Adenosine Deaminase Deficiency Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. (Human Disease Ontology, DOID_5810)
External Link https://www.disgenet.org/browser/0/1/0/C0268124
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Genes

15 genes associated with the disease Adenosine Deaminase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADA adenosine deaminase
ADA2 adenosine deaminase 2
ADK adenosine kinase
ADSL adenylosuccinate lyase
CD34 CD34 molecule
DCLRE1C DNA cross-link repair 1C
DPP4 dipeptidyl-peptidase 4
IL2RG interleukin 2 receptor, gamma
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JAK3 Janus kinase 3
NT5C2 5'-nucleotidase, cytosolic II
PAEP progestagen-associated endometrial protein
PNP purine nucleoside phosphorylase
RAG1 recombination activating gene 1
TLR2 toll-like receptor 2