Disease: Amish Infantile Epilepsy Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893668
rs104893668
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5
CUI: C1836824
Disease:
Amish Infantile Epilepsy Syndrome 		A 0.700 CausalMutation CLINVAR Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. 22990144 2013
dbSNP: rs104893668
rs104893668
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5
CUI: C1836824
Disease:
Amish Infantile Epilepsy Syndrome 		A 0.700 CausalMutation CLINVAR Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. 23436467 2013
dbSNP: rs104893668
rs104893668
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5
CUI: C1836824
Disease:
Amish Infantile Epilepsy Syndrome 		A 0.700 CausalMutation CLINVAR Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. 15502825 2004