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: 3000
Gene Symbol: GUCY2D
GUCY2D 		guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease 1.000 None 0.984 13 13 1995 2020
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease 0.200 None 0.967 0 4 2001 2019
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease 0.200 None 1.000 0 1 2005 2018
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		TUB like protein 1 0.623 0.462 5.7E-04
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease 0.140 None 1.000 1 1 2007 2017
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		prominin 1 0.410 0.846 1.9E-22
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease 0.100 None 0 2