Gene: PKIG ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240 2015
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 CausalMutation disease CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612 1998
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 CausalMutation disease 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
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 CausalMutation disease CLINVAR Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. 17185467 2007
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. 9414266 1998
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 CausalMutation disease CLINVAR Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing. 3475710 1987
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 CausalMutation disease CLINVAR Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy. 23260757 2013
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800 2015
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients. 16276484 2005
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID). 1346349 1992
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 19179314 2009
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 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
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612 1998
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848 2011
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 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
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations. 8401541 1993
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution. 2773932 1989
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 CausalMutation disease CLINVAR A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution. 2773932 1989
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity. 9361033 1997
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 CausalMutation disease CLINVAR Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro). 8258146 1993
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 CausalMutation disease CLINVAR Adenosine deaminase deficiency in adults. 9108404 1997
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 CausalMutation disease CLINVAR Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency. 1974554 1990
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience. 28266921 2019
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 CausalMutation disease CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800 2015
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. 8614422 1996