DisGeNET - a database of gene-disease associations

PNEUMOTHORAX, PRIMARY SPONTANEOUS, C1868193

Variant: rs137852929 ×

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:

rs137852929

MPRIP ; FLCN

0.700

CausalMutation

CLINVAR

FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation.

25126726

2014

dbSNP:

rs137852929

MPRIP ; FLCN

0.700

CausalMutation

CLINVAR

Birt-Hogg-Dube syndrome is a novel ciliopathy.

23784378

2013

dbSNP:

rs137852929

MPRIP ; FLCN

0.700

CausalMutation

CLINVAR

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

15852235

2005