Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3419
Gene Symbol: IDH3A
IDH3A
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND Using exome sequencing, we identified a homozygous mutation, Pro-304-His in the IDH3A gene, in a patient suffering from infantile encephalopathy with peripheral and autonomic nervous system involvement. 28058510

2017