Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR Genetic analysis of familial spontaneous pneumothorax in an Indian family. 25827758

2015
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. 25519458

2014
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		TG 0.700 CausalMutation CLINVAR Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. 20522427

2010
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		TG 0.700 CausalMutation CLINVAR Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. 17496196

2007
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR Clinical and genetic studies of Birt-Hogg-Dubé syndrome. 12471204

2002
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		TG 0.700 CausalMutation CLINVAR Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. 12204536

2002
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		TG 0.700 CausalMutation CLINVAR Clinical and genetic studies of Birt-Hogg-Dubé syndrome. 12471204

2002