SFTPC, surfactant protein C, 6440

N. diseases: 89; N. variants: 11
Disease: Bronchopulmonary Dysplasia ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34957318
rs34957318
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
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