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: 7287
Gene Symbol: TULP1
TULP1 		TUB like protein 1 0.623 0.462 5.7E-04
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		disease 0.100 None 0 1
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		disease 0.100 None 0 1