SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Disease: Respiratory Distress Syndrome, Newborn ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1124
rs1124
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn 		0.010 GeneticVariation BEFREE This is the first report of association of SFTPC rs1124 polymorphism with RDS development in Iranian newborns. 27884070 2017
dbSNP: rs370068089
rs370068089
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn 		0.010 GeneticVariation BEFREE We previously identified the c.435G>C variant in the SFTPC gene associated with fatal neonatal respiratory distress syndrome in an infant girl. 28295039 2017
dbSNP: rs121917834
rs121917834
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn 		0.010 GeneticVariation BEFREE The prevalence of the common mutations in the surfactant protein-B (121ins2), surfactant protein-C (I73T), and ATP-binding cassette member A3 (E292V) genes in population-based or case-control cohorts of newborn respiratory distress syndrome (RDS) is unknown. 18317237 2008