Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review. 26659639

2016

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Clinical and genetic studies of Birt-Hogg-Dubé syndrome. 12471204

2002

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome. 24190151

2013

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? 28869776

2018

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. 11100034

2000

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. 15805188

2005

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR [Birt-Hogg-Dubé syndrome: an update]. 21937013

2012

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome? 25655561

2015

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR [Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene]. 19457309

2009

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Perifollicular fibroma in Birt-Hogg-Dubé syndrome: an association revisited. 22725638

2012

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome. 25594584

2015

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Birt-hogg-dubé syndrome, a rare case in Korea confirmed by genetic analysis. 22148048

2011

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome. 28558743

2017

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Birt-Hogg-Dube syndrome is a novel ciliopathy. 23784378

2013

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Possible familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: A possible link between these two disease entities. 26028485

2015

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X. 22068306

2012

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. 22146830

2011

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. 19785621

2010

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. 27220747

2016

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? 26603437

2016

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Genetic analysis of familial spontaneous pneumothorax in an Indian family. 25827758

2015

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. 21538689

2011