rs368778627, FLCN

N. diseases: 3
Disease: Multiple fibrofolliculomas ×
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