| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. | 28167679 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. | 25447906 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. | 23254390 | 2013 |
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|
A | 0.800 | CausalMutation | CLINVAR | High rate of mosaicism in individuals with Cornelia de Lange syndrome. | 23505322 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. | 21934712 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. | 20124326 | 2010 |
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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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|
A | 0.800 | CausalMutation | CLINVAR | NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. | 15318302 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. | 15146185 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. | 15146186 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. | 15318302 | 2004 |