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: 5145
Gene Symbol: PDE6A
PDE6A 		phosphodiesterase 6A 0.691 0.269 6.6E-25
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.100 None 0 1
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2 		GRB10 interacting GYF protein 2 0.711 0.269 1.00
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.100 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.100 None 0 1