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: rs878855213
rs878855213
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		C 0.700 CausalMutation CLINVAR Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. 27642565 2016