rs137852926, EVC2

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
0.800 GeneticVariation UNIPROT Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. 12571802 2003
Ellis-Van Creveld Syndrome
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
0.800 GeneticVariation UNIPROT A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. 12468274 2002
Ellis-Van Creveld Syndrome
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
0.800 CausalMutation CLINVAR