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: C0268505
Disease: Ocular albinism, type II
Ocular albinism, type II 		0.760 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0268505
Disease: Ocular albinism, type II
Ocular albinism, type II 		0.760 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019