Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
0.110 Biomarker phenotype BEFREE In the last years, mutations in four genes (NFU1, BOLA3, ISCA2 and IBA57) have been related to a new group of multiple mitochondrial dysfunction syndromes characterized by lactic acidosis, hyperglycinemia, multiple defects of the respiratory chain complexes, and impairment of four lipoic acid-dependent enzymes: α-ketoglutarate dehydrogenase complex, pyruvic dehydrogenase, branched-chain α-keto acid dehydrogenase complex and the H protein of the glycine cleavage system. 27785568 2017
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
0.110 Biomarker phenotype HPO