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: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE <b>Background</b>: To our knowledge, this is the first report of patient with BHD syndrome caused by a novel mutation in the FLCN gene who developed a cerebral venous sinus thrombosis(CVST).<b>Case presentation</b>: A 62-year-old male patient with a history of hypertension and two case of spontaneous pneumothorax. 31694440 2019
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE The aim of this study is to present a Turkish family in which 13 members from three generations of the same family developed recurrent isolated spontaneous pneumothorax with a novel mutation in the FLCN. 31625278 2019
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE Birt-Hogg-Dube (BHD) disease is an autosomal dominant cancer syndrome characterized by benign skin tumors, renal cancer and spontaneous pneumothorax and is caused by mutations in the Folliculin (FLCN) gene. 28623476 2018
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE Germline mutations in the novel tumor suppressor gene FLCN are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome that predisposes to fibrofolliculomas, lung cysts and spontaneous pneumothorax, and an increased risk for developing kidney tumors. 28970150 2018
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE A nonsense mutation of FLCN was found in a spontaneous pneumothorax family. 27486260 2017
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant disease characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax; its cause is a heterozygous mutation in the FLCN gene. 28805452 2017
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 Biomarker disease BEFREE The present identification of two mutations not only further supports the important role of tumor suppressor FLCN in BHD and primary spontaneous pneumothorax, but also expands the spectrum of <i>FLCN</i> mutations and will provide insight into genetic diagnosis and counseling of families with BHD. 28785590 2017
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 Biomarker disease BEFREE Promoter methylation is not associated with FLCN irregulation in lung cyst lesions of primary spontaneous pneumothorax. 26398834 2015
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax. 25807935 2015
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE We identified a de novo FLCN mutation, c.499C>T (p.Gln167X), in a patient who presented with spontaneous pneumothorax. 23264078 2013
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax. 22446046 2012
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE Germline mutations in the folliculin (FLCN) gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS), a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothorax, and the development of renal neoplasias. 21162720 2010
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 Biomarker disease GENOMICS_ENGLAND Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. 19483054 2009
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE Mutations in the folliculin gene are associated with cystic lung lesions in an otherwise morphological normal lung and predispose to spontaneous pneumothorax. 18579543 2008
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. 18505456 2008
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 GeneticVariation disease BEFREE Several individuals with a family history of spontaneous pneumothorax have a mutation in the folliculin gene. 16825879 2006
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 Biomarker disease CTD_human 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
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
0.700 Biomarker disease HPO