Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476183
rs199476183
Entrez Id: 285440
Gene Symbol: CYP4V2
CYP4V2
CUI: C1859486
Disease:
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		G 0.700 CausalMutation CLINVAR Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy. 25593508 2014
dbSNP: rs199476183
rs199476183
Entrez Id: 285440
Gene Symbol: CYP4V2
CYP4V2
CUI: C1859486
Disease:
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		G 0.700 CausalMutation CLINVAR Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. 23661369 2013
dbSNP: rs199476183
rs199476183
Entrez Id: 285440
Gene Symbol: CYP4V2
CYP4V2
CUI: C1859486
Disease:
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		G 0.700 CausalMutation CLINVAR Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa. 22693542 2012
dbSNP: rs199476183
rs199476183
Entrez Id: 285440
Gene Symbol: CYP4V2
CYP4V2
CUI: C1859486
Disease:
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		G 0.700 CausalMutation CLINVAR Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. 21565171 2011
dbSNP: rs199476183
rs199476183
Entrez Id: 285440
Gene Symbol: CYP4V2
CYP4V2
CUI: C1859486
Disease:
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		G 0.700 CausalMutation CLINVAR Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. 15042513 2004