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: rs199476201 ×

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:

rs199476201

rs199476201

Entrez Id:	285440
Gene Symbol:	CYP4V2

CYP4V2

CUI:	C1859486
Disease:

BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY

A

0.700

CausalMutation

CLINVAR