DisGeNET - a database of gene-disease associations

Behcet Syndrome, C0004943

Variant: rs104895297 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104895297

rs104895297

MVK

0.010

GeneticVariation

BEFREE

Two patients had paired mutations in the MVK gene (genotypes V377I/V377I and V377I/S135L) and displayed typical features of BD and MKD.

2007