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: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		disease 1.000 None 1.000 1 4 1998 2019
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C0268505
Disease: Ocular albinism, type II
Ocular albinism, type II 		disease 0.760 None 1.000 1 2 1989 2019
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.700 strong 1.000 3 12 1993 2018
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C1845407
Disease: CONE-ROD DYSTROPHY, X-LINKED, 3
CONE-ROD DYSTROPHY, X-LINKED, 3 		disease 0.610 None 1.000 0 3 2009 2015
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		disease 0.400 None 0 1
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease 0.130 None 1.000 0 1 2006 2013
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.120 None 1.000 0 1 2007 2017
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.100 None 1.000 1 1 2015 2015
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C4016457
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE 		disease 0.100 None 0 1
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 1