Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.010 GeneticVariation phenotype BEFREE Our results on the Tommy mutation along with previously observed interactions between cadherin-23 and PMCA2 mutations in mouse and humans underline the importance of maintaining the appropriate calcium concentrations in the endolymph to control the rigidity of cadherin and ensure the function of interstereocilia links, including tip links, of the stereocilia bundle. 20826782 2010