Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE CONCLUSIONS SP-A (+186A/G) and SP-B (1580C/T) polymorphisms are strongly associated with the risk of RDS in preterm infants. 28011976 2016
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE Overall, the SP-A1 6A4 or/and SP-A2 1A5 haplotype was present in 20 newborns with RDS (35.7%), resulting in a 4.2-fold (1.60-11.0) higher probability of RDS in carriers. 27835691 2016
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE Homozygosity of SP-A (OR 46, 95% CI 14-151) and SP-B (OR 5.2, 95% CI 2.3-11.4) alleles increased the risk of respiratory distress syndrome. 26061924 2015
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE We have identified associations between specific variants of the SP-A genes and RDS risk in the Korean preterm study population. 23038062 2013
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE To determine whether haplotypes of SP-A and SP-D are transmitted disproportionately from parents to offspring with RDS, we hypothesized that previously unstudied genetic haplotypes of these SP genes are associated with the development of RDS. 17524024 2007
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease 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
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE Single-nucleotide polymorphisms (SNPs) in SP-A1 and SP-A2, genes encoding SP-A, have been associated with susceptibility to respiratory distress syndrome, COPD, and pulmonary infections. 16162765 2005
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 Biomarker disease BEFREE Surfactant protein (SP-A, -B, -C and -D) gene variations may play a role in both BPD and RDS. 15102713 2004
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE The SP-A 6A2 allele in the SP-B Thr131 background predisposed the smallest singleton infants to RDS, whereas near-term multiples were protected from RDS. 12947025 2003
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 Biomarker disease BEFREE The difference in RDS concordance rates between the monozygotic (MZ) and dizygotic (DZ) twin pairs as evidence of a genetic influence was evaluated, and the SP-A and SP-B genes were investigated for potential associations with the susceptibility to RDS. 12483294 2003
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE The main SP-A1 allele 6A2 (P = 0.030), genotype 6A2/6A2 (P = 0.0042) and haplotype 6A2-1A(0) (P = 0.016) were over-represented in healthy premature twin infants compared to RDS twins. 12952021 2003
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE Specific alleles of the SP-A and SP-B genes associate interactively with susceptibility to respiratory distress syndrome. 12667827 2003
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 Biomarker disease BEFREE Both SP-A and SP-B associate with susceptibility to RDS. 12537318 2002
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE Allelic variations of the SP-A and SP-B genes have been shown to be important genetic determinants in individual susceptibility to RDS, which is a good general model for a multifactorial pulmonary disease resulting from complex interactions between several environmental and genetic factors. 12452477 2002
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE The present family study provides strong support for a direct or indirect role of the SP-A alleles as genetic predisposers to RDS in premature infants. 11702216 2001
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE Among the infants born before 32 weeks of gestation and having the SP-B genotype Thr/Thr, the SP-A1 allele 6A(2) was over-represented in RDS group compared with controls (P = 0.001, OR = 4.7, CI 1.8-12.2). 11063734 2000
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE We show that certain SP-A1 alleles (6A2 and 6A3) and an SP-A1/SP-A2 haplotype (6A2/1A0) were associated with RDS. 10762543 2000
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE SP-A and SP-B polymorphisms are found at a higher frequency in certain groups of patients with respiratory distress syndrome (RDS), and SP-B mutations are linked to the pathogenesis of congenital alveolar proteinosis (CAP). 9558469 1998
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 GeneticVariation disease BEFREE Association of pulmonary surfactant protein A (SP-A) gene and respiratory distress syndrome: interaction with SP-B. 9475280 1998
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.100 AlteredExpression disease BEFREE Furthermore, one SP-A2 allele (1A0) shown to associate with low SP-A mRNA levels is found with higher frequency in a subgroup with respiratory distress syndrome. 9813381 1998