rs368778627, FLCN

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
0.700 CausalMutation CLINVAR Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X. 22068306 2012
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
0.700 CausalMutation CLINVAR Novel mutations in the folliculin gene associated with spontaneous pneumothorax. 18579543 2008
PNEUMOTHORAX, PRIMARY SPONTANEOUS
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
0.700 CausalMutation CLINVAR
Spontaneous pneumothorax
CUI: C0149781
Disease: Spontaneous pneumothorax
0.010 GeneticVariation BEFREE Three investigated family members with a history of at least one spontaneous pneumothorax were heterozygous for a single nucleotide substitution (c.779G>A) that leads to a premature stop codon (p.W260X). 18579543 2008