FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Disease: Familial spontaneous pneumothorax ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4275252
Disease: Familial spontaneous pneumothorax
Familial spontaneous pneumothorax 		0.070 GeneticVariation disease BEFREE Of the 25 probands with FSP, 16 [64.0%, 95% confidence interval (CI) 43.8-84.2%] harboured FLCN germline mutations. 31177286 2020
CUI: C4275252
Disease: Familial spontaneous pneumothorax
Familial spontaneous pneumothorax 		0.070 GeneticVariation disease BEFREE We found that a heterozygous mutation in exon 11 of FLCN c. 1273C>T (p.Gln425Ter), which was identified for the first time in our study, might cause isolated familial spontaneous pneumothorax. 31625278 2019
CUI: C4275252
Disease: Familial spontaneous pneumothorax
Familial spontaneous pneumothorax 		0.070 GeneticVariation disease BEFREE To investigate the mutation of FLCN gene in a familial spontaneous pneumothorax. 27486260 2017
CUI: C4275252
Disease: Familial spontaneous pneumothorax
Familial spontaneous pneumothorax 		0.070 GeneticVariation disease BEFREE Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. 19483054 2009
CUI: C4275252
Disease: Familial spontaneous pneumothorax
Familial spontaneous pneumothorax 		0.070 GeneticVariation disease BEFREE To determine whether folliculin sequence variants are risk factors for severe COPD, we genotyped seven previously reported Birt-Hogg-Dubé or familial spontaneous pneumothorax associated folliculin mutations in 152 severe COPD probands participating in the Boston Early-Onset COPD Study. 19116017 2008
CUI: C4275252
Disease: Familial spontaneous pneumothorax
Familial spontaneous pneumothorax 		0.070 GeneticVariation disease BEFREE In the last 18 months, mutations in the gene encoding folliculin (FLCN) have been identified in individuals with familial spontaneous pneumothorax. 16825879 2006
CUI: C4275252
Disease: Familial spontaneous pneumothorax
Familial spontaneous pneumothorax 		0.070 GeneticVariation disease BEFREE Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. 15805188 2005