Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563

2017