Source: GENOMICS_ENGLAND

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 0 0 1976 2020
Entrez Id: 2395
Gene Symbol: FXN
FXN 		frataxin 0.510 0.654 0.34
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		disease 0.800 None 0.983 4 0 1997 2020
Entrez Id: 2395
Gene Symbol: FXN
FXN 		frataxin 0.510 0.654 0.34
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		disease 0.360 strong 1.000 1 0 1981 2019
Entrez Id: 2395
Gene Symbol: FXN
FXN 		frataxin 0.510 0.654 0.34
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 None 0 0