EVC2, EvC ciliary complex subunit 2, 132884

N. diseases: 106; N. variants: 75
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852926
rs137852926
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
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
dbSNP: rs137852926
rs137852926
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		0.800 GeneticVariation UNIPROT A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. 12468274 2002
dbSNP: rs137852926
rs137852926
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs137852924
rs137852924
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		0.710 GeneticVariation BEFREE Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. 23026208 2012
dbSNP: rs770918273
rs770918273
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		0.710 GeneticVariation BEFREE Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. 23026208 2012
dbSNP: rs770918273
rs770918273
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.710 GeneticVariation CLINVAR Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. 23026208 2012
dbSNP: rs137852924
rs137852924
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.710 CausalMutation CLINVAR Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum. 22190900 2011
dbSNP: rs137852924
rs137852924
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.710 CausalMutation CLINVAR Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling. 21199751 2010
dbSNP: rs140854723
rs140854723
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0026848
Disease:
Myopathy 		0.700 GeneticVariation GWASCAT Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink. 31220337 2019
dbSNP: rs186725382
rs186725382
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C2239222
Disease:
Vascular Endothelial Growth Factor Measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns. 31217265 2019
dbSNP: rs1553857801
rs1553857801
Entrez Id: 2121;132884
Gene Symbol: EVC;EVC2
EVC;EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 CausalMutation CLINVAR Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome. 28854412 2017
dbSNP: rs3774854
rs3774854
Entrez Id: 2121;132884
Gene Symbol: EVC;EVC2
EVC;EVC2
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.700 GeneticVariation GWASCAT Body mass index change in gastrointestinal cancer and chronic obstructive pulmonary disease is associated with Dedicator of Cytokinesis 1. 28044437 2017
dbSNP: rs3774854
rs3774854
Entrez Id: 2121;132884
Gene Symbol: EVC;EVC2
EVC;EVC2
CUI: C0151544
Disease:
Gastrointestinal carcinoma 		0.700 GeneticVariation GWASCAT Body mass index change in gastrointestinal cancer and chronic obstructive pulmonary disease is associated with Dedicator of Cytokinesis 1. 28044437 2017
dbSNP: rs146538906
rs146538906
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 CausalMutation CLINVAR We identified a novel pattern of germinal compound heterozygous nonsense EVC2 mutations of c.1814C > A (p. S605X) and c.2653C > T (p. R885X), leading to the diagnosis of EVC syndrome. 26818569 2016
dbSNP: rs1553850677
rs1553850677
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 GeneticVariation CLINVAR Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. 26748586 2016
dbSNP: rs548681312
rs548681312
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 CausalMutation CLINVAR Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. 26748586 2016
dbSNP: rs763363403
rs763363403
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 GeneticVariation CLINVAR Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. 26580685 2016
dbSNP: rs886037763
rs886037763
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		C 0.700 CausalMutation CLINVAR De novo mutations in autosomal recessive congenital malformations. 27280866 2016
dbSNP: rs886037764
rs886037764
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR De novo mutations in autosomal recessive congenital malformations. 27280866 2016
dbSNP: rs886037764
rs886037764
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 GeneticVariation CLINVAR De novo mutations in autosomal recessive congenital malformations. 27280866 2016
dbSNP: rs137852927
rs137852927
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs751356206
rs751356206
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs760382778
rs760382778
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs137852927
rs137852927
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543 2013
dbSNP: rs200300612
rs200300612
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		G 0.700 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543 2013