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 Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. 8051429 1994
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 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 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 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 CausalMutation 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 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 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 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 Hot spot mutations in adenosine deaminase deficiency. 2166947 1990
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 Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. 3182793 1988
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