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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome. 26581862

2019
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? 28869776

2018
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. 27734835

2017
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. 27734835

2017
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. 27220747

2016
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. 27220747

2016
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review. 26659639

2016
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Perifollicular fibromas associated with Birt-Hogg-Dubé syndrome. 26387484

2015
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Possible familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: A possible link between these two disease entities. 26028485

2015
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genetic analysis of familial spontaneous pneumothorax in an Indian family. 25827758

2015
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR When the chest is clueless, look downstairs. 23741947

2013
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Birt-Hogg-Dube syndrome is a novel ciliopathy. 23784378

2013
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Birt-hogg-dubé syndrome, a rare case in Korea confirmed by genetic analysis. 22148048

2011
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. 20618353

2011
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. 21538689

2011
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dubé syndrome. 21401403

2011
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. 18234728

2008
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. 18234728

2008
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. 17124507

2007
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Clinical and genetic studies of Birt-Hogg-Dubé syndrome. 12471204

2002
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Clinical and genetic studies of Birt-Hogg-Dubé syndrome. 12471204

2002
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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