rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
SCID Due to ADA Deficiency, Early-Onset
A
0.800
GeneticVariation
CLINVAR
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
27129325
2016
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
SCID Due to ADA Deficiency, Early-Onset
A
0.800
GeneticVariation
CLINVAR
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
26376800
2015
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
SCID Due to ADA Deficiency, Early-Onset
A
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
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
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
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
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
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
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
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
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
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
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
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
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
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
SCID Due to ADA Deficiency, Early-Onset
A
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
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
SCID Due to ADA Deficiency, Early-Onset
0.800
GeneticVariation
UNIPROT
Hot spot mutations in adenosine deaminase deficiency.
2166947
1990
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
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
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
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
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
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
rs121908735
×
Entrez Id:
100
Gene Symbol:
ADA
ADA
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