Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
0.010 GeneticVariation phenotype BEFREE Mutations of N-acylsphingosine amidohydrolase 1 are known to separately cause Farber disease (arthritis, subcutaneous nodules, and dysphonia) or SMA with progressive myoclonic epilepsy. 27650050 2016