aplasia/hypoplasia of the thymus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the thymus. (Human Phenotype Ontology, HP_0010515)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010515
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29 genes associated with the aplasia/hypoplasia of the thymus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ADA adenosine deaminase
AK2 adenylate kinase 2
ANTXR2 anthrax toxin receptor 2
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATM ATM serine/threonine kinase
CHD7 chromodomain helicase DNA binding protein 7
COMT catechol-O-methyltransferase
DCLRE1C DNA cross-link repair 1C
FAM111A family with sequence similarity 111, member A
G6PC3 glucose 6 phosphatase, catalytic, 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
IL2RG interleukin 2 receptor, gamma
NBN nibrin
NDE1 nudE neurodevelopment protein 1
PEX5 peroxisomal biogenesis factor 5
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
TBX1 T-box 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TP63 tumor protein p63
TTC7A tetratricopeptide repeat domain 7A
UFD1L ubiquitin fusion degradation 1 like (yeast)
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1