rs121917835, BMP1;SFTPC

N. diseases: 3
Source: ALL
Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.700 CausalMutation CLINVAR Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. 11991887 2002
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.700 CausalMutation CLINVAR Familial fibrocystic pulmonary dysplasia: a new case in a known affected family. 5942662 1966
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.700 CausalMutation CLINVAR Familial fibrocystic pulmonary dysplasia and its relation to Hamman-Rich syndrome. 13817571 1959
Pneumonia, Interstitial
CUI: C0206061
Disease: Pneumonia, Interstitial
0.010 GeneticVariation BEFREE We evaluated biopsies from 23 IPF patients (including 3 family members with L188Q SFTPC mutations, 10 individuals with familial interstitial pneumonia without SFTPC mutations, and 10 individuals with sporadic IPF) and sections from 10 control lungs. 18390830 2008
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
0.010 GeneticVariation BEFREE We evaluated biopsies from 23 IPF patients (including 3 family members with L188Q SFTPC mutations, 10 individuals with familial interstitial pneumonia without SFTPC mutations, and 10 individuals with sporadic IPF) and sections from 10 control lungs. 18390830 2008