ISCA1, iron-sulfur cluster assembly 1, 81689

N. diseases: 23; N. variants: 6
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C4539919
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		T 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
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
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
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C4539919
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		T 0.800 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017