Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
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0.100 | GeneticVariation | CLINVAR | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 30980518 | 2019 |
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0.100 | GeneticVariation | CLINVAR | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 30980518 | 2019 |
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0.100 | GeneticVariation | CLINVAR | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 30980518 | 2019 |
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0.100 | CausalMutation | CLINVAR | NAD Deficiency, Congenital Malformations, and Niacin Supplementation. | 28792876 | 2017 |
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0.100 | GeneticVariation | CLINVAR | Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. | 25256811 | 2014 |
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0.100 | GeneticVariation | CLINVAR | Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. | 23422942 | 2013 |
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | GeneticVariation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | GeneticVariation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | GeneticVariation | CLINVAR | |||||||||||
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0.100 | GeneticVariation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | GeneticVariation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | GeneticVariation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | GeneticVariation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR |