Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Respiratory Distress Syndrome, Newborn
0.020 GeneticVariation disease BEFREE Individuals with PCD caused by mutations in <i>RSPH1</i> (radial spoke head 1 homolog) have been reported to have a milder phenotype than other individuals with PCD, as evidenced by a lower incidence of neonatal respiratory distress, higher nasal nitric oxide concentrations, and better lung function. 30896965 2019
Respiratory Distress Syndrome, Newborn
0.020 GeneticVariation disease BEFREE Additionally, individuals with RSPH1 mutations had a lower prevalence (8 of 16) of neonatal respiratory distress, and later onset of daily wet cough than typical for PCD, and better lung function (FEV1), compared with 75 age- and sex-matched PCD cases (73.0 vs. 61.8, FEV1 % predicted; P = 0.043). 24568568 2014