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: rs778809577
rs778809577
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		A 0.700 GeneticVariation CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800 2015
dbSNP: rs778809577
rs778809577
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		A 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
dbSNP: rs778809577
rs778809577
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		A 0.700 GeneticVariation CLINVAR Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848 2011
dbSNP: rs778809577
rs778809577
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		A 0.700 GeneticVariation CLINVAR Adenosine deaminase deficiency: molecular basis and recent developments. 7554472 1995
dbSNP: rs778809577
rs778809577
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		A 0.700 CausalMutation CLINVAR