Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C4540171
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
3-METHYLGLUTACONIC ACIDURIA, TYPE IX 		disease 0.700 None 1.000 0 2 2017 2019