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: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease 0.120 None 1.000 0 4 2001 2004
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
collagen type XVII alpha 1 chain 0.545 0.769 2.3E-27
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease 0.100 None 0 1
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
dyskerin pseudouridine synthase 1 0.547 0.769 1.00
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease 0.100 None 0 1