EVC2, EvC ciliary complex subunit 2, 132884

N. diseases: 106; N. variants: 75
Disease: Ellis-Van Creveld Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852927
rs137852927
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs137852927
rs137852927
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543 2013
dbSNP: rs137852927
rs137852927
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 CausalMutation CLINVAR Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. 19876929 2009
dbSNP: rs137852927
rs137852927
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 CausalMutation CLINVAR A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. 12468274 2002