Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
0.050 Biomarker group BEFREE Farber disease (FD) is a rare lysosomal storage disorder (LSD) characterized by systemic ceramide accumulation caused by a deficiency in acid ceramidase (ACDase). 31186526 2019
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
0.050 Biomarker group BEFREE Farber disease (FD) is a debilitating lysosomal storage disorder (LSD) caused by a deficiency of acid ceramidase (ACDase) activity due to mutations in the gene ASAH1. 29167126 2018
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
0.050 Biomarker group BEFREE Farber disease is a rare lysosomal storage disorder (LSD) caused by a deficiency of acid ceramidase (AC) activity and subsequent accumulation of ceramide. 18805722 2008
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
0.050 AlteredExpression group BEFREE Farber disease is a rare severe lysosomal storage disorder due to a deficient activity of the enzyme acid ceramidase (AC). 10365663 1999
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
0.050 AlteredExpression group BEFREE A deficiency in human AC activity leads to the lysosomal storage disorder, Farber disease (FD). 10610716 1999