Source: ORPHANET

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: 64756
Gene Symbol: ATPAF1
ATPAF1
ATP synthase mitochondrial F1 complex assembly factor 1 0.792 0.269 1.3E-02
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency
disease 0.300 None 0 0