SFTPA1, surfactant protein A1, 653509

N. diseases: 139; N. variants: 11
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: rs1322403577
rs1322403577
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn 		0.030 GeneticVariation BEFREE The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. 17142161 2006
dbSNP: rs1322403577
rs1322403577
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn 		0.030 GeneticVariation BEFREE An association between the SP-B Ile131Thr polymorphism and RDS was found. 12483294 2003
dbSNP: rs1322403577
rs1322403577
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn 		0.030 GeneticVariation BEFREE We propose that the SP-B Ile131Thr polymorphism is a determinant for certain SP-A alleles as factors causing genetic susceptibility to RDS (6A(2), 1A(0)) or protection against it (6A(3), 1A(2)). 11063734 2000