Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 AlteredExpression BEFREE Salivary gland tumors that developed in BHD patients exhibited an upregulated mTOR-S6R pathway as well as increased GPNMB expression, which are characteristics of FLCN-deficient cells. 31806376

2020

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE Birt-Hogg-Dubé (BHD) syndrome is associated with the development of hereditary renal cell carcinoma (RCC) and is caused by a germline mutation in the folliculin gene. 31777168

2020

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE The FLCN gene, which is responsible for BHD syndrome, was sequenced using the Sanger method in 25 probands. 31177286

2020

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE The literature has reported cases diagnosed with familial PSP, who have no manifestations of Birt-Hogg-Dubé (BHD) syndrome but mutations in different exons of the Folliculin (FLCN) gene. 31625278

2019

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE Our results expand the mutational spectrum of FLCN gene in patients with BHD syndrome. 31567476

2019

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 AlteredExpression BEFREE These findings suggest that the decreased FLCN expression itself without producing mutated folliculin proteins can be at risk for developing clinical manifestations of BHDS: fibrofolliculomas, lung cysts, and tumorigenesis in the kidneys. 31778855

2019

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE The suspicious cases underwent genetic analysis of the BHDS-causative gene FLCN. 31266032

2019

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 Biomarker BEFREE The causative gene for BHDS is the folliculin (FLCN) gene and more than 200 mutations have been reported in FLCN, mostly truncating mutations. 31615547

2019

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE The patient had a family history of BHD syndrome which was confirmed by FLCN gene sequencing. 31694440

2019

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 Biomarker BEFREE The diagnosis of BHDS was established by folliculin (FLCN) genetic testing, and the results were compared to the histopathological findings of FFs or trichodiscomas (TDs). 29157599

2018

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 Biomarker BEFREE The Birt-Hogg-Dubé (BHD) syndrome related protein FLCN has recently been implicated in the vesicular trafficking processes by interacting with several Rab family GTPases. 30446510

2018

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE Ongoing research efforts are focused on clarifying the primary FLCN-associated pathway(s) that drives the development of fibrofolliculomas, lung cysts and kidney tumors in BHD patients carrying germline FLCN mutations. 28970150

2018

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE Birt-Hogg-Dubé syndrome (BHD, also referred to as Hornstein-Knickenberg syndrome) is an autosomal dominant tumor syndrome caused by mutations in the FLCN gene located on chromosome 17. 29537177

2018

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report. 29720200

2018

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 CausalMutation CLINVAR Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? 28869776

2018

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation. 27722904

2017

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé syndrome, a rare tumor syndrome which is characterized by the combination of renal cell carcinoma, pneumothorax and skin tumors. 28499369

2017

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have been identified in patients with bilateral multifocal (BMF) kidney tumours and clinical manifestations of Birt-Hogg-Dubé (BHD) syndrome, or with BMF kidney tumours as the only manifestation; however, their impact on FLCN function remains to be determined. 28007907

2017

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE Mutations in FLCN are associated with Birt-Hogg-Dubé (BHD) syndrome, a rare disorder with increased risk of renal cancer. 28039480

2017

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE In this study, we report the identification of 13 variants and three polymorphisms in the FLCN gene in 143 Danish patients or families with suspected BHD syndrome. 27734835

2017

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 CausalMutation CLINVAR Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. 27734835

2017

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE Novel germline mutations in FLCN gene identified in two Chinese patients with Birt-Hogg-Dubé syndrome. 28069055

2017

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation BEFREE Seventeen patients met the study inclusion criteria and underwent screening for FLCN mutation to confirm BHD. 28151982

2017

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 CausalMutation CLINVAR Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome. 28558743

2017