Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		0.600 GeneticVariation UNIPROT Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563

2017