rs776679653, ISCA1

N. diseases: 11
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
0.800 CausalMutation CLINVAR Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in <i>ISCA1</i>. 30105122 2018
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
0.800 GeneticVariation UNIPROT Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
0.800 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017