EVC, EvC ciliary complex subunit 1, 2121

N. diseases: 104; N. variants: 65
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: rs527255616
rs527255616
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		CT 0.700 CausalMutation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119 2009
dbSNP: rs527255616
rs527255616
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		CT 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007