Gene: GBAP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.100 Biomarker group BEFREE Gaucher disease is the most frequent lysosomal storage disorder due to the deficiency of the acid β-glucosidase, encoded by the GBA gene. 24022302 2014
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.100 AlteredExpression group BEFREE Mutations in the gene that encodes the lysosomal enzyme acid β-glucosidase lead to reduced cellular activity and accumulation of glycosphingolipid substrates, biochemical hallmarks of the lysosomal storage disorder Gaucher disease (GD). 24894562 2014
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.100 Biomarker group BEFREE Gaucher disease is a lysosomal storage disease resulting from a defect in the enzyme acid β-glucosidase 1. β-glucosidase 2 is an enzyme with similar glucosylceramidase activity but to date has not been associated with a monogenic disorder. 23332917 2013
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.100 GeneticVariation group BEFREE Gaucher disease is the most frequent lysosomal storage disorder due to the autosomal recessive deficiency of acid β-glucosidase. 21036086 2011
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.100 Biomarker group BEFREE Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid beta-glucosidase. 18979180 2008
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.100 Biomarker group BEFREE Gaucher disease (GD) is caused by deficiency of acid beta-glucocerebrosidase and is the most common lysosomal storage disease. 16253723 2005
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.100 AlteredExpression group BEFREE Gaucher disease is a lysosomal storage disorder characterized by a deficiency of the enzyme acid beta-glucosidase. 11825063 2002
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.100 AlteredExpression group BEFREE Gaucher disease (GD) is a lysosomal storage disorder resulting from impaired activity of lysosomal beta-glucocerebrosidase. 9182788 1997
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.100 Biomarker group BEFREE Gaucher disease caused by hereditary deficiency of beta-glucocerebrosidase is the most prevalent lysosomal storage disease. 9043866 1996
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.100 GeneticVariation group BEFREE Gaucher disease is a lysosomal storage disorder resulting form deficiency of the acid beta-glucosidase, glucocerebrosidase (GC). 8593601 1995
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.100 Biomarker group BEFREE Gaucher disease is a lysosomal storage disorder resulting from a deficiency of acid beta-glucosidase. 6418635 1983