ADA, adenosine deaminase, 100

N. diseases: 379; N. variants: 61
Disease: SCID Due to ADA Deficiency, Early-Onset ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease 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
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. 19665771 2009
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography. 20544538 2010
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240 2015
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR 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
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. 8178821 1994
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease UNIPROT Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. 7599635 1995
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). 1680289 1991
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity. 9361033 1997
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800 2015
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Combined immunodeficiencies: twenty years experience from a single center in Turkey. 27095930 2016
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution. 2773932 1989
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240 2015
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612 1998
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Adenosine deaminase deficiency: molecular basis and recent developments. 7554472 1995
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease 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
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing. 3475710 1987
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Severe combined immunodeficiency due to adenosine deaminase deficiency. 22764473 2012
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. 8614422 1996
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease 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
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient. 18952502 2009
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease 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
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Hot spot mutations in adenosine deaminase deficiency. 2166947 1990
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. 27129325 2016
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800 2015