DisGeNET - a database of gene-disease associations

Multiple fibrofolliculomas, C0346010

Variant: rs398124541 ×

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:

rs398124541

FLCN

0.700

CausalMutation

CLINVAR

Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.

27643397

2016

dbSNP:

rs398124541

FLCN

0.700

CausalMutation

CLINVAR

Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.

27470329

2016

dbSNP:

rs398124541

FLCN

0.700

CausalMutation

CLINVAR

Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

27356891

2016

dbSNP:

rs398124541

FLCN

0.700

CausalMutation

CLINVAR

Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.

19785621

2010

dbSNP:

rs398124541

FLCN

0.700

CausalMutation

CLINVAR

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

18794106

2008