Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Respiratory Distress Syndrome, Newborn
0.500 Biomarker disease BEFREE Surfactant protein C (SP-C) is an important constituent of lung surfactant (LS) and, along with SP-B, is included in exogenous surfactant replacement therapies for treating respiratory distress syndrome (RDS). 30972750 2019
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE We aimed at investigating the association of surfactant protein B (SPB) gene 9306 A/G polymorphism (rs7316) with RDS development. 28738720 2018
Respiratory Distress Syndrome, Newborn
0.500 Biomarker disease BEFREE Decreased TTF1 expression, dysregulation of SPB and SPC transcription by TTF-1, and disordered proteolytic processing of Surfactant protein B precursor together potentially contribute to the disruption of surfactant homeostasis and NRDS in bovine clones. 29388718 2018
Respiratory Distress Syndrome, Newborn
0.500 Biomarker disease BEFREE CHF5633 is a new generation synthetic surfactant containing both SP-B and SP-C analogues developed for the treatment of respiratory distress syndrome. 27973472 2017
Respiratory Distress Syndrome, Newborn
0.500 Biomarker disease BEFREE Though natural surfactants (SF) are clinically superior to protein-free synthetic preparations, CHF-5633, a synthetic SF containing SP-B and SP-C analog peptides is a potential alternative to natural SF for treating neonatal respiratory distress syndrome (RDS). 28221717 2017
Respiratory Distress Syndrome, Newborn
0.500 Biomarker disease BEFREE A first-in-human clinical study of a new SP-B and SP-C enriched synthetic surfactant (CHF5633) in preterm babies with respiratory distress syndrome. 28465315 2017
Respiratory Distress Syndrome, Newborn
0.500 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
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE The aim of this study was to investigate whether specific SP-A and/or SP-B genetic variants are also associated with RDS in infants born late-preterm. 27835691 2016
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE There is a possible involvement of SP-A2 and SP-B genes polymorphisms in the genetic predisposition to respiratory distress syndrome. 26061924 2015
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE Mutations in exon 4 of the surfactant protein B gene demonstrate an association between homozygous mutations with C/C genotype in SP-B gene and neonatal RDS. 23330012 2013
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE The objectives of this study were to determine and compare the frequencies of SP-B gene polymorphisms in preterm babies with and without RDS. 21180884 2011
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE To examine genetic regulation, we used univariate and logistic regression analyses to detect associations between common SP-B (SFTPB) genotypes and SP-B peptides in the neonatal RDS cohort. 18776725 2009
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease 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
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE The objective of the present study was to compare the frequencies of SP-B gene polymorphisms between preterm babies with RDS and healthy term newborns. 17581675 2007
Respiratory Distress Syndrome, Newborn
0.500 Biomarker disease BEFREE The allelic variants of the genes encoding the surfactant proteins (SP) SP-A1, SP-A2, SP-B, and SP-C have been associated with RDS. 17127271 2007
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE Completely penetrant mutations in the surfactant protein B gene (SFTPB) and >75% reduction of SFTPB expression disrupt pulmonary surfactant function and cause neonatal respiratory distress syndrome. 17597650 2007
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE Our data provide evidence that ABCA3 mutations are associated not only with a deficiency of ABCA3 but also with an abnormal processing and routing of SP-B and SP-C, leading to severe alterations of surfactant homeostasis and respiratory distress syndrome. 16728712 2006
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE We wished to determine linkage between RDS and SP-B single nucleotide polymorphisms (SNPs) [-18 (A/C), 1013 (A/C), 1580 (C/T), and 9306 (A/G)] or SP-B-linked microsatellite [(D2S388, D2S2232, (AAGG)n, and GATA41E01 (or D2S1331)] loci and identify susceptibility or protective alleles and haplotypes. 16549540 2006
Respiratory Distress Syndrome, Newborn
0.500 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
Respiratory Distress Syndrome, Newborn
0.500 Biomarker disease BEFREE Surfaxin (lucinactant), a peptide-based surfactant consisting of dipalmitoylphosphatidylcholine (DPPC) plus KL(4) (sinapultide) (a synthetic peptide modeled after human surfactant protein-B), is effective in treating respiratory distress syndrome in preterm infants. 15633204 2005
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE No other SP polymorphisms associated with BPD, and the SP-B intron 4 variation did not associate with RDS. 15102713 2004
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE Specific alleles of the SP-A and SP-B genes associate interactively with susceptibility to respiratory distress syndrome. 12667827 2003
Respiratory Distress Syndrome, Newborn
0.500 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
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE However, the SP-B Ile131Thr polymorphism was associated with RDS. 12483294 2003
Respiratory Distress Syndrome, Newborn
0.500 GeneticVariation disease BEFREE Both SP-A and SP-B associate with susceptibility to RDS. 12537318 2002