rs121908735, ADA

N. diseases: 3
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation CLINVAR Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. 27129325 2016
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800 2015
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240 2015
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation UNIPROT Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online. 10200056 1998
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation UNIPROT An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity. 9361033 1997
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation UNIPROT Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. 7599635 1995
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation UNIPROT Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID). 8299233 1994
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation UNIPROT Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. 8227344 1993
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation UNIPROT Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions. 1284479 1992
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation CLINVAR Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions. 1284479 1992
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation UNIPROT Hot spot mutations in adenosine deaminase deficiency. 2166947 1990
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation UNIPROT Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. 2783588 1989
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation UNIPROT Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. 3182793 1988
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation UNIPROT Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency. 3839802 1985
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.800 GeneticVariation UNIPROT Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines. 6208479 1984
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240 2015
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. 22447032 2012
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612 1998
Severe combined immunodeficiency due to adenosine deaminase deficiency
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
0.700 CausalMutation CLINVAR