DisGeNET - a database of gene-disease associations

Multiple fibrofolliculomas, C0346010

Variant: rs398124529 ×

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:

rs398124529

rs398124529

MPRIP ; FLCN

C

0.700

CausalMutation

CLINVAR

The Case ; Bilateral kidney tumors and lung cysts.

2013

dbSNP:

rs398124529

rs398124529

MPRIP ; FLCN

C

0.700

CausalMutation

CLINVAR

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

2011

dbSNP:

rs398124529

rs398124529

MPRIP ; FLCN

C

0.700

GeneticVariation

CLINVAR