FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Disease: Cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010709
Disease: Cyst
Cyst 		0.330 GeneticVariation disease BEFREE In patients with RCC and pulmonary cysts but without cutaneous lesions, screening for mutations in the FLCN gene should be performed, especially for those with a family history of RCC or pulmonary cysts (pneumothorax). 28069055 2017
CUI: C0010709
Disease: Cyst
Cyst 		0.330 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: C0010709
Disease: Cyst
Cyst 		0.330 GeneticVariation disease BEFREE A rare mutation of the folliculin gene was detected in the patient and members with pulmonary cysts or pneumothorax, but no skin or renal lesions were found. 24346394 2014
CUI: C0010709
Disease: Cyst
Cyst 		0.330 GeneticVariation disease LHGDN Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. 17496196 2007