FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Disease: Skin lesion ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.020 GeneticVariation group BEFREE Mutations in the renal tumour suppressor protein, folliculin, lead to proliferative skin lesions, lung complications and renal cell carcinoma. 22977732 2012
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.020 GeneticVariation group BEFREE Germline mutations in the folliculin (FLCN) gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS), a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothorax, and the development of renal neoplasias. 21162720 2010