rs786203218, 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 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
0.700 CausalMutation CLINVAR Familial pneumothoraces: Birt-Hogg-Dubé syndrome. 27906882 2016
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
0.700 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex. 22571569 2012
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
0.700 CausalMutation CLINVAR Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. 21538689 2011
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
0.700 CausalMutation CLINVAR Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. 22146830 2011
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
0.700 CausalMutation CLINVAR Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. 18505456 2008
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
0.700 GeneticVariation CLINVAR