Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
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
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
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