Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 GeneticVariation CLINVAR A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. 11281458

2001
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 CausalMutation CLINVAR Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 9662400

1998
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 CausalMutation CLINVAR An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 9662399

1998