EVC2, EvC ciliary complex subunit 2, 132884

N. diseases: 106; N. variants: 75
Disease: Chondrodysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.010 GeneticVariation disease BEFREE The gene encoding Evc2 is in close proximity in divergent orientation to Evc and mutations in both human genes lead to the chondrodysplasia Ellis-van Creveld syndrome. 21356043 2011