Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia
0.020 GeneticVariation disease BEFREE PCP signalling disruption caused by Vangl2 (Vangl2<sup>Lp/+</sup>) or Celsr1 (Celsr1<sup>Crsh/+</sup>) mutations significantly reduced trabecular bone mass and distal tibial cortical thickness. 29463853 2018
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia
0.020 GeneticVariation disease BEFREE Since horizontal semi-circular canal defects lead to circling in other mutant mouse lines, we propose that this PCP phenotype is the cellular basis of the circling behavior in Celsr1 mutants. 28159525 2017