rs776679653, ISCA1

N. diseases: 11
Disease: Increased serum lactate ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Increased serum lactate
CUI: C1836440
Disease: Increased serum lactate
0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017