FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome. 26581862 2019
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? 28869776 2018
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report. 29720200 2018
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome. 28558743 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. 28499369 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. 27734835 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans. 28151982 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review. 26659639 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. 27220747 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? 26603437 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation. 27780965 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types. 26402642 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Familial pneumothoraces: Birt-Hogg-Dubé syndrome. 27906882 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy. 27470329 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR An 18-year-old man with recurrent pneumothorax since he was 10-year-old. 27257988 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome? 25655561 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome. 25594584 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Possible familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: A possible link between these two disease entities. 26028485 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Genetic analysis of familial spontaneous pneumothorax in an Indian family. 25827758 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Perifollicular fibromas associated with Birt-Hogg-Dubé syndrome. 26387484 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman. 26943385 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. 24994497 2014
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR An oncocytic adrenal tumour in a patient with Birt-Hogg-Dubé syndrome. 23848572 2014