Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35953626
rs35953626
CRMP1 ; EVC
0.700 GeneticVariation UNIPROT A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229

2010
dbSNP: rs35953626
rs35953626
CRMP1 ; EVC
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
dbSNP: rs35953626
rs35953626
CRMP1 ; EVC
0.700 GeneticVariation UNIPROT Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184

2000