Disease Term Disease ID Gene Symbol Classification References Source
Familial spontaneous pneumothorax 2903 FLCN Causal Pathogenic evidence from ClinVar - ClinVar
Spontaneous pneumothorax C0149781 FLCN Causal Pathogenic evidence from ClinVar 12204536, 19483054 ClinVar
COL3A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DNAH11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FBN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TGFBR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -