pancytopenia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001876
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Genes

34 genes associated with the pancytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATR ATR serine/threonine kinase
CD27 CD27 molecule
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
DHFR dihydrofolate reductase
DKC1 dyskeratosis congenita 1, dyskerin
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
HOXA11 homeobox A11
ITK IL2-inducible T-cell kinase
IVD isovaleryl-CoA dehydrogenase
LMBRD1 LMBR1 domain containing 1
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MPL MPL proto-oncogene, thrombopoietin receptor
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
PALB2 partner and localizer of BRCA2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
RAB40AL RAB40A, member RAS oncogene family-like
RNASEH2A ribonuclease H2, subunit A
SBDS Shwachman-Bodian-Diamond syndrome
SH2D1A SH2 domain containing 1A
SRP72 signal recognition particle 72kDa
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCN2 transcobalamin II
TERC telomerase RNA component
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
WRAP53 WD repeat containing, antisense to TP53