Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
0.100 CausalMutation phenotype CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017