DisGeNET - a database of gene-disease associations

CYP4V2, cytochrome P450 family 4 subfamily V member 2, 285440

N. diseases: 42; N. variants: 41

Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY ×

Variant: rs119103283 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs119103283

Entrez Id:	285440
Gene Symbol:	CYP4V2

CYP4V2

CUI:	C1859486
Disease:

BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY

0.720

GeneticVariation

BEFREE

Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation.

23538635

2013

dbSNP:

rs119103283

Entrez Id:	285440
Gene Symbol:	CYP4V2

CYP4V2

CUI:	C1859486
Disease:

BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY

0.720

GeneticVariation

BEFREE

The CYP4V2 p.I111T (c.332T>C) mutant allele may be especially prevalent among patients with BCD in Lebanon, resulting from a single founder.

22605929

2012

dbSNP:

rs119103283

Entrez Id:	285440
Gene Symbol:	CYP4V2

CYP4V2

CUI:	C1859486
Disease:

BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY

0.720

CausalMutation

CLINVAR