ISCA1, iron-sulfur cluster assembly 1, 81689

N. diseases: 23; N. variants: 6
Disease: Microcephaly (physical finding) ×
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: C4551563
Disease:
Microcephaly (physical finding) 		T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017