Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255683
rs879255683
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. 26334087

2015
dbSNP: rs879255683
rs879255683
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR Identification and characterization of a novel folliculin-interacting protein FNIP2. 18403135

2008
dbSNP: rs879255683
rs879255683
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. 18663353

2008
dbSNP: rs879255683
rs879255683
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. 17028174

2006
dbSNP: rs879255683
rs879255683
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005
dbSNP: rs879255683
rs879255683
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		A 0.700 GeneticVariation CLINVAR