rs34957318, SFTPC;BMP1

N. diseases: 2
Disease: Bronchopulmonary Dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bronchopulmonary Dysplasia
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
0.010 GeneticVariation BEFREE We present an infant who was born premature at 23 weeks gestation with bronchopulmonary dysplasia and a SFTPC gene mutation, p.R167Q, who had a complicated neonatal course requiring 4 months of mechanical ventilation. 23775869 2014