FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Disease: Renal cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.130 GeneticVariation phenotype BEFREE Here we describe an FLCN mutation in a 55-year-old patient who presented himself with progressive weight loss, bilateral kidney cysts and renal tumors. 28499369 2017
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.130 GeneticVariation phenotype BEFREE Heterozygous Flcn knockout mice and rats with Flcn gene mutations develop renal cysts, adenomas and/or carcinomas. 23223565 2013
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.130 Biomarker phenotype BEFREE Conversely, p-S6 is found to be elevated or absent in FLCN-negative renal cysts. 19843504 2010
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.130 Biomarker phenotype HPO