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: rs548681312
rs548681312
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 CausalMutation CLINVAR Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. 26748586 2016
dbSNP: rs548681312
rs548681312
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 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