Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 Biomarker 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

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 GeneticVariation 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

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 Biomarker 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

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 Biomarker 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

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 Biomarker 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

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 GeneticVariation BEFREE Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer. 27258496

2016

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 Biomarker GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189

2016

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 AlteredExpression BEFREE Thus, several BHD symptoms may be due to abnormal levels of FLCN rather than its complete loss and accordingly, we show expression of mutant FLCN in a BHD-associated renal carcinoma. 23784378

2013

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 Biomarker 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

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 GeneticVariation BEFREE A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. 23264078

2013

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 Biomarker BEFREE A previous study has shown preferential toxicity of paclitaxel to FLCN-deficient kidney cancer cell line, UOK257. 24305604

2013

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 Biomarker 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

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 GeneticVariation BEFREE Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. 22977732

2012

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 GeneticVariation BEFREE Among 14 FLCN mutation carriers who developed renal cancer 7 were <50 years at onset and/or had multifocal/bilateral tumours. 22146830

2011

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 GeneticVariation 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

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 Biomarker 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

Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.600 CausalMutation CGI

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.400 GeneticVariation BEFREE None of these 372 patients with renal cancer carried the FH c.1431_1433dupAAA variant. 31444830

2020

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.400 GeneticVariation BEFREE Disease-free survival curves of Kif11 with different cancers and the relationships between Kif11 and the von Hippel-Lindau disease tumour suppressor gene (<i>VHL</i>), and proliferating cell nuclear antigen (PCNA) in kidney cancer were further analysed using the GEPIA database. 30819726

2019

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.400 GeneticVariation BEFREE We applied our approach to analyze hereditary leiomyomatosis and renal cell carcinoma (HLRCC), a type of kidney cancer that harbors fumarate hydratase (FH)-inactivating mutations and has elevated ROS levels. 31451050

2019

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.400 GeneticVariation BEFREE Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC). 28747166

2017

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.400 GeneticVariation BEFREE Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. 29267457

2017

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.400 GeneticVariation BEFREE Glycolysis and antioxidant pathways in kidney cancer are elevated, with frequent mutation of the VHL gene. 28408240

2017

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.400 Biomarker BEFREE Inactivation of the von Hippel-Lindau tumor suppressor protein (pVHL) is the signature lesion in the most common form of kidney cancer, clear cell renal cell carcinoma (ccRCC). pVHL loss causes the transcriptional activation of hypoxia-inducible factor (HIF) target genes, including many genes that encode histone lysine demethylases. 28701475

2017

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.400 Biomarker BEFREE Furthermore, complex indels display strong tissue specificity (such as VHL in kidney cancer samples and GATA3 in breast cancer samples). 26657142

2016