Disease: Absent corpus callosum cataract immunodeficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776942
rs587776942
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
CUI: C1855772
Disease:
Absent corpus callosum cataract immunodeficiency 		A 0.700 CausalMutation CLINVAR Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. 23222957 2013