rs776679653, ISCA1

N. diseases: 11
Disease: Multiple Mitochondrial Dysfunctions Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Mitochondrial Dysfunctions Syndrome
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
0.710 GeneticVariation BEFREE Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Multiple Mitochondrial Dysfunctions Syndrome
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
0.710 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017