ADA, adenosine deaminase, 100

N. diseases: 18; N. variants: 57
Disease: SCID Due to ADA Deficiency, Early-Onset ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520217
rs1057520217
Entrez Id: 100
Gene Symbol: ADA
ADA
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		A 0.700 CausalMutation CLINVAR Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. 25875700 2015
dbSNP: rs1057520217
rs1057520217
Entrez Id: 100
Gene Symbol: ADA
ADA
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		A 0.700 CausalMutation CLINVAR Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. 25954555 2012
dbSNP: rs1057520217
rs1057520217
Entrez Id: 100
Gene Symbol: ADA
ADA
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		A 0.700 CausalMutation CLINVAR Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. 8589684 1995