ISCA1, iron-sulfur cluster assembly 1, 81689

N. diseases: 23; N. variants: 6
Disease: Multiple Mitochondrial Dysfunctions Syndrome ×
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: 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
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C3502075
Disease:
Multiple Mitochondrial Dysfunctions Syndrome 		T 0.710 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017