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: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549 2018
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184 2000