EVC, EvC ciliary complex subunit 1, 2121

N. diseases: 104; N. variants: 65
Disease: Weyers acrofacial dysostosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753014919
rs753014919
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0457013
Disease:
Weyers acrofacial dysostosis 		G 0.700 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543 2013
dbSNP: rs753014919
rs753014919
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0457013
Disease:
Weyers acrofacial dysostosis 		G 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007