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: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 GeneticVariation disease BEFREE Birt-Hogg-Dubé (BHD) Syndrome is a rare genodermatosis caused by a mutation on folliculin gene, with a strong link to renal cancer. 30326848 2018
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 Biomarker disease BEFREE BHD-associated kidney cancer displays unique molecular characteristics that are completely different from sporadic kidney cancer, providing mechanistic insight into tumorigenesis under FLCN-deficiency as well as a foundation for development of novel therapeutics for kidney cancer. 29767721 2018
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 Biomarker disease BEFREE These findings may provide mechanistic insight into the role of FLCN in regulating kidney cell proliferation and facilitate the development of novel therapeutics for FLCN-deficient kidney cancer. 28007907 2017
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 Biomarker disease BEFREE These results indicate that SCFβ-TRCP negatively regulates the FLCN complex by promoting FNIP degradation and provide molecular insight into the pathogenesis of BHD-associated renal cancer. 28039480 2017
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 Biomarker disease BEFREE The folliculin gene (FLCN) that is responsible for Birt-Hogg-Dubé syndrome was isolated as a novel tumor suppressor for kidney cancer. 26608100 2016
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 GeneticVariation disease BEFREE Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer. 27258496 2016
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 Biomarker disease BEFREE A previous study has shown preferential toxicity of paclitaxel to FLCN-deficient kidney cancer cell line, UOK257. 24305604 2013
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 Biomarker disease BEFREE Folliculin (FLCN) is a tumor suppressor whose function is lost in Birt-Hogg-Dubé syndrome (BHD), a disorder characterized by renal cancer of multiple histological types including clear cell carcinoma, cutaneous fibrofolliculoma, and pneumothorax. 23922894 2013
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 GeneticVariation disease BEFREE A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. 23264078 2013
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 Biomarker disease BEFREE The identification of novel FLCN interacting proteins FNIP1 and FNIP2/L and their interaction with 5'-AMP activated protein kinase (AMPK) has provided a link between FLCN and the AMPK-mTOR axis and suggested molecular targets for therapeutic intervention to treat BHD kidney cancer and fibrofolliculomas. 23108783 2013
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 GeneticVariation disease BEFREE Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. 22977732 2012
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 GeneticVariation disease BEFREE Birt-Hogg-Dubé syndrome (BHDS), caused by germline mutations in the folliculin (FLCN) gene, predisposes individuals to develop fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and kidney cancer. 21412933 2011
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 GeneticVariation disease BEFREE Among 14 FLCN mutation carriers who developed renal cancer 7 were <50 years at onset and/or had multifocal/bilateral tumours. 22146830 2011
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 Biomarker disease BEFREE Two animal models and studies of renal cancers support a tumor-suppressor function for folliculin. 16825879 2006
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 Biomarker disease BEFREE Discovery of disease-causing mutations in BHD, a novel kidney cancer gene associated with renal oncocytoma or chromophobe renal cancer, will contribute to understanding the role of folliculin in pathways common to skin, lung, and kidney development. 12204536 2002
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 CausalMutation disease CGI
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.600 Biomarker disease GENOMICS_ENGLAND