Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431128
Disease: Papillary craniopharyngioma
Papillary craniopharyngioma
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
CUI: C0431128
Disease: Papillary craniopharyngioma
Papillary craniopharyngioma
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