DisGeNET - a database of gene-disease associations

Multiple fibrofolliculomas, C0346010

Variant: rs587782069 ×

Source: CLINVAR ×

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:

rs587782069

FLCN

0.700

CausalMutation

CLINVAR

Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.

27652079

2016

dbSNP:

rs587782069

FLCN

0.700

CausalMutation

CLINVAR

Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?

26603437

2016

dbSNP:

rs587782069

FLCN

0.700

CausalMutation

CLINVAR

An 18-year-old man with recurrent pneumothorax since he was 10-year-old.

27257988

2016

dbSNP:

rs587782069

FLCN

0.700

CausalMutation

CLINVAR

A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.

23264078

2013

dbSNP:

rs587782069

FLCN

0.700

CausalMutation

CLINVAR

Birt-Hogg-Dube syndrome is a novel ciliopathy.

23784378

2013