rs80338682, MPRIP;FLCN

N. diseases: 3
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PNEUMOTHORAX, PRIMARY SPONTANEOUS
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
0.700 CausalMutation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235 2005
PNEUMOTHORAX, PRIMARY SPONTANEOUS
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
0.700 CausalMutation CLINVAR Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. 12204536 2002