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: rs1555844395
rs1555844395
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		C 0.700 GeneticVariation CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240 2015