ADPRS, ADP-ribosylserine hydrolase, 54936

N. diseases: 30; N. variants: 9
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. 30100084 2018