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: rs1553889992
rs1553889992
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. 20184732 2010
dbSNP: rs1553889992
rs1553889992
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