EVC, EvC ciliary complex subunit 1, 2121

N. diseases: 104; N. variants: 65
Disease: Ellis-Van Creveld Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation disease CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549 2018
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease CLINVAR Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. 29321360 2017
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation disease CLINVAR Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome. 28854412 2017
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease 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
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease BEFREE Of the Ellis van Creveld syndrome cases, 20/27 (74%) had a mutation in EVC and 7/27 (26%) in EVC2 genes. 23220543 2013
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation disease 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
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 Biomarker disease CLINGEN The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia. 23026747 2013
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GermlineCausalMutation disease ORPHANET 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
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GermlineCausalMutation disease ORPHANET Ciliary disorder of the skeleton. 22791528 2012
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease BEFREE Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. 21815252 2011
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. 21815252 2011
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation disease CLINVAR Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. 20184732 2010
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease CLINVAR A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229 2010
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GermlineCausalMutation disease ORPHANET A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229 2010
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease UNIPROT A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229 2010
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 Biomarker disease CLINGEN Mutations identified in a cohort of patients with atrioventricular septal defects as a part of Ellis van Creveld syndrome (EvC syndrome) led us to study the role of two non-homologous genes, EVC and LBN, in heart development and disease pathogenesis. 19251731 2009
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease BEFREE Mutations identified in a cohort of patients with atrioventricular septal defects as a part of Ellis van Creveld syndrome (EvC syndrome) led us to study the role of two non-homologous genes, EVC and LBN, in heart development and disease pathogenesis. 19251731 2009
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease BEFREE Of interest one EvC patient had a T>G nucleotide substitution in intron 7 of EVC (c.940-150T>G), which creates a new donor splice site and results in the inclusion of a new exon. 19810119 2009
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119 2009
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 CausalMutation disease CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119 2009
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease BEFREE Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. 18947413 2008
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease LHGDN Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. 18947413 2008
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease UNIPROT Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. 18947413 2008
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GermlineCausalMutation disease ORPHANET Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. 18947413 2008
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GeneticVariation disease CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007