rs35953626, CRMP1;EVC

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ellis-Van Creveld Syndrome
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
0.700 GeneticVariation UNIPROT A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229 2010
Ellis-Van Creveld Syndrome
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
0.700 GeneticVariation UNIPROT Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. 18947413 2008
Ellis-Van Creveld Syndrome
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
0.700 GeneticVariation UNIPROT Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184 2000