Source: CLINGEN

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: 2395
Gene Symbol: FXN
FXN
frataxin 0.510 0.654 0.34
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
disease 0.900 definitive 0.997 7 0 1976 2020