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 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 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 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 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 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 GeneticVariation disease CLINVAR Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. 8614422 1996
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. 3182793 1988
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 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
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Hot spot mutations in adenosine deaminase deficiency. 2166947 1990
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Adenosine deaminase deficiency: molecular basis and recent developments. 7554472 1995
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Genotype is an important determinant of phenotype in adenosine deaminase deficiency. 14499267 2003
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation 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 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
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 GeneticVariation disease CLINVAR Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. 8051429 1994
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