Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation CLINVAR Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. 29321360

2017
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation CLINVAR Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome. 28854412

2017
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation CLINVAR In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes. 23220543

2013
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation CLINVAR In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes. 23220543

2013
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation CLINVAR Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. 20184732

2010
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation CLINVAR A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229

2010
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119

2009
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119

2009
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation CLINVAR Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184

2000
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation CLINVAR Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184

2000
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 GeneticVariation CLINVAR A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229

2010
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 CausalMutation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119

2009
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 CausalMutation CLINVAR Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184

2000
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 GeneticVariation CLINVAR

Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 CausalMutation CLINVAR

Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.100 CausalMutation CLINVAR

Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR

Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation CLINVAR

Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR