rs776679653, ISCA1

N. diseases: 11
Disease: Pachygyria ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pachygyria
CUI: C0266483
Disease: Pachygyria
0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017