Canavan disease

Disease Term Disease ID Gene Symbol Classification References Source
Canavan Disease C0206307 ASPA Causal Pathogenic evidence from ClinVar 7599639, 7668285, 8023850, 8037206, 8252036, 8659549, 9452117, 10407784, 10564886, 10701101, 10909858, 12205125, 12638939, 12706335, 16138249, 16217711, 16437572, 16802711, 16854607, 17027983, 17194761, 17391648, 17999961, 18070137, 18978679, 19685155, 20129749, 21228398, 21907889, 22019069, 22219087, 22611636, 22750302, 22850825, 22878930, 23233226, 23253610, 23971085, 24036223, 25003821, 25107638, 26586007, 27604308, 27927234, 28101991 ClinVar
SPATA22 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7668285, 8023850, 8037206, 8252036, 8659549, 10407784, 10701101, 10909858, 12205125, 12638939, 16138249, 16217711, 16437572, 16802711, 16854607, 17027983, 17194761, 17391648, 17999961, 18070137, 18978679, 19685155, 20129749, 21228398, 21907889, 22019069, 22219087, 22611636, 22750302, 22850825, 22878930, 23233226, 23253610, 23971085, 25003821, 25107638, 26586007, 27927234 -
Canavan Disease, Familial Form C0751663 ASPA Causal Pathogenic evidence from ClinVar 8023850, 8252036, 8659549, 10407784, 10701101, 10909858, 11238686, 12638939, 16854607, 17027983, 17194761, 18978679, 22019069, 22850825, 22878930, 23253610 ClinVar
SPATA22 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8023850, 8252036, 8659549, 10407784, 10701101, 10909858, 11238686, 12638939, 16854607, 18978679, 22019069, 22850825, 22878930, 23253610 -
Canavan Disease, Infantile C0751666 ASPA Causal Pathogenic evidence from ClinVar 17027983, 17194761, 21625469 ClinVar
Canavan Disease, Juvenile C0751667 ASPA Causal Pathogenic evidence from ClinVar 17027983, 17194761, 21625469 ClinVar
Canavan Disease, Neonatal C0751664 ASPA Causal Pathogenic evidence from ClinVar 17027983, 17194761, 21625469 ClinVar
Canavan Disease, Sporadic Form C0751665 ASPA Causal Pathogenic evidence from ClinVar 17027983, 17194761 ClinVar
Mild Canavan disease 314918 ASPA Causal Pathogenic evidence from ClinVar - ClinVar
Severe Canavan disease 314911 ASPA Causal Pathogenic evidence from ClinVar - ClinVar