rs73198165, EVC2

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 Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings. 22406498 2012
Ellis-Van Creveld Syndrome
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
0.700 CausalMutation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119 2009