EVC2, EvC ciliary complex subunit 2, 132884

N. diseases: 106; N. variants: 75
Disease: Tooth Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		0.020 GeneticVariation group BEFREE This concept was further supported by the observation that dental mesenchymal-specific deletion of Evc2 phenocopied the tooth abnormalities in Evc2 mutants. 28081373 2017
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		0.020 Biomarker group BEFREE Both Evc and Evc2 proteins localize to the basal bodies of primary cilia and analysis of an Ellis-van Creveld mouse model, which includes the limb shortening and tooth abnormalities of EvC patients, has demonstrated Hedgehog signaling defects in the absence of Evc. 19876929 2009