rs398124542, FLCN

N. diseases: 3
Disease: Multiple fibrofolliculomas ×
Source: CLINVAR ×
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 Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types. 26402642 2016
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
0.700 CausalMutation CLINVAR A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. 19802896 2010
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
0.700 CausalMutation CLINVAR 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