Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.400 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. 30100084 2018
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.400 Biomarker disease HPO