EVC, EvC ciliary complex subunit 1, 2121
N. diseases: 104; N. variants: 65
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. | 29068549 | 2018 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. | 23220543 | 2013 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. | 19744229 | 2010 | ||||||
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CT | 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 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. | 17024374 | 2007 | ||||||
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CT | 0.700 | CausalMutation | CLINVAR | Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. | 17024374 | 2007 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. | 17024374 | 2007 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. | 10700184 | 2000 | ||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. | 10700184 | 2000 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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GCAGC | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR |