

PMID:21760590 PMID:24047476

RGD:11058140 RGD:14392809

NCBI chr15:31,049,509...31,057,273
Ensembl chr15:49,376,576...49,380,109

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479

G

CD40 molecule

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

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

cyclin dependent kinase inhibitor 1B

DNA:deletion: :

NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

G

cyclin dependent kinase inhibitor 2A

severity

DNA:hypermethylation: :

NCBI chr 9:21,803,862...21,831,322

G

cyclin dependent kinase inhibitor 2B

treatment
disease_progression

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

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

RGD:11251750 RGD:11252169 RGD:11252195

NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156

G

CASP8 and FADD like apoptosis regulator

CTD Direct Evidence: marker/mechanism

PMID:14562111 PMID:16105982

NCBI chr2B:88,373,057...88,429,959
Ensembl chr2B:206,528,943...206,577,045

G

CREB binding protein

OMIM:614286

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

colony stimulating factor 3 receptor

disease_progression

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

PMID:12670333 PMID:15644419

RGD:10450471 RGD:10450504

NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958

G

DEAD-box helicase 41

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

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

NCBI chr 5:172,812,755...172,818,217
Ensembl chr 5:179,873,626...179,884,402

G

DEAD-box helicase 42

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

NCBI chr17:57,854,197...57,898,820
Ensembl chr17:62,998,505...63,045,904

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:81,348,380...81,356,607
Ensembl chr14:100,654,965...100,668,019

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972

G

DNA methyltransferase 3 alpha

disease_progression

DNA:missense mutation:exon:p.R882 (human)
ClinVar Annotator: match by term: Myelodysplastic syndrome
DNA:mutations:cds:

PMID:21067377 PMID:21415852 PMID:21518476 PMID:22066015 PMID:22160010 More...

RGD:11041122 RGD:11041124

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

DNA methyltransferase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

G

early growth response 1

OMIM:614286

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

erythropoietin

CTD Direct Evidence: therapeutic

PMID:12670338 PMID:16076383

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

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 chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

ETS variant transcription factor 6

DNA:deletion: :
DNA:translocation: :

PMID:9171997 PMID:12203785 PMID:18476590

RGD:10450601 RGD:10450605 RGD:1581019

NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

PMID:20601954 PMID:21125401 PMID:22869879

RGD:10450880 RGD:10450887

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

Fas cell surface death receptor

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

PMID:9557605 PMID:15686130

RGD:11049447 RGD:11049448

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fas ligand

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

PMID:9557605 PMID:15686130

RGD:11049447 RGD:11049448

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

Fc gamma receptor IIIa

NCBI chr 1:137,027,943...137,036,738

G

fms related receptor tyrosine kinase 3

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

NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940

G

GATA binding protein 1

disease_progression
severity

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

RGD
MouseDO
CTD

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

RGD:10450734 RGD:10450752 RGD:10450753

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

G

GATA binding protein 2

severity

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

RGD
OMIM
ClinVar

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

NCBI chr 3:125,526,537...125,535,649
Ensembl chr 3:132,890,508...132,899,035

G

growth factor independent 1 transcriptional repressor

mRNA:decreased expression:bone marrow:

NCBI chr 1:95,139,171...95,151,054
Ensembl chr 1:93,876,245...93,883,528

G

G protein subunit beta 1

ClinVar Annotator: match by term: Myelodysplastic syndromes

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

NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614

G

glutathione S-transferase mu 1

susceptibility
treatment

PMID:15595630 PMID:16620556

RGD:10450800 RGD:10450836

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase pi 1

susceptibility

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

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410

G

homeostatic iron regulator

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

PMID:12624489 PMID:17001480

NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Myelodysplastic syndromes

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

isocitrate dehydrogenase (NADP(+)) 1

disease_progression

DNA:mutation: :
ClinVar Annotator: match by term: Myelodysplastic syndromes

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelodysplastic syndromes

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

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

interleukin 1 beta

mRNA:increased expression:bone marrow

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Myelodysplasia

PMID:25741868 PMID:28492532

NCBI chr10:6,053,549...6,103,863

G

integrin subunit beta 3

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

G

lysine methyltransferase 2E (inactive)

NCBI chr 7:97,001,250...97,099,956
Ensembl chr 7:109,734,808...109,832,851

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

leucine rich repeat containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chr 1:177,789,079...177,917,234
Ensembl chr 1:182,101,420...182,214,825

G

core histone macro-H2A.1

OMIM:614286

NCBI chr 5:130,727,065...130,791,932
Ensembl chr 5:136,868,521...136,933,834

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Myelodysplastic syndromes

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

LYL1 basic helix-loop-helix family member

CTD Direct Evidence: marker/mechanism

NCBI chr19:12,660,548...12,664,513
Ensembl chr19:13,407,596...13,409,309

G

MDM2 proto-oncogene

no_association

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

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322

G

MYB proto-oncogene like 2

OMIM:614286

NCBI chr20:40,005,482...40,053,324
Ensembl chr20:41,099,368...41,146,423

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

nucleophosmin 1

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

PMID:15659725 PMID:20026798 PMID:32581362

NCBI chr 5:166,735,904...166,756,321
Ensembl chr 5:173,490,197...173,510,656

G

NAD(P)H quinone dehydrogenase 1

no_association

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

NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731

G

NRAS proto-oncogene, GTPase

disease_progression

ClinVar Annotator: match by term: Myelodysplastic syndromes

PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 More...

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

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 chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019

G

prostate transmembrane protein, androgen induced 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:53,989,384...54,052,151
Ensembl chr20:55,267,089...55,329,347

G

DNA polymerase gamma, catalytic subunit

OMIM:614286

NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739

G

RAP1 GTPase activating protein

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

NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405

G

RUNX family transcription factor 1

disease_progression

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

NCBI chr21:21,159,586...21,423,946
Ensembl chr21:34,530,956...34,788,544

G

sterile alpha motif domain containing 9 like

OMIM:614286

NCBI chr 7:85,086,661...85,104,983

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

PMID:21909114 PMID:21995386 PMID:23395771 PMID:25741868

NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346

G

splicing factor 3b subunit 2

ClinVar Annotator: match by term: Myelodysplastic syndromes

NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772

G

solute carrier family 22 member 5

mRNA:decreased expression:PBMCs (human)

NCBI chr 5:127,791,984...127,817,870
Ensembl chr 5:133,954,678...133,979,066

G

sphingomyelin phosphodiesterase 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:48,734,664...48,825,241
Ensembl chr16:68,131,905...68,142,871

G

sphingosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:70,331,370...70,336,043
Ensembl chr17:75,883,329...75,886,481

G

serine and arginine rich splicing factor 11

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

NCBI chr 1:69,441,043...69,488,427
Ensembl chr 1:71,442,600...71,471,361

G

serine and arginine rich splicing factor 2

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

NCBI chr17:70,809,931...70,813,191
Ensembl chr17:76,375,957...76,379,759

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

NCBI chr X:113,150,853...113,293,395
Ensembl chr X:123,389,162...123,472,474

G

telomerase reverse transcriptase

severity

ClinVar Annotator: match by term: Myelodysplasia

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

Ensembl chr 5:1,300,960...1,338,872

G

tet methylcytosine dioxygenase 2

severity

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

OMIM
ClinVar
RGD

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

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

tumor necrosis factor

disease_progression

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

PMID:10697556 PMID:15888251

RGD:10450530 RGD:10450881

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

tumor protein p53

no_association
disease_progression
treatment

DNA:SNP:cds: p.R72P(rs1042522)(human)
ClinVar Annotator: match by term: Myelodysplastic syndromes
DNA:mutation: :
DNA:mutations: :

PMID:1359493 PMID:1565143 PMID:1631137 PMID:1683921 PMID:1978757 More...

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

U2 small nuclear RNA auxiliary factor 1

ClinVar Annotator: match by term: Myelodysplastic syndrome

PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:25741868 More...

NCBI chr21:29,399,601...29,414,156
Ensembl chr21:42,707,738...42,719,086

G

X-ray repair cross complementing 1

no_association

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

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

G

zinc finger protein, FOG family member 2

NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688

G

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

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

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

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

NCBI chr X:8,413,483...8,447,340
Ensembl chr X:15,772,064...15,804,913

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 chr20:59,264,759...59,325,092
Ensembl chr20:60,556,923...60,617,265

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:20601953 PMID:24218139

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

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

PMID:21712540 PMID:23619563

RGD:11038705 RGD:11038768

NCBI chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453

G

autophagy related 2B

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr14:76,910,943...76,992,969
Ensembl chr14:96,237,825...96,314,881

G

bradykinin receptor B1

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr14:76,885,923...76,894,456

G

bradykinin receptor B2

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253

G

chromosome 15 C14orf132 homolog

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr14:76,668,209...76,715,766
Ensembl chr14:95,992,446...96,040,079

G

calreticulin

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:24325356 PMID:24325359 PMID:25741868

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

G

cut like homeobox 2

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:20404132 PMID:25741868

NCBI chr12:108,600,286...108,975,588
Ensembl chr12:112,175,555...112,311,221

G

ERCC excision repair 1, endonuclease non-catalytic subunit

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

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

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

PMID:20601953 PMID:21921040

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:multiple:

NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940

G

fms related receptor tyrosine kinase 3 ligand

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

NCBI chr19:46,486,169...46,499,008

G

GATA binding protein 1

OMIM:254450

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

G

GSK3B interacting protein

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr14:76,993,055...77,017,142
Ensembl chr14:96,329,936...96,339,378

G

homeostatic iron regulator

susceptibility
no_association

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

NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591

G

insulin like 6

ClinVar Annotator: match by term: Myelofibrosis, somatic

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

NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827

G

Janus kinase 2

treatment

ClinVar Annotator: match by term: Myelofibrosis, somatic

OMIM
ClinVar
RGD

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

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

lysine methyltransferase 2A

exacerbates

DNA:mutations:multiple (human)

NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100

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:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More...

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

G

MYB proto-oncogene, transcription factor

OMIM:254450

NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194

G

nuclear receptor corepressor 2

OMIM:254450

NCBI chr12:121,913,368...122,155,031
Ensembl chr12:126,201,779...126,372,745

G

SH2B adaptor protein 3

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

PMID:20404132 PMID:25741868 PMID:25741909

NCBI chr12:108,977,344...109,024,029

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:25741868 PMID:26936507 PMID:32581362

NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634

G

TCL1 family AKT coactivator A

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr14:76,339,614...76,343,546
Ensembl chr14:95,664,120...95,667,375

G

transforming growth factor beta 1

treatment

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

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

tumor protein p53

disease_progression

associated with Myelodysplastic Syndromes;

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

TCL1 upstream neural differentiation-associated RNA

ClinVar Annotator: match by term: Primary myelofibrosis

Myeloid Leukemia, Accelerated Phase

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479

Myeloid Leukemia, Chronic-Phase

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

disease_progression

DNA:hypermethylation:promoter

PMID:11559572 PMID:19344397

RGD:11038809 RGD:11038811

NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941

G

BCR activator of RhoGEF and GTPase

disease_progression

G

cytochrome P450 family 3 subfamily A member 5

treatment

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

NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs11615 (human)

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

G

growth factor independent 1 transcriptional repressor

disease_progression

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

PMID:19887785 PMID:23411466

RGD:11040457 RGD:11040461

NCBI chr 1:95,139,171...95,151,054
Ensembl chr 1:93,876,245...93,883,528

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326

myeloid neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 1 member C3

NCBI chr10:5,079,580...5,157,572
Ensembl chr10:5,081,214...5,139,812

G

autophagy related 2B

CTD Direct Evidence: marker/mechanism

NCBI chr14:76,910,943...76,992,969
Ensembl chr14:96,237,825...96,314,881

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

G

calreticulin

CTD Direct Evidence: marker/mechanism

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

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 chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, plasma membrane

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

colony stimulating factor 1 receptor

ClinVar Annotator: match by term: Myeloproliferative disorder

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

early growth response 1

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

coagulation factor III, tissue factor

treatment

NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050

G

fibroblast growth factor receptor 1

treatment

CTD Direct Evidence: marker/mechanism

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

RGD:11352309 RGD:11352667

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

FGFR1 oncogene partner 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:59,345,834...59,372,895
Ensembl chr12:61,960,483...61,986,826

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Myeloproliferative disorder

PMID:8845844 PMID:9438390 PMID:9843049 PMID:11429702 PMID:19088846 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

fms related receptor tyrosine kinase 3

NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940

G

growth factor independent 1 transcriptional repressor

NCBI chr 1:95,139,171...95,151,054
Ensembl chr 1:93,876,245...93,883,528

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326

G

glutathione peroxidase 1

DNA:polymorphism: :p.P198L (human)

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

GSK3B interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr14:76,993,055...77,017,142
Ensembl chr14:96,329,936...96,339,378

G

heat shock protein family A (Hsp70) member 5

NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458

G

insulin like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

insulin like 6

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827

G

interferon regulatory factor 4

NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654

G

interferon regulatory factor 8

NCBI chr16:66,568,370...66,591,949
Ensembl chr16:85,905,334...85,929,073

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 chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

KRAS proto-oncogene, GTPase

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

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

MDS1 and EVI1 complex locus

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

PMID:9044825 PMID:29047144

NCBI chr 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

G

methylenetetrahydrofolate reductase

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

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

nucleophosmin 1

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

NCBI chr 5:166,735,904...166,756,321
Ensembl chr 5:173,490,197...173,510,656

G

NAD(P)H quinone dehydrogenase 1

NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731

G

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

NCBI chr 6:2,819,422...2,844,765
Ensembl chr 6:2,928,021...2,947,304

G

NRAS proto-oncogene, GTPase

disease_progression

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

Ensembl chr 5:1,300,960...1,338,872

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

zinc finger MYM-type containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:1,281,220...1,411,390
Ensembl chr13:19,599,221...19,727,913

myeloproliferative disorder with eosinophilia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor beta

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

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

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

myeloproliferative neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612

G

cut like homeobox 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm

NCBI chr 7:93,954,599...94,432,697
Ensembl chr 7:107,191,124...107,609,940

G

DEAD-box helicase 41

susceptibility

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

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

NCBI chr 5:172,812,755...172,818,217
Ensembl chr 5:179,873,626...179,884,402

G

ETS variant transcription factor 6

DNA:translocation: :

NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537

G

inositol-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:35101336

NCBI chr 1:202,091,263...202,198,880
Ensembl chr 1:207,084,883...207,191,678

G

Janus kinase 2

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

Janus kinase 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm

PMID:16843266 PMID:20372971 PMID:20385788 PMID:22271575 PMID:25157968

NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Myeloproliferative neoplasm

PMID:11208730 PMID:11505412 PMID:15837988 PMID:17259998 PMID:19175693 More...

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Myeloproliferative neoplasm

PMID:14764528 PMID:18451306 PMID:18528423 PMID:19483125 PMID:19608689 More...

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

G

neurofibromin 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

notch receptor 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

G

platelet derived growth factor receptor beta

DNA:translocation: :

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

transcription factor 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:28492532 PMID:35101336

Ensembl chr19:1,582,297...1,622,025

G

tet methylcytosine dioxygenase 2

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

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

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 chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376

G

pseudouridine synthase 1

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

PMID:25741868 PMID:28492532

NCBI chr12:129,583,040...129,598,328
Ensembl chr12:134,011,932...134,027,160

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 chr12:53,463,086...53,493,352
Ensembl chr12:56,065,505...56,076,026

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 chr12:129,583,040...129,598,328
Ensembl chr12:134,011,932...134,027,160

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 chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376

G

tyrosyl-tRNA synthetase 2

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

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

NCBI chr12:53,463,086...53,493,352
Ensembl chr12:56,065,505...56,076,026

Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cbl proto-oncogene

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

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

NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

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:15121796 More...

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

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 chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

complement C5

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

PMID:24521109 PMID:25741868 PMID:28492532

NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856

G

C-X-C motif chemokine receptor 4

treatment

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

HLA class II histocompatibility antigen, DQ beta 1 chain

DNA:polymorphism, haplotype

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

phosphatidylinositol glycan anchor biosynthesis class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria

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

NCBI chr X:7,946,158...7,962,320
Ensembl chr X:15,228,881...15,244,949

G

phosphatidylinositol glycan anchor biosynthesis class T

CTD Direct Evidence: marker/mechanism

NCBI chr20:41,749,034...41,759,131
Ensembl chr20:42,838,789...42,870,907

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:25741868 PMID:28492532 PMID:31704190 PMID:32452540 PMID:34355501

NCBI chr X:7,946,158...7,962,320
Ensembl chr X:15,228,881...15,244,949

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chr20:41,749,034...41,759,131
Ensembl chr20:42,838,789...42,870,907

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 chr20:41,749,034...41,759,131
Ensembl chr20:42,838,789...42,870,907

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

telomerase reverse transcriptase

Ensembl chr 5:1,300,960...1,338,872

polycythemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

egl-9 family hypoxia inducible factor 1

DNA:missense mutation:exon:p.W334R (c.1000 T>C) (human)
DNA:missense mutation: :p.P317R (950C>G) (human)
DNA:missense mutations, nonsense mutation: :multiple
DNA:missense mutations: :p.N203K, p.K291L, p.K423E (human)

PMID:16407130 PMID:21828119 PMID:21933857 PMID:23859443 PMID:24121508

RGD:11073369 RGD:11251767 RGD:11251768 RGD:11251769 RGD:11251771

NCBI chr 1:206,915,541...206,976,656

G

endothelial PAS domain protein 1

susceptibility

DNA:missense mutation:cds: 2097G>A,p.G537R(human)
DNA:polymorphisms,haplotype: :rs13419896, rs12619696(human)

PMID:18650473 PMID:25792003

RGD:11041568 RGD:11041573

NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560

G

erythropoietin receptor

ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC

PMID:1653276 PMID:1954391 PMID:4052634 PMID:7795221 PMID:8093406 More...

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

G

GATA binding protein 1

mRNA,protein:increased expression:CD71 positive bone marrow cell

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

G

hemoglobin subunit alpha 1

ClinVar Annotator: match by term: HEMOGLOBIN G (PEST)

PMID:893135 PMID:2227935 PMID:4550395 PMID:6814490 PMID:25818820 More...

Ensembl chr16:164,618...165,476

G

insulin like 6

ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC

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

NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827

G

Janus kinase 2

ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC

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

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

somatotropin

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

serpin family E member 1

associated with Anoxia;mRNA:increased expression:heart right ventricle, heart left ventricle (rat)

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC

PMID:15705783 PMID:20843259 PMID:25741868 PMID:27651169 PMID:28484264 More...

NCBI chr12:108,977,344...109,024,029

G

solute carrier family 30 member 10

CTD Direct Evidence: marker/mechanism

NCBI chr 1:195,480,707...195,528,243
Ensembl chr 1:200,522,554...200,566,228

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Polycythemia

PMID:15642680 PMID:25637381 PMID:25741868 PMID:28492532

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

BCL2 like 1

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

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

G

CD36 molecule (CD36 blood group)

protein:increased expression:platelet, cell surface

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

elastase, neutrophil expressed

protein:increased expression:plasma:

PMID:12186827 PMID:18768782

RGD:10450556 RGD:10450557

NCBI chr19:276,499...280,598

G

erythropoietin receptor

mRNA:decreased expression:blood cell:

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557

G

glutathione S-transferase mu 1

susceptibility

Ensembl chr 1:127,979,238...128,010,411

G

hemoglobin subunit alpha 1

CTD Direct Evidence: marker/mechanism

Ensembl chr16:164,618...165,476

G

homeostatic iron regulator

susceptibility
no_association

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

NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591

G

insulin like 6

ClinVar Annotator: match by term: Polycythemia rubra vera

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

NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827

G

Janus kinase 1

ClinVar Annotator: match by term: Polycythemia rubra vera

PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 More...

NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991

G

Janus kinase 2

ClinVar Annotator: match by term: Polycythemia rubra vera

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

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

interferon alpha-2

CTD Direct Evidence: therapeutic

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

Primary Lymphedema with Myelodysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and BTB domain containing 1

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

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

NCBI chr 3:124,717,600...124,725,589
Ensembl chr 3:132,024,193...132,032,242

G

acyl-CoA dehydrogenase family member 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:129,631,105...129,732,894
Ensembl chr 3:137,107,834...137,209,550

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 chr 3:125,941,278...125,974,847
Ensembl chr 3:133,298,753...133,331,883

G

atypical chemokine receptor 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:129,670,181...129,675,026
Ensembl chr 3:137,150,087...137,151,139

G

acid phosphatase 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:129,392,396...129,465,962
Ensembl chr 3:136,713,816...136,764,655

G

adenylate cyclase 5

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

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

NCBI chr 3:120,380,094...120,545,725
Ensembl chr 3:127,283,921...127,446,508

G

aldehyde dehydrogenase 1 family member L1

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

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

NCBI chr 3:123,166,630...123,244,257
Ensembl chr 3:130,484,862...130,562,934

G

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 3:127,173,756...127,178,840

G

angiomotin like 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:131,402,375...131,421,030
Ensembl chr 3:138,874,309...138,892,913

G

anaphase promoting complex subunit 13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:131,524,227...131,532,624
Ensembl chr 3:138,995,860...139,004,179

G

arginine-fifty homeobox

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:118,670,123...118,692,774
Ensembl chr 3:125,582,839...125,598,563

G

asteroid homolog 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:128,098,219...128,111,196
Ensembl chr 3:135,421,044...135,432,284

G

ATPase secretory pathway Ca2+ transporting 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 3:127,937,272...128,101,060
Ensembl chr 3:135,260,796...135,423,700

G

beaded filament structural protein 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:130,470,362...130,543,610
Ensembl chr 3:137,946,969...138,016,584

G

chromosome 2 C3orf22 homolog

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

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

NCBI chr 3:123,599,191...123,609,230
Ensembl chr 3:130,914,841...130,924,133

G

calcium sensing receptor

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268

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 chr 3:121,018,879...121,066,563
Ensembl chr 3:127,918,294...127,965,906

G

CD86 molecule

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

CDV3 homolog

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:130,641,137...130,657,664

G

centrosomal protein 63

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:131,532,450...131,609,240
Ensembl chr 3:139,003,898...139,092,680

G

cilia and flagella associated protein 100

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

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

NCBI chr 3:123,444,962...123,486,188
Ensembl chr 3:130,761,923...130,801,851

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 chr 3:125,971,881...126,061,778

G

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

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

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

NCBI chr 3:123,747,049...124,003,254

G

carbohydrate sulfotransferase 13

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

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

NCBI chr 3:123,569,493...123,592,816
Ensembl chr 3:130,889,157...130,907,762

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 chr 3:126,227,605...126,242,609
Ensembl chr 3:133,584,384...133,598,887

G

collagen type VI alpha 5 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 3:127,438,826...127,578,612
Ensembl chr 3:134,790,015...134,889,148

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 chr 3:126,310,558...126,338,726
Ensembl chr 3:133,664,856...133,694,849

G

copine 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:128,615,410...129,096,612
Ensembl chr 3:135,936,137...136,436,888

G

cystatin A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,417,489...119,432,244
Ensembl chr 3:126,323,901...126,338,430

G

DnaJ heat shock protein family (Hsp40) member B8

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

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

NCBI chr 3:125,509,528...125,514,393
Ensembl chr 3:132,873,880...132,874,578

G

DnaJ heat shock protein family (Hsp40) member C13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:129,492,658...129,612,040
Ensembl chr 3:136,970,007...137,088,775

G

deltex E3 ubiquitin ligase 3L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,654,019...119,664,918
Ensembl chr 3:126,558,924...126,569,807

G

ELL associated factor 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:118,936,685...118,996,051
Ensembl chr 3:125,844,338...125,895,416

G

eukaryotic elongation factor, selenocysteine-tRNA specific

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

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

NCBI chr 3:125,199,895...125,456,133
Ensembl chr 3:132,564,877...132,819,647

G

EF-hand calcium binding domain 12

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 3:126,440,640...126,486,906
Ensembl chr 3:133,794,387...133,839,898

G

EF-hand and coiled-coil domain containing 1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 3:126,060,648...126,100,007

G

EPH receptor B1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:131,841,459...132,309,082
Ensembl chr 3:139,313,387...139,776,802

G

family with sequence similarity 162 member A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,474,737...119,500,668
Ensembl chr 3:126,380,525...126,406,366

G

F-box protein 40

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:118,695,215...118,730,183
Ensembl chr 3:125,604,930...125,639,658

G

follistatin like 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:117,508,772...117,564,254
Ensembl chr 3:124,422,968...124,475,431

G

GATA binding protein 2

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

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

NCBI chr 3:125,526,537...125,535,649
Ensembl chr 3:132,890,508...132,899,035

G

golgin B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:118,765,467...118,852,005
Ensembl chr 3:125,673,966...125,760,584

G

glycoprotein IX platelet

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 3:126,118,762...126,122,732
Ensembl chr 3:133,480,173...133,480,706

G

general transcription factor IIE subunit 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:117,850,234...117,890,719
Ensembl chr 3:124,760,926...124,801,230

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 chr 3:120,588,195...120,684,177

G

hematopoietic cell-specific Lyn substrate 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:118,733,505...118,763,177
Ensembl chr 3:125,642,973...125,669,095

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 chr 3:122,091,832...122,204,436
Ensembl chr 3:128,969,817...129,028,317

G

homogentisate 1,2-dioxygenase

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:117,735,772...117,790,096
Ensembl chr 3:124,646,431...124,700,733

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 chr 3:126,339,758...126,367,166
Ensembl chr 3:133,694,676...133,721,519

G

HSPB1 associated protein 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,832,903...119,883,383
Ensembl chr 3:126,737,419...126,786,484

G

intraflagellar transport 122

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 3:126,498,018...126,578,211
Ensembl chr 3:133,851,433...133,930,117

G

interleukin 20 receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:133,995,863...134,045,206
Ensembl chr 3:141,474,161...141,504,744

G

immunoglobulin like domain containing receptor 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,088,855...119,124,831
Ensembl chr 3:125,996,018...126,032,041

G

IQ motif containing B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242

G

ISY1 splicing factor homolog

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 3:126,187,354...126,219,355
Ensembl chr 3:133,545,726...133,575,974

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 chr 3:121,863,676...122,013,438
Ensembl chr 3:128,762,200...128,877,172

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 chr 3:121,138,136...121,828,723
Ensembl chr 3:128,225,413...128,720,441

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 chr 3:124,953,061...125,029,289
Ensembl chr 3:132,271,194...132,336,005

G

KLF transcription factor 15

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

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

NCBI chr 3:123,395,678...123,410,514
Ensembl chr 3:130,712,599...130,724,530

G

karyopherin subunit alpha 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,513,919...119,604,737
Ensembl chr 3:126,421,700...126,510,325

G

kyphoscoliosis peptidase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:131,646,356...131,697,727
Ensembl chr 3:139,120,711...139,168,785

G

collagen alpha-6(VI) chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 3:127,610,752...127,764,533
Ensembl chr 3:134,977,079...135,086,060

G

ropporin-1B

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

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

NCBI chr 3:123,032,485...123,046,831

G

uncharacterized protein C3orf36

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:130,973,660...130,974,164

G

histone H1.8

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 3:126,600,616...126,609,319
Ensembl chr 3:133,952,981...133,961,243

G

histone H1.10

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 3:126,375,743...126,377,467

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 chr 3:126,489,125...126,498,034
Ensembl chr 3:133,839,643...133,851,450

G

minichromosome maintenance complex component 2

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

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

NCBI chr 3:124,643,362...124,667,121
Ensembl chr 3:131,950,887...131,974,641

G

monoglyceride lipase

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

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

NCBI chr 3:124,733,770...124,865,302
Ensembl chr 3:132,040,430...132,171,731

G

mitochondrial matrix import factor 23

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,447,990...119,473,899
Ensembl chr 3:126,356,033...126,379,627

G

mitochondrial ribosomal protein L3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:128,544,224...128,609,045
Ensembl chr 3:135,866,397...135,907,043

G

MSL complex subunit 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:133,203,579...133,252,294
Ensembl chr 3:140,667,652...140,714,294

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 chr 3:122,032,535...122,060,974
Ensembl chr 3:128,907,662...128,934,426

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 chr 3:120,711,705...120,983,432
Ensembl chr 3:127,614,173...127,793,261

G

NCK adaptor protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:133,902,463...133,990,414
Ensembl chr 3:141,427,870...141,451,444

G

NADH:ubiquinone oxidoreductase subunit B4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:117,704,061...117,710,071
Ensembl chr 3:124,614,838...124,620,850

G

NIMA related kinase 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:128,111,202...128,434,781
Ensembl chr 3:135,433,828...135,757,221

G

nephrocystin 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:129,753,399...129,795,300

G

nudix hydrolase 16

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:128,466,119...128,473,186
Ensembl chr 3:135,788,354...135,790,038

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 chr 3:122,662,013...122,731,769
Ensembl chr 3:129,525,882...129,594,899

G

poly(ADP-ribose) polymerase family member 14

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,773,334...119,823,732
Ensembl chr 3:126,677,868...126,728,256

G

poly(ADP-ribose) polymerase family member 15

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,665,014...119,730,198
Ensembl chr 3:126,601,919...126,634,842

G

poly(ADP-ribose) polymerase family member 9

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,617,722...119,655,039
Ensembl chr 3:126,522,859...126,559,647

G

propionyl-CoA carboxylase subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270

G

protein disulfide isomerase family A member 5

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:120,155,981...120,250,961
Ensembl chr 3:127,059,751...127,154,451

G

phosphoinositide-3-kinase regulatory subunit 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 3:127,743,873...127,834,512
Ensembl chr 3:135,089,584...135,157,193

G

plexin A1

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

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

NCBI chr 3:124,026,069...124,080,241
Ensembl chr 3:131,340,584...131,393,561

G

plexin D1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 3:126,613,065...126,664,643

G

podocalyxin like 2

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

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

NCBI chr 3:124,673,860...124,717,469
Ensembl chr 3:131,981,894...132,023,747

G

DNA polymerase theta

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:118,535,968...118,648,275
Ensembl chr 3:125,446,829...125,559,283

G

protein phosphatase 2 regulatory subunit B''alpha

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:133,017,166...133,202,163
Ensembl chr 3:140,485,925...140,666,592

G

PRR23 family member E

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

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

NCBI chr 3:124,235,876...124,240,920
Ensembl chr 3:131,552,303...131,553,031

G

RAB43, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 3:126,145,723...126,179,989
Ensembl chr 3:133,504,093...133,538,331

G

RAB6B, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:130,869,494...130,941,280
Ensembl chr 3:138,344,815...138,416,358

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 chr 3:125,784,604...125,873,051

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 chr 3:117,794,224...117,850,184
Ensembl chr 3:124,707,984...124,748,983

G

rhodopsin

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 3:126,586,510...126,593,028
Ensembl chr 3:133,938,419...133,944,928

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 chr 3:121,074,182...121,097,320
Ensembl chr 3:127,973,536...127,996,694

G

ribophorin I

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

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

NCBI chr 3:125,666,844...125,697,922
Ensembl chr 3:133,032,560...133,058,666

G

RuvB like AAA ATPase 1

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

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

NCBI chr 3:125,120,524...125,200,859
Ensembl chr 3:132,486,229...132,528,918

G

receptor like tyrosine kinase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:131,174,507...131,296,815

G

SEC22 homolog A, vesicle trafficking protein

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:120,299,636...120,370,517
Ensembl chr 3:127,203,060...127,271,841

G

SEC61 translocon subunit alpha 1

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

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

NCBI chr 3:125,091,916...125,111,238
Ensembl chr 3:132,457,005...132,476,935

G

semaphorin 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,996,933...120,116,899
Ensembl chr 3:126,900,966...126,986,186

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 chr 3:122,214,558...122,344,797
Ensembl chr 3:129,080,749...129,210,872

G

solute carrier family 15 member 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:118,996,023...119,044,423
Ensembl chr 3:125,902,978...125,951,963

G

solute carrier family 35 member G2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:133,861,781...133,897,920
Ensembl chr 3:141,354,685...141,355,923

G

solute carrier family 41 member 3

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

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

NCBI chr 3:123,069,790...123,147,408
Ensembl chr 3:130,388,082...130,465,689

G

solute carrier family 49 member 4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,883,252...119,968,881
Ensembl chr 3:126,782,782...126,872,936

G

solute carrier organic anion transporter family member 2A1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:130,978,103...131,075,786
Ensembl chr 3:138,454,881...138,549,785

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 chr 3:122,578,527...122,652,007
Ensembl chr 3:129,443,369...129,515,917

G

SRP receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:130,850,953...130,865,940
Ensembl chr 3:138,325,988...138,342,056

G

STAG1 cohesin complex component

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:133,388,783...133,795,985
Ensembl chr 3:140,852,107...141,138,138

G

syntaxin binding protein 5L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:118,022,061...118,529,311
Ensembl chr 3:124,932,110...125,434,515

G

transferrin

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476

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 chr 3:126,705,270...126,955,798
Ensembl chr 3:134,056,876...134,288,588

G

transmembrane protein 108

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:130,105,824...130,468,122
Ensembl chr 3:137,775,339...137,944,660

G

DNA topoisomerase II binding protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:130,667,998...130,729,569
Ensembl chr 3:138,143,893...138,203,363

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 chr 3:124,618,386...124,636,075
Ensembl chr 3:131,926,486...131,943,709

G

thyrotropin releasing hormone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736

G

thioredoxin reductase 3

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

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

NCBI chr 3:123,644,679...123,697,563
Ensembl chr 3:130,967,026...131,013,667

G

ubiquitin like modifier activating enzyme 5

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 3:129,732,314...129,752,579
Ensembl chr 3:137,209,715...137,227,147

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 chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029

G

urocanate hydratase 1

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

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

NCBI chr 3:123,530,644...123,569,337
Ensembl chr 3:130,846,775...130,882,119

G

WD repeat domain 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr 3:119,503,001...119,506,814
Ensembl chr 3:126,410,902...126,411,894

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 chr 3:122,357,670...122,507,142
Ensembl chr 3:129,229,690...129,320,554

G

ZXD family zinc finger C

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

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

NCBI chr 3:123,486,239...123,524,826

primary polycythemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

egl-9 family hypoxia inducible factor 1

ClinVar Annotator: match by term: Familial erythrocytosis

NCBI chr 1:206,915,541...206,976,656

G

endothelial PAS domain protein 1

ClinVar Annotator: match by term: Familial erythrocytosis

PMID:25741868 PMID:28492532

NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560

G

erythropoietin receptor

ClinVar Annotator: match by term: Familial erythrocytosis

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1

PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 More...

Ensembl chr 5:1,300,960...1,338,872

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eukaryotic translation elongation factor 1 alpha 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

Ensembl chr20:61,412,122...61,421,735

G

fibronectin type III domain containing 11

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

Ensembl chr20:61,481,269...61,482,225

G

glucocorticoid modulatory element binding protein 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

Ensembl chr20:61,513,870...61,544,993

G

helicase with zinc finger 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

Ensembl chr20:61,483,623...61,498,083

G

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

Ensembl chr20:61,325,365...61,395,266

G

pancreatic progenitor cell differentiation and proliferation factor

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

Ensembl chr20:61,446,522...61,447,653

G

protein tyrosine kinase 6

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

Ensembl chr20:61,453,386...61,462,951

G

regulator of telomere elongation helicase 1

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3

PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19822871 More...

Ensembl chr20:61,581,331...61,618,718

G

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

Ensembl chr20:61,465,539...61,473,057

G

stathmin 3

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

poly(A)-specific ribonuclease

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4

PMID:9736620 PMID:16199547 PMID:16281054 PMID:22834816 PMID:25741868 More...

NCBI chr16:13,363,879...13,556,054
Ensembl chr16:14,787,881...14,977,786

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger CCHC-type containing 8

ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5

PMID:25741868 PMID:28492532 PMID:31488579

NCBI chr12:120,075,830...120,103,820
Ensembl chr12:124,297,279...124,325,110

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

replication protein A1

ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | ClinVar Annotator: match by term: RPA1-related short telomere syndrome

PMID:25741868 PMID:34767620

NCBI chr17:1,813,610...1,886,093
Ensembl chr17:1,705,380...1,775,596

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear assembly factor 1 ribonucleoprotein

ClinVar Annotator: match by term: NAF1-related condition | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7

PMID:25741868 PMID:27510903 PMID:28492532

NCBI chr 4:155,383,245...155,425,479
Ensembl chr 4:167,157,770...167,214,065

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protection of telomeres 1

ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8

NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NOP10 ribonucleoprotein

ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9

NCBI chr15:12,850,708...12,852,171
Ensembl chr15:31,684,833...31,686,305

pure red-cell aplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hepcidin antimicrobial peptide

mRNA:increased expression:liver

NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861

G

HLA class II histocompatibility antigen, DQ beta 1 chain

susceptibility

DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human)

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

Refractory Anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 5

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

fms related receptor tyrosine kinase 3 ligand

protein:increased expression:serum:

NCBI chr19:46,486,169...46,499,008

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 chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591

G

transcobalamin 2

protein:increased expression::

NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494

G

telomerase reverse transcriptase

Ensembl chr 5:1,300,960...1,338,872

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

Y-box binding protein 1

NCBI chr 1:41,982,365...42,002,430
Ensembl chr 1:43,360,052...43,380,313

Refractory Anemia with Excess of Blasts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 5

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

complement C3

disease_progression

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

complement factor B

disease_progression

NCBI chr 6:31,606,716...31,612,782

G

telomerase reverse transcriptase

Ensembl chr 5:1,300,960...1,338,872

G

tet methylcytosine dioxygenase 2

disease_progression

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

Shwachman-Diamond syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C21

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 More...

NCBI chr 5:75,411,784...75,440,485
Ensembl chr 5:80,695,390...80,719,741

G

signal recognition particle subunit SRP54

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977

NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151

G

SBDS ribosome maturation factor

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More...

NCBI chr 7:59,090,343...59,098,332

G

serpin family I member 2

OMIM:260400

NCBI chr 3:164,456,089...164,491,001
Ensembl chr 3:172,513,698...172,545,458

G

signal recognition particle 19

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

NCBI chr 5:108,221,482...108,251,955
Ensembl chr 5:114,024,636...114,031,845

G

SRP receptor subunit alpha

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

NCBI chr11:121,071,054...121,083,106
Ensembl chr11:124,987,307...124,993,347

Shwachman-Diamond Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elongation factor like GTPase 1

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2

PMID:25741868 PMID:28331068 PMID:28492532 PMID:29970384 PMID:31151987 More...

NCBI chr15:61,111,244...61,243,724

sideroblastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

CTD Direct Evidence: marker/mechanism

PMID:16892088 PMID:18398482 PMID:18637800

NCBI chr X:64,304,101...64,407,310
Ensembl chr X:74,418,754...74,521,726

G

aminolevulinate dehydratase

protein:decreased activity:kidney, liver, spleen

NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784

G

5'-aminolevulinate synthase 2

susceptibility

DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism

PMID:7949148 PMID:16716198 PMID:16892088

NCBI chr X:47,219,588...47,241,592
Ensembl chr X:55,451,794...55,473,680

G

calreticulin

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

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,864,840...17,867,883
Ensembl chr19:18,835,216...18,838,470

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr14:76,162,541...76,172,291

G

heat shock protein family A (Hsp70) member 9

CTD Direct Evidence: marker/mechanism

NCBI chr 5:133,934,859...133,955,048
Ensembl chr 5:140,064,207...140,084,551

G

pseudouridine synthase 1

ClinVar Annotator: match by term: Sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr12:129,583,040...129,598,328
Ensembl chr12:134,011,932...134,027,160

G

solute carrier family 25 member 38

CTD Direct Evidence: marker/mechanism

NCBI chr 3:39,287,934...39,301,810
Ensembl chr 3:39,567,737...39,581,957

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:16910769 PMID:21326867

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

transferrin receptor

mRNA,protein:increased expression:erythroblast:

NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998

sideroblastic anemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5'-aminolevulinate synthase 2

onset

ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
DNA:mutations:exons:p.K299Q,A172T(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)

OMIM
ClinVar
RGD

PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More...

RGD:11035241 RGD:11035243

NCBI chr X:47,219,588...47,241,592
Ensembl chr X:55,451,794...55,473,680

G

apurinic/apyrimidinic endodeoxyribonuclease 2

ClinVar Annotator: match by term: Anemia, sideroblastic, 1

NCBI chr X:47,210,552...47,218,320
Ensembl chr X:55,442,599...55,450,402

G

PAGE family member 2B

ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia

PMID:12663458 PMID:18823803 PMID:23315997 PMID:24166784 PMID:25741868 More...

G

solute carrier family 25 member 38

ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr 3:39,287,934...39,301,810
Ensembl chr 3:39,567,737...39,581,957

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

NCBI chr22:9,811,294...9,826,245
Ensembl chr22:27,512,564...27,527,914

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:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More...

NCBI chr 3:3,069,858...3,095,006
Ensembl chr 3:3,173,943...3,194,672

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 chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335

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:11133753 PMID:14764528 PMID:15269348 PMID:16199547 More...

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

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 chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827

G

Janus kinase 2

ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3

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

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

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: Thrombocytopenia, anemia, and myelofibrosis

PMID:25741868 PMID:25741905 PMID:27743390

NCBI chr 6:31,384,220...31,388,071
Ensembl chr 6:32,273,438...32,276,772

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 chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

G

carboxypeptidase B2

NCBI chr13:26,926,788...26,979,767

G

erythropoietin receptor

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

G

interleukin 1 beta

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

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 chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

protocadherin alpha-11

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr 5:136,150,262...136,376,530
Ensembl chr 5:142,321,070...142,488,986

G

protocadherin alpha-2

ClinVar Annotator: match by term: Thrombocytosis

G

protocadherin alpha-7

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr 5:142,301,336...142,316,338

G

MPL proto-oncogene, thrombopoietin receptor

DNA:mutation:cds:c.317C > T,p.P106L(human)
CTD Direct Evidence: marker/mechanism

PMID:15813844 PMID:16484586 PMID:19036112

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

G

protocadherin alpha 10

ClinVar Annotator: match by term: Thrombocytosis

G

protocadherin alpha 3

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr 5:142,280,707...142,283,181

G

protocadherin alpha 4

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr 5:142,286,433...142,289,088

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:108,977,344...109,024,029

G

thrombopoietin

susceptibility

DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism

PMID:9694695 PMID:15813844 PMID:33122006

NCBI chr 3:181,409,038...181,416,986
Ensembl chr 3:189,891,025...189,897,429

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:11133753 PMID:16199547 PMID:16470591 PMID:18090929 More...

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

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 myeloproliferative syndrome

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

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: 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:11843825 More...

NCBI chr X:64,304,101...64,407,310
Ensembl chr X:74,418,754...74,521,726

G

5'-aminolevulinate synthase 2

ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia

NCBI chr X:47,219,588...47,241,592
Ensembl chr X:55,451,794...55,473,680

G

PAGE family member 2B

ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia

ZIEGLER-HUANG SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 30 member 7

ClinVar Annotator: match by term: Ziegler-Huang syndrome

PMID:25741868 PMID:36821639

NCBI chr 1:103,552,661...103,636,019

Term paths to the root

Path 1
Term	Annotations
disease	17996
disease of anatomical entity	15260
hematopoietic system disease	3220
bone marrow disease	740
Acquired Amegakaryocytic Thrombocytopenia	0
Acquired Pure Megakaryocytic Aplasia	0
Bone Marrow Failure Disorders +	301
Bone Marrow Neoplasms +	479
Drachtman Weinblatt Sitarz Syndrome	0
MIRAGE Syndrome	0
Shwachman-Diamond Syndrome 2	1
myelodysplastic/myeloproliferative neoplasm +	29
polycythemia +	27
Path 2
Term	Annotations
disease	17996
disease of anatomical entity	15260
Hemic and Lymphatic Diseases	3704
hematopoietic system disease	3220
bone marrow disease	740
Acquired Amegakaryocytic Thrombocytopenia	0
Acquired Pure Megakaryocytic Aplasia	0
Bone Marrow Failure Disorders +	301
Bone Marrow Neoplasms +	479
Drachtman Weinblatt Sitarz Syndrome	0
MIRAGE Syndrome	0
Shwachman-Diamond Syndrome 2	1
myelodysplastic/myeloproliferative neoplasm +	29
polycythemia +	27

paths to the root