abnormality of the thymus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. (Human Phenotype Ontology, HP_0000777)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000777
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36 genes associated with the abnormality 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
AKT1 v-akt murine thymoma viral oncogene homolog 1
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
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC8 excision repair cross-complementation group 8
FAM111A family with sequence similarity 111, member A
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
G6PC3 glucose 6 phosphatase, catalytic, 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GRIP1 glutamate receptor interacting protein 1
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
PTEN phosphatase and tensin homolog
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