ASAH1, N-acylsphingosine amidohydrolase 1, 427

N. diseases: 176; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.100 CausalMutation disease CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018