| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | GeneticVariation | CLINVAR | A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. | 30125677 | 2019 |
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0.100 | GeneticVariation | CLINVAR | A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. | 30125677 | 2019 |
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0.100 | GeneticVariation | CLINVAR | Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. | 28807008 | 2017 |
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0.100 | GeneticVariation | CLINVAR | Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. | 28942966 | 2017 |
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0.100 | CausalMutation | CLINVAR | Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. | 28288113 | 2017 |
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0.100 | CausalMutation | CLINVAR | Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. | 28942966 | 2017 |
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0.100 | CausalMutation | CLINVAR | De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. | 26637980 | 2015 |
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | GeneticVariation | CLINVAR | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO |