FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Disease: Multiple fibrofolliculomas ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255683
rs879255683
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. 26334087 2015
dbSNP: rs879255683
rs879255683
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR Identification and characterization of a novel folliculin-interacting protein FNIP2. 18403135 2008
dbSNP: rs879255683
rs879255683
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
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
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
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
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
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
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		A 0.700 GeneticVariation CLINVAR