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: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 1.000 definitive 0.994 16 103 1960 2020
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 1.000 None 0.938 3 12 2006 2018
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		patched 2 0.563 0.692 3.4E-16
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 0.770 limited 1.000 1 2 1985 2017