Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.800 | CausalMutation | CLINVAR | Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. | 30158690 | 2019 |
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0.800 | GeneticVariation | UNIPROT | Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. | 24124034 | 2013 |
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0.800 | GeneticVariation | UNIPROT | Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. | 20358602 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. | 20635401 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. | 18996922 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. | 19701948 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. | 17221863 | 2007 |
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|
T | 0.800 | CausalMutation | CLINVAR | Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. | 17273969 | 2007 |
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0.800 | GeneticVariation | UNIPROT | Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. | 17273969 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. | 16604071 | 2006 |