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: rs79281338
rs79281338
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		T 0.700 GeneticVariation CLINVAR Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience. 28266921 2019
dbSNP: rs79281338
rs79281338
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		T 0.700 CausalMutation CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800 2015
dbSNP: rs79281338
rs79281338
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		T 0.700 GeneticVariation CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800 2015
dbSNP: rs79281338
rs79281338
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		T 0.700 GeneticVariation CLINVAR Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography. 20544538 2010
dbSNP: rs79281338
rs79281338
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		T 0.700 GeneticVariation CLINVAR Genotype is an important determinant of phenotype in adenosine deaminase deficiency. 14499267 2003
dbSNP: rs79281338
rs79281338
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		T 0.700 CausalMutation CLINVAR T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation. 11313286 2001
dbSNP: rs79281338
rs79281338
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		T 0.700 GeneticVariation CLINVAR Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency. 11160213 2001
dbSNP: rs79281338
rs79281338
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		T 0.700 GeneticVariation CLINVAR T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation. 11313286 2001