FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018552
Disease: Hamartoma
Hamartoma
0.300 Biomarker disease CTD_human Folliculin (FLCN) is the tumor suppressor associated with Birt-Hogg-Dubé (BHD) syndrome that predisposes patients to incident of hamartomas and cysts in multiple organs. 27072130 2016
CUI: C0018552
Disease: Hamartoma
Hamartoma
0.300 Biomarker disease CTD_human 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