Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2
0.010 Biomarker phenotype BEFREE Together these data indicate loss of ISCA2 impaired function of 4Fe-4S proteins resulting in a fatal encephalopathy accompanied by a relatively unusual combination of features including mtDNA depletion alongside complex II deficiency and hyperglycinemia that may facilitate diagnosis of ISCA2 deficiency patients. 29297947 2018