rs1553889992, EVC;CRMP1

N. diseases: 1
Disease: Ellis-Van Creveld Syndrome ×
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 CausalMutation CLINVAR Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. 20184732 2010
Ellis-Van Creveld Syndrome
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007