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 (762) Strains (14) Cell Lines (10)

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 chr19:20,549,298...20,621,991
Ensembl chr19:20,549,405...20,620,734

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Bone marrow hypocellularity

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225

G

DCC netrin 1 receptor

ClinVar Annotator: match by term: Bone marrow hypocellularity

NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740

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 chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415

G

DNA methyltransferase 3 alpha

RGD

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

ERCC excision repair 6 like 2

ClinVar Annotator: match by term: Bone marrow hypocellularity

PMID:25741868 PMID:29987015

NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275

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:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

glutathione S-transferase pi 1

susceptibility

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

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320

G

ribosomal protein S26

ClinVar Annotator: match by term: Bone marrow hypocellularity

NCBI chr 7:1,057,332...1,058,882

G

TERF1 interacting nuclear factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984

G

transthyretin

ClinVar Annotator: match by term: Bone marrow hypocellularity

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

NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008

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 chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415

G

Fms related receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:bone marrow cell:

RGD

NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942

G

homeo box B9

CTD Direct Evidence: marker/mechanism

NCBI chr10:81,237,312...81,240,818
Ensembl chr10:81,237,312...81,240,818

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181

G

nucleophosmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645

G

nucleoporin 98 and 96 precursor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

alpha-thalassemia myelodysplasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

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

OMIM
CTD
ClinVar

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

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

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 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591

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 chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

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)

RGD

NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178

G

CD40 ligand

protein:decreased expression:serum (human)

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

CD86 molecule

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

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:9885444 PMID:12221670

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism|therapeutic

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

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

DEAD-box helicase 41

ClinVar Annotator: match by term: Aplastic anemia

NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415

G

divergent protein kinase domain 1A

ClinVar Annotator: match by term: Aplastic anemia

NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743

G

dyskerin pseudouridine synthase 1

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

RGD

G

epoxide hydrolase 1

susceptibility
disease_progression

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

RGD

PMID:21228718 PMID:26999617

RGD:11252118, RGD:11252120

NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235

G

FA complementation group M

ClinVar Annotator: match by term: Aplastic anemia

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

NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028

G

Fas cell surface death receptor

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

RGD

PMID:7577642 PMID:11876982

RGD:11049159, RGD:11049449

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

Fms related receptor tyrosine kinase 3 ligand

protein:increased expression:serum,plasma:

RGD

NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463

G

GATA binding protein 2

mRNA:decreased expression:CD34+ cell

RGD

NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761

G

growth factor independent 1B transcriptional repressor

mRNA:decreased expression:bone marrow cell:

RGD

NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942

G

glutathione S-transferase mu 1

susceptibility

in male

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

susceptibility
no_association

RGD

PMID:14681495 PMID:16227674

RGD:10450790, RGD:10450878

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

interferon gamma

susceptibility
treatment

OMIM:609135
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplastic anemia
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron:

OMIM
MouseDO
CTD
ClinVar
RGD

PMID:18426658 PMID:20953611 PMID:15327519

RGD:10755710, RGD:10755690, RGD:10755688

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

KIT proto-oncogene receptor tyrosine kinase

severity

RGD

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

KIT proto-oncogene receptor tyrosine kinase; mutant 1

severity

RGD

G

nibrin

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

OMIM
ClinVar
CTD

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

NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150

G

perforin 1

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

OMIM
ClinVar
CTD

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

NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701

G

RAS p21 protein activator 3

OMIM:609135

NCBI chr16:75,855,360...75,969,349
Ensembl chr16:75,855,265...75,970,804

G

ribosomal protein L5

ClinVar Annotator: match by term: Aplastic anemia

NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290

G

RT1 class II, locus Ba

treatment

DNA:polymorphism, haplotype

RGD

PMID:12070003 PMID:7994040

RGD:11041765, RGD:11041775

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

severity
treatment

DNA:polymorphism, haplotype

RGD

PMID:24979673 PMID:7994040 PMID:12070003

RGD:11041757, RGD:11041775, RGD:11041765

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

Sbds, ribosome maturation factor

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

CTD
OMIM
ClinVar

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

NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649

G

telomerase RNA component

ClinVar Annotator: match by term: Aplastic anemia

PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 More...

NCBI chr 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

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

ClinVar
CTD
RGD

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

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

transforming growth factor, beta 1

susceptibility
severity

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

RGD

PMID:24362456 PMID:24028718

RGD:11073601, RGD:11073606

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

thrombopoietin

no_association

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

RGD

PMID:22686250 PMID:24085763

RGD:11073679, RGD:11073680

Ensembl chr11:80,182,820...80,188,167

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Aplastic anemia

NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984

G

tumor necrosis factor

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

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

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 chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538

G

Fibroblast growth factor receptor 1

RGD

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

major facilitator superfamily domain containing 11

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

NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064

G

RUNX family transcription factor 1

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

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556

G

serine and arginine rich splicing factor 2

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

NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338

G

tet methylcytosine dioxygenase 2

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

PMID:22905207 PMID:28492532

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

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 chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292

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 chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545

G

solute carrier family 25, member 38

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

OMIM
CTD
ClinVar

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

NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332

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 chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545

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 chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783

Blast Crisis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation-induced cytidine deaminase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

G

estrogen receptor 2

RGD

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

heme oxygenase 1

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

microRNA 150

miRNA:decreased expression:leukocytes

RGD

NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108

G

transcobalamin 2

protein:increased expression::

RGD

NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489

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 chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771

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 chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729

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 chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275

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 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752

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 5:109,761,345...109,826,652
Ensembl chr 5:109,776,286...109,819,967

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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

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 chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226

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 chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

tumor protein p53

disease_progression

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

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 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

BCR activator of RhoGEF and GTPase

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

PMID:25741868 PMID:28492532

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

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 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881

G

IKAROS family zinc finger 1

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

NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416

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 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

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 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

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 chr 4:178,185,418...178,218,484

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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

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 chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556

G

splicing factor 3b, subunit 1

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

PMID:23395771 PMID:25741868

NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300

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 1A

treatment
susceptibility

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

RGD

PMID:24581936 PMID:26250462

RGD:11081178, RGD:11081180

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

ATP binding cassette subfamily C member 2

treatment

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

RGD

NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238

G

ATP binding cassette subfamily G member 2

treatment
susceptibility

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

RGD

PMID:24581936 PMID:24123600 PMID:26250462

RGD:11081178, RGD:11081181, RGD:11081180

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

susceptibility
treatment

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

ClinVar
CTD
OMIM
RGD

PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 PMID:11861307 More...

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

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

ABL proto-oncogene 2, non-receptor tyrosine kinase

RGD

NCBI chr13:68,673,702...68,770,846
Ensembl chr13:68,673,722...68,839,742

G

angiotensin I converting enzyme

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

angiotensinogen

RGD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

AKT serine/threonine kinase 1

protein:increased phosphorylation:blood

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: therapeutic

PMID:19503090 PMID:19823023

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

Bcl2-like 1

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

BCR activator of RhoGEF and GTPase

susceptibility
treatment
disease_progression

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

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

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

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

G

baculoviral IAP repeat-containing 5

CTD Direct Evidence: therapeutic

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

basic helix-loop-helix ARNT like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231

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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838

G

caspase 6

treatment

human cells in mouse model

RGD

NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 molecule

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

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

cyclin-dependent kinase inhibitor 1B

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

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

treatment

RGD

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

treatment

RGD

G

cyclin-dependent kinase inhibitor 2A, variant 2

treatment

RGD

G

cysteine and histidine rich domain containing 1

OMIM:608232

NCBI chr 8:15,374,356...15,398,436
Ensembl chr 8:15,374,471...15,399,162

G

CRK like proto-oncogene, adaptor protein

protein:increased phosphorylation:blood

RGD

NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238

G

cryptochrome circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:18,529,823...18,594,091

G

cryptochrome circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965

G

cytochrome P450, family 1, subfamily a, polypeptide 1

treatment

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

RGD

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 3, subfamily a, polypeptide 9

susceptibility
treatment

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

RGD

PMID:21039054 PMID:19584153

RGD:11353798, RGD:11353810

NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422

G

DNA methyltransferase 1

disease_progression

RGD

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 alpha

disease_progression

RGD

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

DNA methyltransferase 3 beta

disease_progression

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

E2F transcription factor 1

mRNA:increased expression:blood

RGD

NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361

G

ERCC excision repair 2, TFIIH core complex helicase subunit

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

RGD

PMID:24955348 PMID:25311495

RGD:11252188, RGD:11060463

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

RGD

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

Fas cell surface death receptor

susceptibility

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

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

susceptibility

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

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

Fc gamma receptor 2A

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

fibroblast growth factor receptor 3

mRNA:increased expression:peripheral blood (human)

RGD

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

GRB2-associated binding protein 2

disease_progression

protein:increased expression:bone marrow

RGD

NCBI chr 1:151,429,844...151,625,708
Ensembl chr 1:151,429,695...151,625,031

G

glutathione peroxidase 1

no_association

DNA:polymorphism: :p.P198L (human)

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

hes family bHLH transcription factor 1

rat gene in a mouse model

RGD

NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192

G

hyaluronan-mediated motility receptor

CTD Direct Evidence: marker/mechanism

NCBI chr10:25,132,933...25,163,029
Ensembl chr10:25,132,977...25,163,060

G

heme oxygenase 1

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

interleukin 10

treatment

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 beta

severity

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

severity

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

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 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

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 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

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 chr 4:178,185,418...178,218,484

G

mitogen activated protein kinase 14

CTD Direct Evidence: therapeutic

NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589

G

MDM2 proto-oncogene

onset

DNA:SNP:promoter:rs2279744(human)

RGD

NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915

G

microRNA 150

miRNA:decreased expression:leukocytes

RGD

NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108

G

myeloid leukemia factor 1

RGD

NCBI chr 2:151,648,492...151,681,654
Ensembl chr 2:151,648,511...151,681,652

G

methylenetetrahydrofolate reductase

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

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

nicastrin

OMIM:608232

NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454

G

nucleophosmin 1

RGD

NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645

G

NAD(P)H quinone dehydrogenase 1

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

RGD

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:serum (human)

RGD

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

period circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431

G

period circadian regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459

G

period circadian regulator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607

G

PRAME like, X-linked 1

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

CTD
RGD

PMID:17157168 PMID:20838376

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

proteinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944

G

RT1 class II, locus Ba

onset

DNA:polymorphism, haplotype

RGD

PMID:17893434 PMID:17387388

RGD:11041777, RGD:11041781

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphism, haplotype

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

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 chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556

G

splicing factor 3b, subunit 1

ClinVar Annotator: match by term: Chronic myelogenous leukemia

PMID:23395771 PMID:25741868

NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300

G

SH2B adaptor protein 3

OMIM:608232

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

signal-induced proliferation-associated 1

OMIM:608232

NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591

G

SMAD family member 4

mRNA:decreased expression:blood

RGD

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

serine and arginine rich splicing factor 1

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

RGD

NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336

G

signal transducer and activator of transcription 5A

disease_progression
treatment

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

RGD

PMID:16522816 PMID:31952546 PMID:31952546

RGD:151667903, RGD:151667904, RGD:151667904

NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17157168 PMID:15068898

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

transforming growth factor, beta 1

protein:increased expression:serum

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

ubiquitin specific peptidase 15

mRNA, protein:decreased expression:PBMC (human)

RGD

NCBI chr 7:58,756,714...58,848,778
Ensembl chr 7:58,756,872...58,848,721

G

vascular endothelial growth factor A

susceptibility

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

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

G

X-ray repair cross complementing 1

susceptibility

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

RGD

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

chronic myelomonocytic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

DNA:mutations:exon:

RGD

NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538

G

cyclin-dependent kinase inhibitor 2B

DNA:altered methylation:5'UTR:

RGD

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

colony stimulating factor 3 receptor

disease_progression

DNA:mutations:multiples:

RGD

NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

DNA:mutations:multiple (human)

RGD

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

lysine demethylase 6A

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

G

NRAS proto-oncogene, GTPase

onset

RGD

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

tet methylcytosine dioxygenase 2

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

RGD

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

chronic neutrophilic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

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

RGD

PMID:24081659 PMID:23604229

RGD:10450482, RGD:10450483

NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inherited bone marrow failure syndrome

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

NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752

G

ERCC excision repair 6 like 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275

G

signal recognition particle 72

CTD Direct Evidence: marker/mechanism

NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729

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 chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841

G

AKT serine/threonine kinase 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817

G

Rho guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953

G

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918

G

Axl receptor tyrosine kinase

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265

G

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

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263

G

B9 domain containing 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356

G

branched chain keto acid dehydrogenase E1 subunit alpha

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862

G

biliverdin reductase B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375

G

similar to human chromosome 19 open reading frame 47

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861

G

coiled-coil domain containing 97

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986

G

CD79a molecule

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935

G

CEA cell adhesion molecule 15

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663

G

CEA cell adhesion molecule 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915

G

CEA cell adhesion molecule 6

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668

G

capicua transcriptional repressor

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532

G

cornifelin

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747

G

coenzyme Q8B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180

G

cytochrome P450, family 2, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887

G

cytochrome P450, family 2, subfamily a, polypeptide 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979

G

cytochrome P450, family 2, subfamily b, polypeptide 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143

G

cytochrome P450, family 2, subfamily f, polypeptide 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896

G

cytochrome P450, family 2, subfamily s, polypeptide 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303

G

death effector domain containing 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714

G

divergent protein kinase domain 1A

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:20054847 PMID:25741868 PMID:28492532

NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743

G

delta like canonical Notch ligand 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750

G

distal membrane arm assembly component 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812

G

DMRT-like family C2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531

G

dual specificity tyrosine phosphorylation regulated kinase 1B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169

G

egl-9 family hypoxia-inducible factor 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751

G

EP300 interacting inhibitor of differentiation 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,538,274...83,539,599

G

EP300 interacting inhibitor of differentiation 2B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734

G

Ets2 repressor factor

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388

G

glutamate-rich 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296

G

exosome component 5

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265

G

fibrillarin

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932

G

Fc gamma binding protein

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083

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:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

glutamate ionotropic receptor kainate type subunit 5

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125

G

glycogen synthase kinase 3 alpha

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802

G

homeodomain interacting protein kinase 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077

G

heterogeneous nuclear ribonucleoprotein U-like 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592

G

inositol-trisphosphate 3-kinase C

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779

G

galectin 5

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153

G

lipase E, hormone sensitive type

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310

G

latent transforming growth factor beta binding protein 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178

G

Ly6/Plaur domain containing 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011

G

mitogen activated protein kinase kinase kinase 10

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084

G

multiple EGF-like-domains 8

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613

G

MIA SH3 domain containing

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370

G

NUMB-like, endocytic adaptor protein

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776

G

platelet-activating factor acetylhydrolase 1b, catalytic subunit 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893

G

phospholipase D family, member 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072

G

pleckstrin homology and RhoGEF domain containing G2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063

G

POU class 2 homeobox 2

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261

G

proline rich 19

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168

G

periaxin

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407

G

proteasome 26S subunit, ATPase 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494

G

RAB4B, member RAS oncogene family

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763

G

Rab acceptor 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163

G

ribosomal protein L19

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

NCBI chr10:83,022,503...83,026,030
Ensembl chr10:83,019,257...83,052,112

G

ribosomal protein L26

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966

G

ribosomal protein L5

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:20054847 PMID:25741868 PMID:28492532

NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290

G

ribosomal protein S10

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044

G

ribosomal protein S10-like 6

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

NCBI chr15:18,308,287...18,309,139

G

ribosomal protein S16

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206

G

ribosomal protein S19

ClinVar Annotator: match by term: Congenital hypoplastic anemia

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

NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508

G

ribosomal protein S24

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279

G

selenoprotein V

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756

G

SERTA domain containing 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091

G

SERTA domain containing 3

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001

G

Sh3kbp1 binding protein 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375

G

small nuclear ribonucleoprotein polypeptide A

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538

G

spectrin, beta, non-erythrocytic 4

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228

G

SPT5 homolog, DSIF elongation factor subunit

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892

G

transforming growth factor, beta 1

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

translocase of inner mitochondrial membrane 50

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793

G

transmembrane protein 145

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611

G

transmembrane protein 91

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164

G

tetratricopeptide repeat domain 9B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903

G

zinc finger protein 11

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365

G

zinc finger protein 526

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180

G

zinc finger protein 574

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427

G

zinc finger protein 780B

ClinVar Annotator: match by term: Congenital hypoplastic anemia

NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107

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 chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841

G

AKT serine/threonine kinase 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817

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 chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938

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 chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812

G

arachidonate lipoxygenase 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328

G

Rho guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953

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 chr10:53,650,521...53,663,269
Ensembl chr10:53,650,553...53,663,913

G

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918

G

aurora kinase B

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837

G

Axl receptor tyrosine kinase

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265

G

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

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263

G

B9 domain containing 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356

G

branched chain keto acid dehydrogenase E1 subunit alpha

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862

G

biliverdin reductase B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375

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 chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632

G

similar to human chromosome 19 open reading frame 47

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320

G

coiled-coil domain containing 97

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986

G

CD79a molecule

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935

G

CEA cell adhesion molecule 15

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663

G

CEA cell adhesion molecule 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915

G

CEA cell adhesion molecule 6

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668

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 chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047

G

capicua transcriptional repressor

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532

G

cornifelin

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747

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 chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849

G

coenzyme Q8B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180

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 chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298

G

cytochrome b5 domain containing 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911

G

cytochrome P450, family 2, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887

G

cytochrome P450, family 2, subfamily a, polypeptide 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979

G

cytochrome P450, family 2, subfamily b, polypeptide 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143

G

cytochrome P450, family 2, subfamily f, polypeptide 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896

G

cytochrome P450, family 2, subfamily s, polypeptide 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303

G

death effector domain containing 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714

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 chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743

G

delta like canonical Notch ligand 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750

G

distal membrane arm assembly component 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812

G

DMRT-like family C2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531

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 chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298

G

dual specificity tyrosine phosphorylation regulated kinase 1B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169

G

ephrin B3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471

G

egl-9 family hypoxia-inducible factor 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751

G

EP300 interacting inhibitor of differentiation 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,538,274...83,539,599

G

EP300 interacting inhibitor of differentiation 2B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734

G

Ets2 repressor factor

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388

G

glutamate-rich 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296

G

exosome component 5

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265

G

fibrillarin

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932

G

Fc gamma binding protein

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083

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 chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661

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:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

growth hormone 1

treatment

RGD

NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078

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:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683

G

glutamate ionotropic receptor kainate type subunit 5

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125

G

glycogen synthase kinase 3 alpha

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802

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 chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067

G

HEAT repeat containing 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509

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 chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097

G

homeodomain interacting protein kinase 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077

G

heterogeneous nuclear ribonucleoprotein U-like 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592

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 chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168

G

inositol-trisphosphate 3-kinase C

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779

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 chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174

G

lysine demethylase 6B

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794

G

KLF transcription factor 1

mRNA:decreased expression:bone marrow, blood

RGD

NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758

G

galectin 5

ClinVar Annotator: match by term: Aase syndrome

NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153

G

lipase E, hormone sensitive type

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310

G

latent transforming growth factor beta binding protein 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178

G

Ly6/Plaur domain containing 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011

G

mitogen activated protein kinase kinase kinase 10

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084

G

multiple EGF-like-domains 8

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613

G

MIA SH3 domain containing

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370

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 chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494

G

NUMB-like, endocytic adaptor protein

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776

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 chr10:53,628,592...53,634,525
Ensembl chr10:53,628,759...53,634,359

G

platelet-activating factor acetylhydrolase 1b, catalytic subunit 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893

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 chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431

G

phosphoribosylformylglycinamidine synthase

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420

G

phospholipase D family, member 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072

G

pleckstrin homology and RhoGEF domain containing G2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063

G

RNA polymerase III subunit A

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:22855961 PMID:25741868 PMID:27029625

NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172

G

POU class 2 homeobox 2

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261

G

proline rich 19

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168

G

periaxin

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407

G

proteasome 26S subunit, ATPase 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494

G

RAB4B, member RAS oncogene family

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763

G

Rab acceptor 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163

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 chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840

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 chr10:54,061,054...54,063,015
Ensembl chr10:54,059,947...54,063,010

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 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599

G

ribosomal protein L19

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

PMID:25741868 PMID:28492532

NCBI chr10:83,022,503...83,026,030
Ensembl chr10:83,019,257...83,052,112

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 chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966

G

ribosomal protein L35A

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942
Ensembl chr 5:67,726,032...67,729,942

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 chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290

G

ribosomal protein S10

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 chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044

G

ribosomal protein S10-like 6

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:23718193 More...

NCBI chr15:18,308,287...18,309,139

G

ribosomal protein S16

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206

G

ribosomal protein S17

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:17647292 PMID:19953637 PMID:25741868

NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535
Ensembl chr 8:135,295,919...135,298,535

G

ribosomal protein S19

CTD Direct Evidence: marker/mechanism
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 chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508

G

ribosomal protein S20

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:25741868 PMID:32790018

NCBI chr 5:16,819,095...16,820,476
Ensembl chr 5:16,819,304...16,820,475
Ensembl chr 9:16,819,304...16,820,475
Ensembl chr 3:16,819,304...16,820,475

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 chr16:89,538...94,267
Ensembl chr16:89,604...94,279

G

ribosomal protein S26

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 7:1,057,332...1,058,882

G

ribosomal protein S7

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:25741868 PMID:26136524 PMID:28492532

NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145

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 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247

G

small Cajal body-specific RNA 21

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr10:54,070,959...54,071,098
Ensembl chr10:54,070,959...54,071,098

G

selenoprotein V

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756

G

SERTA domain containing 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091

G

SERTA domain containing 3

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001

G

Sh3kbp1 binding protein 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375

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 chr10:53,672,851...53,677,501
Ensembl chr10:53,673,340...53,698,160

G

small nucleolar RNA, H/ACA box 66

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:1,844,373...1,844,504
Ensembl chr14:1,844,373...1,844,504

G

small nucleolar RNA, C/D box 118

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946

G

small nucleolar RNA, C/D box 21

ClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532

NCBI chr14:1,847,134...1,847,227
Ensembl chr14:1,847,134...1,847,227

G

small nuclear ribonucleoprotein polypeptide A

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538

G

spectrin, beta, non-erythrocytic 4

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228

G

SPT5 homolog, DSIF elongation factor subunit

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892

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:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982

G

SUV39H1 histone lysine methyltransferase, pseudogene 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr X:141,792,589...141,795,257

G

transforming growth factor, beta 1

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

translocase of inner mitochondrial membrane 50

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793

G

transmembrane protein 107

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676

G

transmembrane protein 145

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611

G

transmembrane protein 88

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447

G

transmembrane protein 91

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164

G

tumor protein p53

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

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 chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331

G

tetratricopeptide repeat domain 9B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616

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 chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809

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:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849

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 chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929

G

zinc finger protein 11

ClinVar Annotator: match by term: Aase syndrome

NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365

G

zinc finger protein 526

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180

G

zinc finger protein 574

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427

G

zinc finger protein 780B

ClinVar Annotator: match by term: Aase syndrome

NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107

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 chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743

G

HEAT repeat containing 3

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

PMID:25741868 PMID:35213692

NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509

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 chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290

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 chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508

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 chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341

G

ribosomal protein S26

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10

OMIM
CTD
ClinVar

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

NCBI chr 7:1,057,332...1,058,882

G

sulfite oxidase

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

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

NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038

Diamond-Blackfan anemia 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein L26

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 11

OMIM
CTD
ClinVar

PMID:22431104 PMID:25741868 PMID:28492532

NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966

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 chr15:7,493,531...7,503,758
Ensembl chr15:7,493,531...7,503,854

G

ribosomal protein L15

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition

OMIM
CTD
ClinVar

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

NCBI chr15:7,503,883...7,507,166
Ensembl chr15:7,503,883...7,507,165

Diamond-Blackfan anemia 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein S29

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 13

OMIM
CTD
ClinVar

PMID:24829207 PMID:25741868 PMID:28492532

NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

OMIM
CTD
ClinVar

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

NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620

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 chr 7:1,057,332...1,058,882

G

ribosomal protein S28

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

OMIM
CTD
ClinVar

PMID:24942156 PMID:25741868

NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170
Ensembl chr16:14,607,801...14,609,170

G

TSR2, ribosome maturation factor

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

PMID:11424144 PMID:24942156

NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620

Diamond-Blackfan anemia 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein L27

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 16

OMIM
CTD
ClinVar

PMID:25424902 PMID:25741868 PMID:28492532

NCBI chr10:86,375,511...86,379,210
Ensembl chr10:86,375,454...86,379,193

Diamond-Blackfan anemia 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein S27

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 17

OMIM
CTD
ClinVar

PMID:25424902 PMID:25741868

NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964

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 chr 1:96,188,811...96,191,452
Ensembl chr 1:96,188,112...96,191,452

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 3:22,753,255...22,756,217
Ensembl chr 3:22,753,253...22,756,243

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 chr 1:172,420,151...172,427,021
Ensembl chr 1:172,419,761...172,426,995

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 chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509

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 chr16:49,178...88,178
Ensembl chr16:49,521...88,172

G

ribosomal protein S24

ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279

Diamond-Blackfan anemia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein S17

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 4

OMIM
CTD
ClinVar

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

NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535
Ensembl chr 8:135,295,919...135,298,535

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 chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168

G

ribosomal protein L35A

ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition
CTD Direct Evidence: marker/mechanism
DNA:deletions, duplication:multiple (human)
DNA:deletions, snps:multiple (human)

OMIM
ClinVar
CTD
RGD

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

RGD:11535072, RGD:11535069

NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942
Ensembl chr 5:67,726,032...67,729,942

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 chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743

G

ribosomal protein L5

OMIM:612561
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
DNA:mutations:multiple (human)
DNA:snps, deletions, insertions:exons, introns:multiple (human)
DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human)
DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human)
DNA:snps, duplication, deletions:exons:multiple (human)

OMIM
MouseDO
CTD
ClinVar
RGD

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

RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128, RGD:11535122

NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290

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
OMIM:612562
CTD Direct Evidence: marker/mechanism
DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)
DNA:mutations:multiple (human)
DNA:deletions:exons:g.58_59delCT, g.460delA (human)
DNA:deletions, snp:exons, introns:multiple (human)
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)

OMIM
ClinVar
MouseDO
CTD
RGD

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

RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132, RGD:11535122

NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599

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 chr 6:45,306,885...45,313,847
Ensembl chr 6:45,306,841...45,313,842

G

collectin sub-family member 11

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

NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145

G

ribonuclease H1

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

NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236

G

ribosomal protein S7

ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145

G

trafficking protein particle complex subunit 12

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

NCBI chr 6:45,321,496...45,386,967
Ensembl chr 6:45,321,497...45,386,952

Diamond-Blackfan anemia 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribosomal protein S10

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 9

OMIM
CTD
ClinVar

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

NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044

G

ribosomal protein S10-like 6

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

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

NCBI chr15:18,308,287...18,309,139

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 chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

IKAROS family zinc finger 1

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

PMID:28492532 PMID:29681510 PMID:34162668

NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416

erythroleukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903

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 chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015

G

bradykinin receptor B1

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

bradykinin receptor B2

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497

G

similar to human chromosome 14 open reading frame 132

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,365,466...124,398,449

G

calreticulin

severity

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

OMIM
ClinVar
RGD

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

RGD:11352751, RGD:11352747

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 ligand

protein:increased expression:serum (human)

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cut-like homeobox 2

ClinVar Annotator: match by term: Thrombocythemia 1

PMID:20404132 PMID:25741868

NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806

G

elastase, neutrophil expressed

protein:increased expression:plasma:

RGD

NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

GSK3B interacting protein

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100

G

Janus kinase 2

severity

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

MouseDO
CTD
RGD

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

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

MPL proto-oncogene, thrombopoietin receptor

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

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More...

RGD:10449014, RGD:10449016

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

MYB proto-oncogene, transcription factor

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

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

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 chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

Tcl1 family Akt coactivator A

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

thrombopoietin

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

OMIM
ClinVar
RGD

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

Ensembl chr11:80,182,820...80,188,167

G

TCL1 upstream neural differentiation-associated RNA

ClinVar Annotator: match by term: Thrombocythemia 1

NCBI chr 6:124,245,949...124,293,440

G

vascular cell adhesion molecule 1

protein:increased expression:serum:

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

von Willebrand factor

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

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 chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

familial erythrocytosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythropoietin receptor

no_association

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign | ClinVar Annotator: match by term: Familial erythrocytosis, 1
DNA:deletion mutation:exon:
DNA:nonsense mutation:exon:5881G>T(human)
DNA:nonsense mutation:cds:6002G>A(human)
DNA:nonsense mutation:cds:1251G>T(human)

OMIM
CTD
ClinVar
RGD

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

RGD:11041638, RGD:11041631, RGD:11041608, RGD:11041605, RGD:11041601

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

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 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

G

Janus kinase 2

ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign

OMIM
CTD
ClinVar

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

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Congenital Erythrocytosis

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

NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

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 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856

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 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412

G

FANCD2 opposite strand

ClinVar Annotator: match by term: Chuvash polycythemia

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

NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569

G

Janus kinase 2

RGD

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

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
OMIM:263400
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228

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 chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

familial erythrocytosis 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hemoglobin subunit beta

ClinVar Annotator: match by term: Erythrocytosis, familial, 6 | ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE

PMID:124 PMID:14973 PMID:20942 PMID:27132 PMID:29054 More...

NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012

familial erythrocytosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hemoglobin alpha, adult chain 2

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...

NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392

G

hemoglobin alpha, adult chain 3

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

PMID:1634355 PMID:1634363 PMID:1686260 PMID:1787098 PMID:1988759 More...

NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481

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
CTD Direct Evidence: marker/mechanism
DNA:point mutation, deletion: :p.R89C (human)

OMIM
ClinVar
CTD
RGD

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

NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581

Familial Myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

RGD

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Familial myelofibrosis

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

vacuolar protein sorting 45 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295

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:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

ankyrin repeat domain containing 11

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962

G

aminopeptidase O

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 chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331

G

adaptor related protein complex 1 subunit sigma 2

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262

G

ankyrin repeat and SOCS box containing 11

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:30,014,485...30,037,808
Ensembl chr X:29,992,416...30,037,807

G

ankyrin repeat and SOCS box-containing 9

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:29,956,576...30,001,436
Ensembl chr X:29,956,576...30,001,105

G

BMX non-receptor tyrosine kinase

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:30,227,251...30,290,015
Ensembl chr X:30,227,251...30,289,993

G

BRCA2, DNA repair associated

susceptibility

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

PMID:11030417 PMID:11185744 PMID:12491487 PMID:12955716 PMID:12960223 More...

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

BRCA1 interacting helicase 1

CTD Direct Evidence: marker/mechanism
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 chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

G

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Fanconi anemia

PMID:17436244 PMID:28492532

NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856

G

similar to human chromosome 14 open reading frame 28

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558

G

carbonic anhydrase 5B

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:30,474,697...30,534,797
Ensembl chr X:30,474,784...30,533,837

G

cyclin-dependent kinase 10

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078

G

charged multivesicular body protein 1A

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436

G

collectrin, amino acid transport regulator

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:30,361,967...30,395,264
Ensembl chr X:30,361,967...30,395,349

G

copine 7

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677

G

dysbindin domain containing 1

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444

G

differentially expressed in FDCP 8 homolog

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,474,783...51,495,638
Ensembl chr19:51,474,878...51,495,638

G

dipeptidase 1

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257

G

FA complementation group A

disease_progression

DNA:missense mutations, splice-site mutations:exon, intron:multiple
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
CTD Direct Evidence: marker/mechanism
DNA:deletions, transitions:exon, intron:multiple

ClinVar
CTD
RGD

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

RGD:11344899, RGD:11344919, RGD:11344914

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

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:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192

G

FA complementation group C

onset

DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD Direct Evidence: marker/mechanism
DNA:deletion: :322delG (human)

ClinVar
CTD
RGD

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

RGD:11041907, RGD:11344914

NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376

G

FA complementation group D2

DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
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
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:9536098 PMID:11239453 PMID:14667412 PMID:14695169 PMID:16199547 More...

RGD:1601137, RGD:11344904

NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412

G

FANCD2 opposite strand

ClinVar Annotator: match by term: Fanconi anemia

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

NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569

G

FA complementation group E

ClinVar Annotator: match by term: Fanconi anemia

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

NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631

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 chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923

G

FA complementation group G

FANCG, OMIM:602956
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

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

NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029

G

FA complementation group I

DNA:mutations: :multiple
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:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 More...

NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640

G

FA complementation group L

CTD Direct Evidence: marker/mechanism
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:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More...

NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255

G

FA complementation group M

CTD Direct Evidence: marker/mechanism
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:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 More...

NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028

G

FKBP prolyl isomerase 3

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011

G

Fms related receptor tyrosine kinase 3 ligand

protein:increased expression:serum,plasma:

RGD

NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463

G

fibrous sheath CABYR binding protein

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr 6:82,527,849...82,530,641

G

growth arrest specific 8

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305

G

glutathione S-transferase mu 1

disease_progression

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

treatment

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

interferon gamma

protein:increased expression:plasma

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 10

protein:increased expression:plasma

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

kelch-like family member 28

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164

G

melanocortin 1 receptor

ClinVar Annotator: match by term: Fanconi anemia

PMID:9721219 PMID:28492532 PMID:29098742

NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192

G

motile sperm domain containing 2

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:29,420,485...29,472,099
Ensembl chr X:29,420,586...29,462,398

G

MX dynamin like GTPase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507

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 chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

G

phosphatidylinositol glycan anchor biosynthesis, class A

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804

G

pirin

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218

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 chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

G

perforin 1

RGD

NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701

G

pre-mRNA processing factor 39

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825

G

patched 1

ClinVar Annotator: match by term: Fanconi anemia

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

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

G

RAD51 paralog C

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

PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 More...

NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248

G

ribosomal protein L13

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014

G

SLX4 structure-specific endonuclease subunit

CTD Direct Evidence: marker/mechanism
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:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 More...

NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295

G

spermatogenesis associated 2-like

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510

G

spermatogenesis associated 33

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894

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 chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920

G

transcription factor 25

ClinVar Annotator: match by term: Fanconi anemia

PMID:9721219 PMID:28492532 PMID:29098742

NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723

G

tumor necrosis factor

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

CTD
RGD

PMID:22628295 PMID:8438880 PMID:24021704

RGD:10450524, RGD:11049161

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TOG array regulator of axonemal microtubules 1

ClinVar Annotator: match by term: Fanconi anemia

PMID:28492532 PMID:29895858 PMID:30075111

NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807

G

tubulin, beta 3 class III

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243

G

ubiquitin specific peptidase 1

NCBI chr 5:113,587,564...113,598,934
Ensembl chr 5:113,587,564...113,598,932

G

valosin-containing protein

ClinVar Annotator: match by term: Fanconi anemia

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

NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

G

vascular endothelial growth factor D

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Fanconi anemia

PMID:17436244 PMID:28492532

NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

G

VPS9 domain containing 1

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634

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 chr14:100,313,771...100,434,520
Ensembl chr14:100,313,601...100,434,527

G

zinc finger protein (C2H2 type) 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 chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049

G

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

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125

Fanconi anemia complementation group A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminopeptidase O

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 More...

NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331

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 chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

cyclin-dependent kinase 10

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078

G

charged multivesicular body protein 1A

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436

G

copine 7

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677

G

dystrophin

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

G

dipeptidase 1

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257

G

FA complementation group A

ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A
OMIM:227650

OMIM
ClinVar
MouseDO

PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:08896563 More...

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

G

FA complementation group B

ClinVar Annotator: match by term: Fanconi anemia, group A

PMID:25741868 PMID:28492532

NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192

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 chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376

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 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412

G

FANCD2 opposite strand

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:25741868 PMID:25927356 PMID:28492532

NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569

G

FA complementation group G

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:25741868 PMID:28492532

NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029

G

FA complementation group I

ClinVar Annotator: match by term: Fanconi anemia complementation group A

PMID:25741868 PMID:28492532

NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640

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 chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255

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 chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028

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 chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295

G

spermatogenesis associated 2-like

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510

G

spermatogenesis associated 33

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894

G

VPS9 domain containing 1

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634

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 chr14:100,313,771...100,434,520
Ensembl chr14:100,313,601...100,434,527

G

zinc finger protein (C2H2 type) 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 chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049

G

zinc finger protein 469

ClinVar Annotator: match by term: Fanconi anemia complementation group A

NCBI chr19:50,282,337...50,324,010

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B

OMIM
CTD
ClinVar

PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 More...

NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192

Fanconi anemia complementation group C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminopeptidase O

ClinVar Annotator: match by term: Fanconi anemia complementation group C

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

NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331

G

DNA cross-link repair 1B

ClinVar Annotator: match by term: Fanconi anemia complementation group C

NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423

G

FA complementation group C

ClinVar Annotator: match by term: Fanconi anemia complementation group C
OMIM:227645
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376

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

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group D1
OMIM:605724

CTD
OMIM
ClinVar
MouseDO

PMID:1234 PMID:184056 PMID:251866 PMID:278235 PMID:668580 More...

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

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
OMIM:227646
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 More...

NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412

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 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More...

NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029

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 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

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
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple

OMIM
ClinVar
CTD
RGD

PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 More...

NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640

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 chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

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

DNA:nonsense mutation:cds:p.R798* (human)
ClinVar Annotator: match by term: Fanconi anemia complementation group J
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD
RGD

PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 More...

NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255

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 chr14:100,313,771...100,434,520
Ensembl chr14:100,313,601...100,434,527

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 chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group N

CTD
OMIM
ClinVar

PMID:100849 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 More...

NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

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 chr10:72,417,216...72,460,394
Ensembl chr10:72,417,298...72,460,406

G

myotubularin related protein 4

ClinVar Annotator: match by term: Fanconi anemia complementation group O

NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342

G

RAD51 paralog C

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition

CTD
OMIM
ClinVar

PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 More...

NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248

G

ring finger protein 43

ClinVar Annotator: match by term: Fanconi anemia complementation group O

NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977

G

septin 4

ClinVar Annotator: match by term: Fanconi anemia complementation group O

NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768

G

testis expressed 14, intercellular bridge forming factor

ClinVar Annotator: match by term: Fanconi anemia complementation group O

NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17576681 PMID:21240275 PMID:21240277 PMID:21805310 More...

NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More...

NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369

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
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308

NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035

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 chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

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 chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945

G

ubiquitin-conjugating enzyme E2T

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group T

OMIM
CTD
ClinVar

PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532

NCBI chr13:46,403,352...46,413,854
Ensembl chr13:46,403,375...46,414,835

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:11118202 PMID:19690184 PMID:22232082 PMID:22464251 PMID:23054243 More...

NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482

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
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM

NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693

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 chr19:39,235,883...39,268,479
Ensembl chr19:39,236,787...39,268,479

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia

OMIM
CTD
ClinVar

PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More...

NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395

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

CTD Direct Evidence: marker/mechanism
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

CTD
ClinVar
OMIM

PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22926781 More...

NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103

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 chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145

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

RGD

NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886

G

Rho GTPase activating protein 26

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

OMIM
CTD
ClinVar

NCBI chr18:30,835,806...31,237,945
Ensembl chr18:30,838,671...31,235,194

G

ASXL transcriptional regulator 1

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

PMID:25741868 PMID:26457647 PMID:28492532 PMID:32581362

NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538

G

Cbl proto-oncogene

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

ClinVar
OMIM
CTD
RGD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18698078 PMID:19387008 More...

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

colony stimulating factor 2

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22315502 PMID:9389708

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

Fms related receptor tyrosine kinase 3

OMIM:607785

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761

G

Janus kinase 3

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23832011 PMID:23832011

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

KRAS proto-oncogene, GTPase

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

CTD
ClinVar
MouseDO

PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More...

NCBI chr 4:178,185,418...178,218,484

G

neurofibromin 1

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

OMIM
ClinVar
MouseDO
CTD

PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 More...

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

G

NRAS proto-oncogene, GTPase

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

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

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

protein tyrosine phosphatase, non-receptor type 11

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

OMIM
ClinVar
MouseDO
CTD
RGD

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

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

Rac family small GTPase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720

G

RAS related

CTD Direct Evidence: marker/mechanism

NCBI chr 1:95,500,582...95,504,362
Ensembl chr 1:95,500,566...95,504,357

G

RAS related 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:168,233,693...168,303,111
Ensembl chr 1:168,233,693...168,303,111

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

SET binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:23832011 PMID:26457647

NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125

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 chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

MIRAGE Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9

ClinVar Annotator: match by term: MIRAGE syndrome | ClinVar Annotator: match by term: MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 More...

NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322

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 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415

Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9

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

PMID:2569483 PMID:25741868 PMID:28487541 PMID:28492532 PMID:29535429 More...

NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322

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

treatment

RGD

PMID:26314844 PMID:16917002

RGD:11081075, RGD:11081144

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

angiotensin I converting enzyme

protein:increased activity:serum

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

albumin

disease_progression

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331

G

apolipoprotein E

treatment

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390

G

beta-2 microglobulin

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

PMID:26619011 PMID:32856850

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

Brca1 associated protein 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265

G

BCL2, apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Bcl2-like 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12429644 PMID:14656874

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

Bcl2-like 10

protein:increased expression:bone marrow :

RGD

NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367

G

BCL6 co-repressor-like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359

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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649

G

Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

RGD

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

chromobox 7

susceptibility

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

CTD
RGD

PMID:23955597 PMID:23955597

NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

cellular communication network factor 1

exacerbates

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

RGD

PMID:28035364 PMID:25061178

RGD:329845528, RGD:329845546

NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484

G

cyclin D1

susceptibility

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

CTD
OMIM
ClinVar
RGD

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

RGD:1581171, RGD:11353784

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin D2

RGD

NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495

G

cyclin D3

RGD

NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371

G

CD40 molecule

treatment

human cells in a mouse model

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

treatment
disease_progression

protein:increased expression:serum (human)

RGD

PMID:15565183 PMID:22403003 PMID:27243341

RGD:11352240, RGD:11352251, RGD:11352268

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

CD46 molecule

protein:increased expression:plasma cell (human)

RGD

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

CD86 molecule

severity

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

CTD
RGD

PMID:16611307 PMID:22705596

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

cyclin-dependent kinase 4

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 2A

disease_progression

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

CTD
RGD

PMID:16008847 PMID:12681979

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:124,411,123...124,416,278
Ensembl chr 5:124,411,124...124,416,278

G

complement factor H-related 1

treatment

RGD

NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

cereblon

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

NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658

G

cytochrome P450, family 1, subfamily a, polypeptide 1

susceptibility

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

RGD

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 2, subfamily C, polypeptide 6

treatment
no_association

DNA:polymorphisms: :

RGD

PMID:17666363 PMID:20684753

RGD:11352748, RGD:11352804

NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596

G

cytochrome P450, family 2, subfamily d, polypeptide 4

no_association

DNA:polymorphisms: :

RGD

NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759

G

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

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

desmoglein 2

disease_progression

RGD

NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156

G

eukaryotic translation initiation factor 1A, X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335

G

endoglin

severity

protein:increased expression:serum:

RGD

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

G

epoxide hydrolase 1

no_association
susceptibility

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

CTD
RGD

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

RGD:11252116, RGD:11252121, RGD:11252122

NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

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)

RGD

PMID:22183071 PMID:17131345

RGD:11252199, RGD:401827277

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

Ets2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388

G

Fas ligand

disease_progression

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107

G

Fc gamma receptor 2A

disease_progression
susceptibility

DNA:polymorphism: :rs1801274(human)

RGD

PMID:25850245 PMID:17315188

RGD:11040778, RGD:11040938

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

fibroblast growth factor receptor 3

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

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

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

fibrinogen gamma chain

treatment

RGD

NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322

G

Fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

Fms related receptor tyrosine kinase 3 ligand

disease_progression

protein:increased expression:serum:

RGD

NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463

G

FTO, alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

RGD

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

glutathione peroxidase 1

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

glutathione S-transferase mu 1

severity
no_association

RGD

PMID:17653713 PMID:15136237

RGD:10450826, RGD:10450846

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

disease_progression
no_association
treatment

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

RGD

PMID:23953887 PMID:18061666 PMID:17512053

RGD:10755413, RGD:10755419, RGD:11075094

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

susceptibility
no_association

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16949155 PMID:15136237 PMID:12624497

RGD:10450846, RGD:10450847

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

H19 imprinted maternally expressed transcript

severity

RNA:decrased expression:blood serum (human)

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403

G

H3 clustered histone 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:41,368,379...41,368,902
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164

G

homeostatic iron regulator

susceptibility

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

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

hexokinase 1

RGD

NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131

G

HRas proto-oncogene, GTPase

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

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

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

RGD

PMID:7834632 PMID:7686390

RGD:11354981, RGD:11520780

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Myelomatosis

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelomatosis

PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More...

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

insulin-like growth factor 2 receptor

protein:increased expression:serum,urine:

RGD

NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501

G

interleukin 10

disease_progression

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

RGD

PMID:11307152 PMID:11022130

RGD:11041888, RGD:11049458

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 alpha

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

RGD

PMID:25469832 PMID:17926179 PMID:1777241

RGD:11049156, RGD:11051973, RGD:11059513

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

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

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

no_association

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

RGD

PMID:17926179 PMID:10848780

RGD:11051973, RGD:11522764

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 4 receptor

susceptibility

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

RGD

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757

G

interferon regulatory factor 4

disease_progression
treatment

DNA:translocation
CTD Direct Evidence: marker/mechanism

CTD
RGD

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

RGD:11526161, RGD:11530019, RGD:11530055

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

interferon regulatory factor 8

DNA:hypermethylation

RGD

NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

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

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

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 chr 4:178,185,418...178,218,484

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640

G

DNA ligase 4

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

OMIM
CTD
ClinVar
RGD

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

NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040

G

leucine rich repeat containing 56

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

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

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303

G

MEFV innate immunity regulator, pyrin

susceptibility

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

RGD

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

MET proto-oncogene, receptor tyrosine kinase

RGD

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043

G

microRNA 155

disease_progression

miRNA:decreased expression:serum

RGD

PMID:25497370 PMID:28446295

RGD:21079441, RGD:24922226

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 17

disease_progression

miRNA:increased expression:plasma cell

RGD

NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712

G

microRNA 19a

CTD Direct Evidence: marker/mechanism

NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993

G

microRNA 27a

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917

G

microRNA 320a

ameliorates

human gene in mouse model

RGD

NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473

G

microRNA 92a-1

CTD Direct Evidence: marker/mechanism

NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455

G

methylenetetrahydrofolate reductase

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

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

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

RGD

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

RGD

NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

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 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

nuclear receptor co-repressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

G

NFKB inhibitor alpha

RGD

PMID:16540234 PMID:12377412

RGD:2298898, RGD:2298895

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791

G

non-POU domain containing, octamer-binding

exacerbates

mRNA:increased expression: (human)

RGD

NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952

G

notch receptor 2

protein:increased expression:bone marrow (human)

RGD

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

NADPH oxidase 1

protein:increased expression:serum

RGD

NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236

G

NAD(P)H quinone dehydrogenase 1

no_association

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

CTD
RGD

PMID:16949155 PMID:18156703 PMID:18061666

RGD:10769348, RGD:10755419

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913

G

poly (ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

platelet factor 4

ameliorates

RGD

NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365

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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

RGD

NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971

G

RNA polymerase I subunit G

sexual_dimorphism

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

RGD

NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766

G

paraoxonase 1

severity
treatment
susceptibility

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

RGD

PMID:25520116 PMID:22348216 PMID:15136237

RGD:11552578, RGD:11040544, RGD:10450846

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

PRAME like, X-linked 1

severity

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

CTD
RGD

PMID:16179254 PMID:24791872

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296

G

psoriasis susceptibility 1 candidate 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599

G

parathyroid hormone-like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847

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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

RAN binding protein 2

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

RGD

NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481

G

RB binding protein 8, endonuclease

exacerbates

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

RGD

NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

RGD

NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619

G

roundabout guidance receptor 1

ameliorates

RGD

NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203

G

RT1 class I, locus CE16

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563

G

RUNX family transcription factor 1

mRNA:splice variant

RGD

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15908783 PMID:15908783

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

secreted protein acidic and cysteine rich

disease_progression

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

CTD
RGD

PMID:18172295 PMID:23699600

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

G

telomerase reverse transcriptase

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193

G

transferrin receptor

treatment

RGD

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

G

transforming growth factor, beta 1

disease_progression

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

RGD

PMID:23699600 PMID:22560388

RGD:11073605, RGD:11073614

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

tumor necrosis factor

treatment
no_association

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

RGD

PMID:12200397 PMID:12815949

RGD:10449450, RGD:10449453

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 10b

treatment

RGD

NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987

G

TNF receptor superfamily member 17

RGD

NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

G

tumor protein p53

disease_progression
treatment

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

PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More...

RGD:11073716, RGD:11073728, RGD:11075073

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611

G

thymidylate synthetase

treatment
no_association

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

RGD

PMID:17512053 PMID:17655928

RGD:11075094, RGD:11075095

NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924

G

vascular endothelial growth factor A

susceptibility

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

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

xanthine dehydrogenase

protein:increased expression:serum

RGD

NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268

G

exportin 5

severity

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

RGD

NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171

G

X-ray repair cross complementing 3

disease_progression

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

RGD

NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

RGD

NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808

G

X-ray repair cross complementing 5

susceptibility

DNA:SNP:3'-UTR (human)

RGD

NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747

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

RGD

NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747

G

ASXL transcriptional regulator 1

treatment
disease_progression

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

OMIM
ClinVar
MouseDO
CTD
RGD

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

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

NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538

G

autophagy related 7

OMIM:614286

NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593

G

ATRX, chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

Brca1 associated protein 1

OMIM:614286

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

Bcl2-like 10

susceptibility
treatment

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

RGD

PMID:24047476 PMID:21760590

RGD:11058140, RGD:14392809

NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690

G

CD40 molecule

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

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

cyclin-dependent kinase inhibitor 1B

DNA:deletion: :

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

severity

DNA:hypermethylation: :

RGD

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2B

disease_progression
treatment

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

CTD
RGD

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

RGD:11251750, RGD:11252195, RGD:11252169

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

CASP8 and FADD-like apoptosis regulator

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16105982 PMID:14562111

NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034

G

CREB binding protein

OMIM:614286

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

colony stimulating factor 3 receptor

disease_progression

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

RGD

PMID:15644419 PMID:12670333

RGD:10450471, RGD:10450504

NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991

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 chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415

G

DEAD-box helicase 42

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

RGD

NCBI chr10:91,148,926...91,180,940
Ensembl chr10:91,148,254...91,180,939

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 alpha

disease_progression

DNA:mutations:cds:
ClinVar Annotator: match by term: Myelodysplastic syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.R882 (human)

ClinVar
CTD
RGD

PMID:21067377 PMID:21518476 PMID:22160010 PMID:22722925 PMID:22744846 More...

RGD:11041122, RGD:11041124

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

DNA methyltransferase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

early growth response 1

OMIM:614286

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

erythropoietin

CTD Direct Evidence: therapeutic

PMID:12670338 PMID:16076383

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

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 chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression

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

RGD

PMID:25154760 PMID:26482462

RGD:11252197, RGD:11075607

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

ETS variant transcription factor 6

DNA:translocation: :
DNA:deletion: :

RGD

PMID:12203785 PMID:18476590 PMID:9171997

RGD:1581019, RGD:10450605, RGD:10450601

NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

CTD
RGD

PMID:20601954 PMID:22869879 PMID:21125401

RGD:10450880, RGD:10450887

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

Fas cell surface death receptor

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

RGD

PMID:9557605 PMID:15686130

RGD:11049447, RGD:11049448

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

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

RGD

PMID:9557605 PMID:15686130

RGD:11049447, RGD:11049448

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

Fc gamma receptor 3A

RGD

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

Fms related receptor tyrosine kinase 3

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

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

GATA binding protein 1

severity
disease_progression

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

MouseDO
CTD
RGD

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

RGD:10450734, RGD:10450753, RGD:10450752

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

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

NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761

G

growth factor independent 1 transcriptional repressor

mRNA:decreased expression:bone marrow:

RGD

NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814

G

G protein subunit beta 1

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

OMIM
CTD
ClinVar

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

NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124

G

glutathione S-transferase mu 1

susceptibility
treatment

RGD

PMID:16620556 PMID:15595630

RGD:10450800, RGD:10450836

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

susceptibility

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

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

disease_progression
no_association

RGD

PMID:8569364 PMID:23859717 PMID:9164324

RGD:10450772, RGD:10450840, RGD:10450779

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111

G

homeostatic iron regulator

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

CTD
RGD

PMID:17001480 PMID:12624489

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Myelodysplastic syndromes

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

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 chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelodysplastic syndromes

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

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

interleukin 1 beta

mRNA:increased expression:bone marrow

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Myelodysplasia

PMID:25741868 PMID:28492532

NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697

G

integrin subunit beta 3

RGD

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

G

lysine methyltransferase 2E

RGD

NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:178,185,418...178,218,484

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945

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 chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

LYL1, basic helix-loop-helix family member

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007

G

macroH2A.1 histone

OMIM:614286

NCBI chr17:8,479,331...8,542,071
Ensembl chr17:8,479,372...8,542,072

G

MDM2 proto-oncogene

no_association

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

RGD

NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915

G

MEFV innate immunity regulator, pyrin

susceptibility

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

RGD

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

RGD

NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425

G

MYB proto-oncogene like 2

OMIM:614286

NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

nucleophosmin 1

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

MouseDO
ClinVar

PMID:15659725 PMID:20026798 PMID:32581362

NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645

G

NAD(P)H quinone dehydrogenase 1

no_association

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

RGD

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

phospholipase C beta 1

severity
treatment

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

CTD
RGD

PMID:19805378 PMID:16820933 PMID:21109771

RGD:11535164, RGD:11535956

NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869

G

prostate transmembrane protein, androgen induced 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:162,011,884...162,060,343
Ensembl chr 3:162,012,751...162,060,454

G

DNA polymerase gamma, catalytic subunit

OMIM:614286

NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

G

PRAME like, X-linked 1

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

RGD

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

Rap1 GTPase-activating protein

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

RGD

NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253

G

RUNX family transcription factor 1

disease_progression

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

ClinVar
CTD
RGD

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

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

sterile alpha motif domain containing 9

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome

PMID:25741868 PMID:27182967 PMID:28492532 PMID:30046003

NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322

G

sterile alpha motif domain containing 9 like

OMIM:614286

NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415

G

splicing factor 3b, subunit 1

OMIM:614286
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia

OMIM
MouseDO
CTD
ClinVar

PMID:21909114 PMID:21995386 PMID:23395771 PMID:25741868

NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300

G

splicing factor 3b, subunit 2

ClinVar Annotator: match by term: Myelodysplastic syndromes

NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759

G

solute carrier family 22 member 5

mRNA:decreased expression:PBMCs (human)

RGD

NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309

G

sphingomyelin phosphodiesterase 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749

G

sphingosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240

G

serine and arginine rich splicing factor 11

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

RGD

NCBI chr 2:247,074,623...247,101,460
Ensembl chr 2:247,074,631...247,101,425

G

serine and arginine rich splicing factor 2

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

NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677

G

telomerase reverse transcriptase

severity

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

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

RGD:11038659, RGD:11038661

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

severity

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

OMIM
ClinVar
CTD
RGD

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

RGD:10450876, RGD:11038679

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

G

toll-like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

tumor necrosis factor

disease_progression

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

RGD

PMID:15888251 PMID:10697556

RGD:10450530, RGD:10450881

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

tumor protein p53

disease_progression
treatment
no_association

DNA:mutation: :
ClinVar Annotator: match by term: Myelodysplastic syndromes
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
DNA:SNP:cds: p.R72P(rs1042522)(human)

ClinVar
CTD
RGD

PMID:1359493 PMID:1565143 PMID:1631137 PMID:1683921 PMID:1978757 More...

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

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

U2 small nuclear RNA auxiliary factor 1

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

PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:25741868 More...

NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832

G

X-ray repair cross complementing 1

no_association

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

RGD

PMID:26482462 PMID:26482462

RGD:11075607, RGD:11075607

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

G

zinc finger protein, multitype 2

RGD

NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205

G

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

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

CTD
RGD

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

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

NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125

myelodysplastic/myeloproliferative neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

death inducer-obliterator 1

NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20601953 PMID:24218139

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

myelofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

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

RGD

PMID:21712540 PMID:23619563

RGD:11038705, RGD:11038768

NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538

G

autophagy related 2B

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015

G

bradykinin receptor B1

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

bradykinin receptor B2

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497

G

similar to human chromosome 14 open reading frame 132

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,365,466...124,398,449

G

calreticulin

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

OMIM
CTD
ClinVar
RGD

PMID:24325356 PMID:24325359 PMID:25741868 PMID:24997152 PMID:25860380

RGD:11352753, RGD:11352747

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

cut-like homeobox 2

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:20404132 PMID:25741868

NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806

G

ERCC excision repair 1, endonuclease non-catalytic subunit

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

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

RGD

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity

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

CTD
RGD

PMID:20601953 PMID:21921040

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

Fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:multiple:

RGD

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

Fms related receptor tyrosine kinase 3 ligand

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

RGD

NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463

G

GATA binding protein 1

OMIM:254450

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

GSK3B interacting protein

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100

G

homeostatic iron regulator

no_association
susceptibility

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

RGD

PMID:19258483 PMID:19258483

RGD:10755491, RGD:10755491

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

insulin-like 6

ClinVar Annotator: match by term: Myelofibrosis, somatic

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

NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

G

Janus kinase 2

treatment

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

ClinVar
MouseDO
CTD
OMIM
RGD

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

RGD:1627655, RGD:10449377

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

lysine methyltransferase 2A

exacerbates

DOID:4971DNA:mutations:multiple (human)

RGD

NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More...

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

MYB proto-oncogene, transcription factor

OMIM:254450

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

nuclear receptor co-repressor 2

OMIM:254450

NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319

G

SH2B adaptor protein 3

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

OMIM
ClinVar
CTD

PMID:20404132 PMID:25741868 PMID:25741909

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Primary myelofibrosis

PMID:25741868 PMID:26936507 PMID:32581362

NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476

G

Tcl1 family Akt coactivator A

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025

G

transforming growth factor, beta 1

treatment

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

RGD

PMID:23462118 PMID:23462118 PMID:23462118

RGD:11073609, RGD:11073609, RGD:11073609

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

tumor protein p53

disease_progression

associated with Myelodysplastic Syndromes;

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

TCL1 upstream neural differentiation-associated RNA

ClinVar Annotator: match by term: Primary myelofibrosis

NCBI chr 6:124,245,949...124,293,440

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 chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690

G

microRNA 150

miRNA:decreased expression:leukocytes

RGD

NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108

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

RGD

PMID:19344397 PMID:11559572

RGD:11038809, RGD:11038811

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

BCR activator of RhoGEF and GTPase

disease_progression

RGD

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

G

cytochrome P450, family 3, subfamily a, polypeptide 9

treatment

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

RGD

NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs11615 (human)

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

growth factor independent 1 transcriptional repressor

disease_progression

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

RGD

PMID:19887785 PMID:23411466

RGD:11040457, RGD:11040461

NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

RGD

NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942

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

RGD

NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873

G

autophagy related 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

G

calreticulin

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

Cbl proto-oncogene

disease_progression

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

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

RGD:11038798, RGD:11038808, RGD:11038804

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

CD36 molecule

protein:increased expression:platelet, plasma membrane

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

colony stimulating factor 1 receptor

ClinVar Annotator: match by term: Myeloproliferative disorder

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

early growth response 1

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

ETS variant transcription factor 6

DNA:translocation: :

RGD

NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

RGD

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

coagulation factor III, tissue factor

treatment

RGD

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

Fibroblast growth factor receptor 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

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

RGD:11352309, RGD:11352667

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

FGFR1 oncogene partner 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:179,491,602...179,512,630
Ensembl chr 4:179,491,599...179,512,630

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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

Fms related receptor tyrosine kinase 3

RGD

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

growth factor independent 1 transcriptional repressor

RGD

NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

RGD

NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942

G

glutathione peroxidase 1

DNA:polymorphism: :p.P198L (human)

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

GSK3B interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100

G

heat shock protein family A (Hsp70) member 5

RGD

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

insulin-like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like 6

ClinVar Annotator: match by term: Myeloproliferative disorder

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

NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

G

interferon regulatory factor 4

RGD

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

interferon regulatory factor 8

RGD

NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

G

Janus kinase 2

severity
no_association

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

ClinVar
CTD
RGD

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

RGD:10449376, RGD:10449393, RGD:10449376

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

KRAS proto-oncogene, GTPase

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

RGD

NCBI chr 4:178,185,418...178,218,484

G

MDS1 and EVI1 complex locus

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

CTD
RGD

PMID:29047144 PMID:9044825

NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

methylenetetrahydrofolate reductase

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

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

nucleophosmin 1

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

RGD

NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645

G

NAD(P)H quinone dehydrogenase 1

RGD

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

RGD

NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320

G

NRAS proto-oncogene, GTPase

disease_progression

RGD

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

RUNX family transcription factor 1

RGD

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

zinc finger MYM-type containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:31,035,835...31,108,945
Ensembl chr15:31,035,838...31,109,357

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

myeloproliferative neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

RGD

NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881

G

cut-like homeobox 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm

NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866

G

DEAD-box helicase 41

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DDX41-related condition | ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to

CTD
ClinVar
OMIM

PMID:9536098 PMID:17576681 PMID:25741868 PMID:25920683 PMID:26712909 More...

NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415

G

ETS variant transcription factor 6

DNA:translocation: :

RGD

NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992

G

inositol-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:35101336

NCBI chr13:92,069,160...92,164,281
Ensembl chr13:92,069,216...92,162,004

G

Janus kinase 2

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

Janus kinase 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm

PMID:16843266 PMID:20372971 PMID:20385788 PMID:22271575 PMID:25157968

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

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 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

neurofibromin 1

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

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

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

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 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

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 chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

G

platelet derived growth factor receptor beta

DNA:translocation: :

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: DDX41-related condition | ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:25741868 PMID:28492532 PMID:35101336

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

transcription factor 3

ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable

PMID:28492532 PMID:35101336

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

G

tet methylcytosine dioxygenase 2

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

RGD

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

myopathy, lactic acidosis, and sideroblastic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1-like

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

PMID:25741868 PMID:28492532

NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482

G

pseudouridine synthase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia

CTD
ClinVar
MouseDO

PMID:25741868 PMID:28492532

NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196

G

tyrosyl-tRNA synthetase 2

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

PMID:25741868 PMID:28492532

NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125

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 chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196

myopathy, lactic acidosis, and sideroblastic anemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1-like

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

PMID:25741868 PMID:28492532

NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482

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 chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125

myopathy, lactic acidosis, and sideroblastic anemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded ATP synthase membrane subunit 6

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

PMID:25037980 PMID:27812026 PMID:29350304

NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

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

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C5

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

PMID:24521109 PMID:25741868 PMID:28492532

NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994

G

C-X-C motif chemokine receptor 4

treatment

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

phosphatidylinositol glycan anchor biosynthesis, class A

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

ClinVar
CTD
RGD

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

NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804

G

phosphatidylinositol glycan anchor biosynthesis, class T

CTD Direct Evidence: marker/mechanism

NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887

G

RT1 class II, locus Ba

DNA:polymorphism, haplotype

RGD

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphism, haplotype

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

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:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804

G

phosphatidylinositol glycan anchor biosynthesis, class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887

Paroxysmal Nocturnal Hemoglobinuria 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis, class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2

PMID:23733340 PMID:25741868 PMID:28492532

NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

telomerase reverse transcriptase

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

polycythemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

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)

RGD

PMID:24121508 PMID:23859443 PMID:16407130 PMID:21933857 PMID:21828119

RGD:11251767, RGD:11073369, RGD:11251771, RGD:11251769, RGD:11251768

NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777

G

endothelial PAS domain protein 1

susceptibility

DNA:polymorphisms,haplotype: :rs13419896, rs12619696(human)
DNA:missense mutation:cds: 2097G>A,p.G537R(human)

RGD

PMID:25792003 PMID:18650473

RGD:11041568, RGD:11041573

NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228

G

erythropoietin receptor

ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC
mRNA,protein:increased expression:CD71 positive bone marrow cell
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

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

RGD:734937, RGD:149735329, RGD:11041647

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

G

GATA binding protein 1

mRNA,protein:increased expression:CD71 positive bone marrow cell

RGD

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

growth hormone 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078

G

hemoglobin alpha, adult chain 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOGLOBIN G (PEST)

PMID:893135 PMID:1634355 PMID:2227935 PMID:4550395 PMID:6814490 More...

NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392

G

hemoglobin alpha, adult chain 3

ClinVar Annotator: match by term: HEMOGLOBIN INKSTER | ClinVar Annotator: match by term: HEMOGLOBIN J (BUDA)

PMID:2227935 PMID:2752146 PMID:4212045 PMID:4550395 PMID:7803274 More...

NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481

G

hemoglobin subunit beta

DNA:point mutation:CDS:p.P100L (human
ClinVar Annotator: match by term: Erythrocytosis | ClinVar Annotator: match by term: HEMOGLOBIN PUTTELANGE | ClinVar Annotator: match by term: HEMOGLOBIN SAN DIEGO | ClinVar Annotator: match by term: HEMOGLOBIN SHERWOOD FOREST | ClinVar Annotator: match by term: HEMOGLOBIN SOUTH MILWAUKEE | ClinVar Annotator: match by term: HEMOGLOBIN TAK
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:590504 PMID:604313 PMID:1117598 PMID:1201208 PMID:2363414 More...

NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012

G

insulin-like 6

ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC

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

NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

G

Janus kinase 2

ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

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

RGD:10449378, RGD:10449392

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

serpin family E member 1

associated with Anoxia;mRNA:increased expression:heart right ventricle, heart left ventricle (rat)

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC

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

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

solute carrier family 30, member 10

CTD Direct Evidence: marker/mechanism

NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Polycythemia

PMID:15642680 PMID:25637381 PMID:25741868 PMID:28492532 PMID:16210343

NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

polycythemia vera

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Polycythemia rubra vera

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

Bcl2-like 1

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

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

CD36 molecule

protein:increased expression:platelet, cell surface

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

elastase, neutrophil expressed

protein:increased expression:plasma:

RGD

PMID:18768782 PMID:12186827

RGD:10450556, RGD:10450557

NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100

G

erythropoietin receptor

mRNA:decreased expression:blood cell:

RGD

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

RGD

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

G

glutathione S-transferase mu 1

susceptibility

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

hemoglobin alpha, adult chain 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392

G

hemoglobin subunit beta

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

PMID:2816924 PMID:5773089 PMID:11300351 PMID:19429541 PMID:26467025 More...

NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012

G

homeostatic iron regulator

susceptibility
no_association

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

RGD

PMID:19258483 PMID:19258483

RGD:10755491, RGD:10755491

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

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 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

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 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926

G

Janus kinase 2

ClinVar Annotator: match by term: Polycythemia rubra vera
OMIM:263300
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

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

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

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 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620

G

acyl-CoA dehydrogenase family, member 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560

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 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547

G

atypical chemokine receptor 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617

G

acid phosphatase 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236

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 chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974

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 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465

G

angiomotin like 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,303,368...103,319,161
Ensembl chr 8:103,302,992...103,318,910

G

anaphase promoting complex subunit 13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,205,520...103,213,936
Ensembl chr 8:103,205,520...103,213,936

G

asteroid homolog 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430

G

ATPase secretory pathway Ca2+ transporting 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006

G

beaded filament structural protein 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399

G

similar to human chromosome 3 open reading frame 22

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 4:122,817,681...122,822,175
Ensembl chr 4:122,817,681...122,822,175

G

calcium-sensing receptor

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

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 chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956

G

CD86 molecule

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

carnitine deficiency-associated gene expressed in ventricle 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,934,006...103,947,173
Ensembl chr 8:103,933,996...103,947,192

G

centrosomal protein 63

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177

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 4:122,914,693...122,938,994
Ensembl chr 4:122,914,698...122,938,580

G

cilia and flagella associated protein 92

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546

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 4:121,803,501...122,024,209
Ensembl chr 4:121,792,717...122,024,216

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 4:122,824,022...122,837,940
Ensembl chr 4:122,824,022...122,838,019

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 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637

G

collagen type VI alpha 5 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 8:106,483,806...106,584,114
Ensembl chr 8:106,483,799...106,584,113

G

collagen type VI alpha 6 chain

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 8:106,318,010...106,473,419
Ensembl chr 8:106,306,422...106,473,472

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 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616

G

copine 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:105,177,376...105,653,075
Ensembl chr 8:105,177,376...105,653,068

G

cystatin A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488

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 4:120,681,918...120,685,108
Ensembl chr 4:120,681,926...120,687,552

G

DnaJ heat shock protein family (Hsp40) member C13

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317

G

deltex E3 ubiquitin ligase 3L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,814,926...64,824,539
Ensembl chr11:64,814,926...64,824,538

G

ELL associated factor 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610

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 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779

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 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560

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 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516

G

Eph receptor B1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:102,507,549...102,944,839
Ensembl chr 8:102,507,549...102,944,839

G

family with sequence similarity 162, member A

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239

G

F-box protein 40

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,794,452...63,812,697
Ensembl chr11:63,794,624...63,812,697

G

follistatin-like 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia

CTD
OMIM
ClinVar

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

NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761

G

golgin B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770

G

glycoprotein IX (platelet)

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110

G

general transcription factor IIE subunit 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,182,073...63,215,349
Ensembl chr11:63,182,349...63,213,942

G

H1.10 linker histone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:120,440,515...120,441,578
Ensembl chr 4:120,440,870...120,441,448

G

H1.8 linker histone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254

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 chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889

G

hematopoietic cell specific Lyn substrate 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014

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 chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051

G

homogentisate 1, 2-dioxygenase

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323

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 4:120,392,812...120,415,616
Ensembl chr 4:120,366,542...120,415,616

G

HSPB1 associated protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756

G

intraflagellar transport 122

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458

G

interleukin 20 receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:100,979,085...101,010,829
Ensembl chr 8:100,980,383...101,009,942

G

immunoglobulin-like domain containing receptor 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760

G

IQ motif containing B1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093

G

ISY1 splicing factor homolog

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188

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 chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472

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 chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610

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 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443

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 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374

G

karyopherin subunit alpha 1

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623

G

kyphoscoliosis peptidase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024

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 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982

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 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847

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 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179

G

mitochondrial matrix import factor 23

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000

G

mitochondrial ribosomal protein L3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544

G

MSL complex subunit 2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:101,676,605...101,702,818
Ensembl chr 8:101,676,765...101,763,833

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 chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727

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 chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

G

NCK adaptor protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300

G

NADH:ubiquinone oxidoreductase subunit B4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,063,723...63,070,426
Ensembl chr11:63,063,795...63,070,425

G

NIMA-related kinase 11

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:105,767,230...106,026,676
Ensembl chr 8:105,770,548...106,026,676

G

nephrocystin 3

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383

G

nudix hydrolase 16

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998

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 chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444

G

poly (ADP-ribose) polymerase family, member 14

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916

G

poly (ADP-ribose) polymerase family, member 9

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455

G

propionyl-CoA carboxylase subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234

G

protein disulfide isomerase family A, member 5

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084

G

phosphoinositide-3-kinase, regulatory subunit 4

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868 PMID:28492532

NCBI chr 8:106,267,908...106,316,585
Ensembl chr 8:106,267,954...106,316,584

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 4:121,737,934...121,782,901
Ensembl chr 4:121,737,945...122,024,196

G

plexin D1

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244

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 4:121,306,224...121,338,070
Ensembl chr 4:121,306,224...121,338,112

G

DNA polymerase theta

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878

G

protein phosphatase 2, regulatory subunit B'', alpha

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:101,703,512...101,841,530
Ensembl chr 8:101,704,778...101,841,502

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 4:120,249,650...120,269,174
Ensembl chr 4:120,249,879...120,269,174

G

RAB6B, member RAS oncogene family

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,695,328...103,764,023
Ensembl chr 8:103,695,631...103,805,732

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 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889

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 chr11:63,153,281...63,182,240
Ensembl chr11:63,152,792...63,182,671

G

rhodopsin

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773

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 chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148

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 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069

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 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384

G

receptor-like tyrosine kinase

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,419,338...103,492,083
Ensembl chr 8:103,419,275...103,491,698

G

SEC22 homolog A, vesicle trafficking protein

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319

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 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925

G

semaphorin 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311

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 chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834

G

solute carrier family 15 member 2

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225

G

solute carrier family 35, member G2

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:101,085,579...101,113,339
Ensembl chr 8:101,085,545...101,113,349

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 4:123,109,555...123,154,766
Ensembl chr 4:123,112,748...123,154,766

G

solute carrier family 49 member 4

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926

G

solute carrier organic anion transporter family, member 2a1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546

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 chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174

G

SRP receptor subunit beta

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,768,685...103,782,632

G

STAG1 cohesin complex component

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677

G

syntaxin binding protein 5L

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:63,334,667...63,654,270
Ensembl chr11:63,334,667...63,657,014

G

transferrin

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511

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 4:149,069,252...149,239,585
Ensembl chr 4:149,069,260...149,239,620

G

transmembrane protein 108

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094

G

DNA topoisomerase II binding protein 1

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674

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 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269

G

thyrotropin releasing hormone

ClinVar Annotator: match by term: Emberger syndrome

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

NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637

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 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491

G

ubiquitin-like modifier activating enzyme 5

ClinVar Annotator: match by term: Emberger syndrome

PMID:22147895 PMID:25741868

NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894

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 chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903

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 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591

G

WD repeat domain 5B

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

PMID:19449416 PMID:22147895 PMID:25741868

NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807

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 chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772

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 4:122,882,389...122,914,486
Ensembl chr 4:122,882,336...122,916,496

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 chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777

G

endothelial PAS domain protein 1

ClinVar Annotator: match by term: Familial erythrocytosis

PMID:25741868 PMID:28492532

NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228

G

erythropoietin receptor

ClinVar Annotator: match by term: Familial erythrocytosis

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

G

hemoglobin subunit beta

ClinVar Annotator: match by term: HEMOGLOBIN JOHNSTOWN | ClinVar Annotator: match by term: HEMOGLOBIN NEW MEXICO

PMID:19257 PMID:2272838 PMID:11074558 PMID:15658189 PMID:17952198 More...

NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 More...

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

telomerase RNA component

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2

OMIM
CTD
ClinVar

PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 More...

NCBI chr 2:112,815,654...112,816,041

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...

NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071

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...

NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617

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...

NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788

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...

NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159

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...

NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071

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...

NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036

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...

NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19822871 More...

NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

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...

NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915

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...

NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9736620 PMID:16199547 PMID:16281054 PMID:22834816 PMID:25741868 More...

NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560

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 chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325

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 chr10:60,148,869...60,199,970
Ensembl chr10:60,148,793...60,199,949

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 chr16:22,837,583...22,868,320
Ensembl chr16:22,837,588...22,868,293

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 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042

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 chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942

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

RGD

NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

Refractory Anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 5

RGD

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

Fms related receptor tyrosine kinase 3 ligand

protein:increased expression:serum:

RGD

NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463

G

homeostatic iron regulator

no_association

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

RGD

PMID:17654685 PMID:17654685

RGD:10755539, RGD:10755539

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

transcobalamin 2

protein:increased expression::

RGD

NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489

G

telomerase reverse transcriptase

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

Y box binding protein 1

RGD

NCBI chr 5:132,882,137...132,898,885
Ensembl chr 5:132,882,145...132,898,862

Refractory Anemia with Excess of Blasts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 5

RGD

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

complement C3

disease_progression

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement factor B

disease_progression

RGD

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

telomerase reverse transcriptase

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

disease_progression

RGD

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

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

NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752

G

Sbds, ribosome maturation factor

DNA:mutations:multiple
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
OMIM:260400
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

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

NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649

G

serpin family I member 2

OMIM:260400

NCBI chr 2:160,014,721...160,044,271
Ensembl chr 2:160,014,721...160,044,280

G

signal recognition particle 19

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

NCBI chr18:25,931,734...25,937,974
Ensembl chr18:25,931,589...25,938,017

G

signal recognition particle 54A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977

NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189

G

SRP receptor subunit alpha

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470

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 chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518

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

CTD
RGD

PMID:16892088 PMID:18637800 PMID:18398482

NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858

G

aminolevulinate dehydratase

protein:decreased activity:kidney, liver, spleen

RGD

NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474

G

5'-aminolevulinate synthase 2

susceptibility

DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16716198 PMID:16892088 PMID:7949148

NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519

G

calreticulin

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

RGD

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055

G

glutaredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545

G

heat shock protein family A (Hsp70) member 9

CTD Direct Evidence: marker/mechanism

NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia

PMID:9389715 PMID:32906214

NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867

G

pseudouridine synthase 1

ClinVar Annotator: match by term: Sideroblastic anemia

PMID:25741868 PMID:28492532

NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196

G

solute carrier family 25, member 38

CTD Direct Evidence: marker/mechanism

NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:16910769 PMID:21326867

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

transferrin receptor

mRNA,protein:increased expression:erythroblast:

RGD

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)

OMIM
ClinVar
CTD
RGD

PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More...

RGD:11035244, RGD:11035243, RGD:11035241

NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519

G

apurinic/apyrimidinic endodeoxyribonuclease 2

ClinVar Annotator: match by term: Anemia, sideroblastic, 1

NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439

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 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332

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 co-chaperone

ClinVar Annotator: match by term: Anemia, sideroblastic, 5

NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909

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 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611

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)

RGD

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

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 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

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 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

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 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:25741905 PMID:27743390

NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735

thrombocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calreticulin

human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

carboxypeptidase B2

RGD

NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556

G

erythropoietin receptor

RGD

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

G

interleukin 1 beta

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

Janus kinase 2

essential thrombocythemia, OMIM:187950
associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :p.S755R, p.R938Q (human)

CTD
RGD

PMID:19287382 PMID:19287384 PMID:15781101 PMID:22467227 PMID:24398328

RGD:1627655, RGD:15039391, RGD:10449375

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

MPL proto-oncogene, thrombopoietin receptor

DNA:mutation:cds:c.317C > T,p.P106L(human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15813844 PMID:16484586 PMID:19036112

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

protocadherin alpha 1

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 10

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 2

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 3

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 4

ClinVar Annotator: match by term: Thrombocytosis

NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 5

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 6

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 7

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 8

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 9

ClinVar Annotator: match by term: Thrombocytosis

Ensembl chr18:28,581,225...28,846,211

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

thrombopoietin

susceptibility

DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15813844 PMID:33122006 PMID:9694695

Ensembl chr11:80,182,820...80,188,167

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 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

transient myeloproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Transient myeloproliferative syndrome

CTD
OMIM
ClinVar
RGD

PMID:24056718 PMID:27993330 PMID:14636651

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome

PMID:10068652 PMID:12200707 PMID:15156185 PMID:23817177 PMID:28492532

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

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

DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human)

ClinVar
CTD
OMIM
RGD

PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 More...

RGD:1598600, RGD:11038735, RGD:11038734

NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858

G

5'-aminolevulinate synthase 2

ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia

NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519

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 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132

Term paths to the root

Path 1
Term	Annotations
disease	21128
disease of anatomical entity	18211
hematopoietic system disease	3344
bone marrow disease	776
Acquired Amegakaryocytic Thrombocytopenia	0
Acquired Pure Megakaryocytic Aplasia	0
Bone Marrow Failure Disorders +	311
Bone Marrow Neoplasms +	508
Drachtman Weinblatt Sitarz Syndrome	0
MIRAGE Syndrome	1
Shwachman-Diamond Syndrome 2	1
myelodysplastic/myeloproliferative neoplasm +	30
polycythemia +	28
Path 2
Term	Annotations
disease	21128
disease of anatomical entity	18211
Hemic and Lymphatic Diseases	3853
hematopoietic system disease	3344
bone marrow disease	776
Acquired Amegakaryocytic Thrombocytopenia	0
Acquired Pure Megakaryocytic Aplasia	0
Bone Marrow Failure Disorders +	311
Bone Marrow Neoplasms +	508
Drachtman Weinblatt Sitarz Syndrome	0
MIRAGE Syndrome	1
Shwachman-Diamond Syndrome 2	1
myelodysplastic/myeloproliferative neoplasm +	30
polycythemia +	28

paths to the root