congenital hypoplastic anemia - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:	congenital hypoplastic anemia	go back to main search page
Accession:	DOID:1342	browse the term
Definition:	An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. (DO)
Synonyms:	exact_synonym:	congenital aplastic anaemia; congenital aplastic anemia; congenital hypoplastic anaemia; congenital hypoplastic anemias
	related_synonym:	constitutional aplastic anaemia
	primary_id:	MESH:D029502
	xref:	ICD10CM:D61.0; ICD10CM:D61.01; ICD9CM:284.0
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (304)

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

IQ motif containing G

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

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: 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 L11

ClinVar Annotator: match by term: Congenital hypoplastic anemia

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: Congenital hypoplastic anemia

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

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: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

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
Ensembl chr 6:67,726,032...67,729,942
Ensembl chr 7:67,726,032...67,729,942
Ensembl chr12:67,726,032...67,729,942

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:20116044 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
Ensembl chr 6:5,694,313...5,699,044

G

ribosomal protein S10 like 6

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:20116044 PMID:25741868 PMID:28492532

NCBI chr15:18,308,287...18,309,139
Ensembl chr15:18,308,615...18,309,382

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
Ensembl chr19:83,643,130...83,646,206

G

ribosomal protein S19

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:9988267 PMID:10590074 PMID:10753603 PMID:12586610 PMID:12750732 More...

NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
Ensembl chr 7:80,480,951...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

ribosomal protein S7

ClinVar Annotator: match by term: Congenital hypoplastic anemia

PMID:25741868 PMID:28492532

NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145
Ensembl chr 5:45,223,980...45,271,145

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 epidermal 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

ArfGAP with SH3 domain, ankyrin repeat and PH domain 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,433,382...148,476,027
Ensembl chr 5:148,433,494...148,474,073

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

bromodomain testis associated

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:2,387,372...2,445,857
Ensembl chr14:2,387,796...2,445,842

G

BTB domain containing 8

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:2,265,187...2,338,426
Ensembl chr14:2,266,454...2,334,393

G

similar to human chromosome 1 open reading frame 146

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:2,230,404...2,250,420
Ensembl chr14:2,231,451...2,270,782

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

cell division cycle 7

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:2,804,660...2,824,796
Ensembl chr14:2,804,661...2,824,778

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

cannabinoid receptor 2

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548

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

E2F transcription factor 2

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,399,193...148,422,595
Ensembl chr 5:148,399,642...148,421,217

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

elongin A

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,231,600...148,246,760
Ensembl chr 5:148,231,596...148,246,765

G

epoxide hydrolase 4

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:2,343,376...2,372,680
Ensembl chr14:2,340,248...2,373,022

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

ecotropic viral integration site 5

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:1,875,601...2,021,678
Ensembl chr14:1,875,647...2,021,678

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

alpha-L-fucosidase 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972

G

UDP-galactose-4-epimerase

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388

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 factor independent 1 transcriptional repressor

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814

G

growth hormone 1

treatment

RGD

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

G

glomulin, FKBP associated protein

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420

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

grainyhead-like transcription factor 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160

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 2E

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

helicase for meiosis 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:2,857,251...2,943,766
Ensembl chr14:2,856,599...2,939,238

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

3-hydroxy-3-methylglutaryl-CoA lyase

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068

G

heterogeneous nuclear ribonucleoprotein R

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,542,999...148,574,888
Ensembl chr 5:148,543,044...148,574,867

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

5-hydroxytryptamine receptor 1D

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,656,252...148,676,532
Ensembl chr 5:148,674,495...148,675,619

G

inhibitor of DNA binding 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349

G

interferon, lambda receptor 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:147,919,547...147,942,328
Ensembl chr 5:147,919,908...147,942,332

G

interleukin 22 receptor subunit alpha 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:147,961,496...147,986,296
Ensembl chr 5:147,961,349...147,986,296

G

IQ motif containing G

ClinVar Annotator: match by term: Aase syndrome | 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 1A

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319

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

leucine zipper protein 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,706,094...148,781,616
Ensembl chr 5:148,706,138...148,781,609

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

lysophospholipase 2

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,198,466...148,203,062
Ensembl chr 5:148,198,439...148,203,092

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: Diamond-Blackfan anemia

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

G

myomesin 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:147,992,737...148,043,282
Ensembl chr 5:147,992,737...148,043,274

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

PITH domain containing 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,205,995...148,216,490
Ensembl chr 5:148,205,998...148,217,080

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

proline-rich nuclear receptor coactivator 2

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,103,966...148,106,950
Ensembl chr 5:148,095,699...148,107,242
Ensembl chr 5:148,095,699...148,107,242

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

RNA polymerase II associated protein 2

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:2,109,044...2,187,343
Ensembl chr14:2,109,053...2,187,350

G

ribosomal protein L11

ClinVar Annotator: match by term: Aase syndrome | 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 L17

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr18:68,581,141...68,584,253
Ensembl chr18:68,581,098...68,584,253
Ensembl chr 3:68,581,098...68,584,253

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: Aase syndrome | 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
Ensembl chr 6:67,726,032...67,729,942
Ensembl chr 7:67,726,032...67,729,942
Ensembl chr12:67,726,032...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
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
Ensembl chr15:18,308,615...18,309,382

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
Ensembl chr19:83,643,130...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
Ensembl chr 7:80,480,951...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
Ensembl chr 5:16,819,304...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
Ensembl chr X:107,822,178...107,822,525

G

ribosomal protein S7

ClinVar Annotator: match by term: Aase syndrome | 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
Ensembl chr 5:45,223,980...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 chr14:1,846,456...1,846,587

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

serine and arginine rich splicing factor 10

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,088,759...148,102,964
Ensembl chr 5:148,088,823...148,101,768

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

transcription elongation factor A3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,476,941...148,509,452
Ensembl chr 5:148,476,941...148,509,448

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

transforming growth factor beta receptor 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia

NCBI chr14:2,489,397...2,665,383
Ensembl chr14:2,489,397...2,663,341

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 46

ClinVar Annotator: match by term: Diamond-Blackfan anemia

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

NCBI chr 5:148,519,398...148,529,903
Ensembl chr 5:148,520,855...148,529,459

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
Ensembl chr 7:80,480,951...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

ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 | ClinVar Annotator: match by term: RPS26-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 7:1,057,332...1,058,882
Ensembl chr X:107,822,178...107,822,525

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

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

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

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 chr15:7,503,883...7,507,166
Ensembl chr15:7,503,883...7,507,165
Ensembl chr12:7,503,883...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

ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 | ClinVar Annotator: match by term: RPS29-related condition

PMID:24829207 PMID:25741868 PMID:28492532

NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
Ensembl chr13:87,635,230...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

FYVE, RhoGEF and PH domain containing 1

ClinVar Annotator: match by term: TSR2-related condition

PMID:24033266 PMID:28492532

NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566

G

TSR2, ribosome maturation factor

ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | ClinVar Annotator: match by term: TSR2-related condition

PMID:11424144 PMID:24033266 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
Ensembl chr X:107,822,178...107,822,525

G

ribosomal protein S28

ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | ClinVar Annotator: match by term: RPS28-related condition

PMID:24942156 PMID:25741868 PMID:28492532

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
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

ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 | ClinVar Annotator: match by term: RPL27-related condition

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

ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 | ClinVar Annotator: match by term: RPS27-related condition

PMID:25424902 PMID:25741868 PMID:28492532

NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
Ensembl chr12:175,665,853...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 | ClinVar Annotator: match by term: RPL18-related condition

PMID:25741868 PMID:28280134 PMID:28492532

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 | ClinVar Annotator: match by term: RPL35-related condition

PMID:28280134 PMID:28492532

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 | ClinVar Annotator: match by term: RPS24-related condition
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

forty-two-three domain containing 1

ClinVar Annotator: match by term: Diamond-Blackfan anemia 5

PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532

NCBI chr11:67,877,967...67,907,500
Ensembl chr11:67,877,967...67,907,511

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

leucine rich repeats and calponin homology domain containing 3

ClinVar Annotator: match by term: Diamond-Blackfan anemia 5

PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532

NCBI chr11:67,772,499...67,872,269
Ensembl chr11:67,772,506...67,872,264

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
Ensembl chr 6:67,726,032...67,729,942
Ensembl chr 7:67,726,032...67,729,942
Ensembl chr12:67,726,032...67,729,942

G

rubicon autophagy regulator

ClinVar Annotator: match by term: Diamond-Blackfan anemia 5

PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532

NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314

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:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More...

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

G

ribosomal protein L5

ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
OMIM:612561
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
ClinVar
MouseDO
RGD

PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 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
Ensembl chr 5:45,223,980...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
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
Ensembl chr15:18,308,615...18,309,382

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

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

acyl-CoA synthetase family member 3

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553

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

adenine phosphoribosyl transferase

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431

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

Btg3 associated nuclear protein

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738

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 DNA helicase 1

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

PMID:2455662 PMID:3375802 PMID:11301010 PMID:14983014 PMID:16116421 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

carbonic anhydrase 5A

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906

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

CBFA2/RUNX1 partner transcriptional co-repressor 3

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610

G

cadherin 15

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105

G

cyclin-dependent kinase 10

ClinVar Annotator: match by term: Fanconi anemia

PMID:11091222 PMID:28492532 PMID:29098742

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

G

chromatin licensing and DNA replication factor 1

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659

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

cytosolic thiouridylase subunit 2

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623

G

cytochrome b-245 alpha chain

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

G

dysbindin domain containing 1

ClinVar Annotator: match by term: Fanconi anemia

PMID:19367192 PMID:28492532

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

PMID:19367192 PMID:28492532

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

G

dopamine receptor interacting protein 1

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

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 pancytopenia
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
CTD Direct Evidence: marker/mechanism
DNA:deletions, transitions:exon, intron:multiple

ClinVar
CTD
RGD

PMID:1273304 PMID:1792455 PMID:1927896 PMID:2472832 PMID:08896563 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 pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
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's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | 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 | ClinVar Annotator: match by term: Fanconi's 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:17308347 PMID:17924555 PMID:22778927 PMID:24728327 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 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's 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 pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia

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

galactosamine (N-acetyl)-6-sulfatase

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246

G

growth arrest specific 8

ClinVar Annotator: match by term: Fanconi anemia

PMID:19367192 PMID:28492532

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

interleukin 17C

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169

G

junctophilin 3

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338

G

kelch domain containing 4

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868

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:19367192 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

mevalonate diphosphate decarboxylase

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971

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

PABPN1 like

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366

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

piezo-type mechanosensitive ion channel component 1

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501

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 | ClinVar Annotator: match by term: Fanconi pancytopenia

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

ring finger protein 166

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274

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
Ensembl chr 3:51,153,924...51,163,014

G

solute carrier family 7 member 5

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

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

snail family transcriptional repressor 3

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486

G

spermatogenesis associated 2-like

ClinVar Annotator: match by term: Fanconi anemia

PMID:11091222 PMID:28492532 PMID:29098742

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

PMID:11091222 PMID:28492532 PMID:29098742

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

TCF25 ribosome quality control complex subunit

ClinVar Annotator: match by term: Fanconi anemia

PMID:9721219 PMID:19367192 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

trafficking protein particle complex subunit 2L

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192

G

tubulin, beta 3 class III

ClinVar Annotator: match by term: Fanconi anemia

PMID:19367192 PMID:28492532 PMID:29098742

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

PMID:16199547 PMID:17436244 PMID:25741868 PMID:26633542 PMID:28492532 More...

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

PMID:11091222 PMID:28492532 PMID:29098742

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 CCCH-type containing 18

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854

G

zinc finger protein 26

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325

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 protein 469

ClinVar Annotator: match by term: Fanconi anemia

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

G

zinc finger protein, multitype 1

ClinVar Annotator: match by term: Fanconi anemia

NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591

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

CREB binding protein

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

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

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 | ClinVar Annotator: match by term: Fanconi anemia, 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: FANCC-related condition | 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: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C
OMIM:227645

OMIM
ClinVar
MouseDO

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

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

CTD
ClinVar
OMIM
MouseDO

PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 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 D | ClinVar Annotator: match by term: Fanconi anemia complementation group D2
OMIM:227646

OMIM
ClinVar
MouseDO

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

G

peroxisomal biogenesis factor 5

ClinVar Annotator: match by term: Fanconi anemia complementation group D2

NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D

PMID:16199547 PMID:17436244 PMID:25741868 PMID:26633542 PMID:28492532 More...

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

Fanconi anemia complementation group E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group E

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

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

NCBI 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

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

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:22237560 PMID:22778927 PMID:23524600 PMID:25488682 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 DNA 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

OMIM
ClinVar
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