Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50947
Gene Symbol: BHD
BHD
0.030 GeneticVariation phenotype BEFREE Birt-Hogg-Dubé (BHD) syndrome is characterized by the development of pneumothorax, hair folliculomas and renal tumors and the responsible BHD gene is thought to be a tumor suppressor. 18663353 2008
Entrez Id: 50947
Gene Symbol: BHD
BHD
0.030 GeneticVariation phenotype BEFREE We found that germline mutations of the BHD gene are involved in some patients with multiple lung cysts and pneumothorax. 17496196 2007
Entrez Id: 50947
Gene Symbol: BHD
BHD
0.030 Biomarker phenotype BEFREE The odds ratio for pneumothorax in BHD-affected individuals, adjusted for age, was 50.3 (95% confidence interval, 6.4-392), and about 32 times higher adjusting for the other risk variables. 11927500 2002