ASAH1, N-acylsphingosine amidohydrolase 1, 427

N. diseases: 176; N. variants: 21
Disease: Spinal Muscular Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.150 GeneticVariation disease 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
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.150 Biomarker disease BEFREE ASAH1 molecular analysis should be considered in the diagnostic testing of non-5q adult SMA patients. 27026573 2016
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.150 GeneticVariation disease BEFREE Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. 25847462 2015
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.150 GeneticVariation disease BEFREE Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1. 25578555 2015
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.150 GeneticVariation disease BEFREE Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. 22703880 2012
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.150 Biomarker disease HPO