FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 AlteredExpression disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease BEFREE The FLCN gene, which is responsible for BHD syndrome, was sequenced using the Sanger method in 25 probands. 31177286 2020
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease BEFREE Our results expand the mutational spectrum of FLCN gene in patients with BHD syndrome. 31567476 2019
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 AlteredExpression disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease BEFREE The suspicious cases underwent genetic analysis of the BHDS-causative gene FLCN. 31266032 2019
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 Biomarker disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease BEFREE The patient had a family history of BHD syndrome which was confirmed by FLCN gene sequencing. 31694440 2019
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 Biomarker disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 Biomarker disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease BEFREE Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report. 29720200 2018
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 CausalMutation disease CLINVAR Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? 28869776 2018
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease BEFREE Mutations in FLCN are associated with Birt-Hogg-Dubé (BHD) syndrome, a rare disorder with increased risk of renal cancer. 28039480 2017
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease 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
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 CausalMutation disease CLINVAR Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. 27734835 2017
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 CausalMutation disease CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease BEFREE Novel germline mutations in FLCN gene identified in two Chinese patients with Birt-Hogg-Dubé syndrome. 28069055 2017
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 GeneticVariation disease BEFREE Seventeen patients met the study inclusion criteria and underwent screening for FLCN mutation to confirm BHD. 28151982 2017
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
1.000 CausalMutation disease CLINVAR Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome. 28558743 2017