| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.120 | Biomarker | HPO | |||||||||||
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0.110 | CausalMutation | CLINVAR | A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. | 28017372 | 2017 |
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | GeneticVariation | CLINVAR | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
|
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.110 | Biomarker | HPO | |||||||||||
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0.100 | GeneticVariation | CLINVAR | Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. | 31134736 | 2019 |
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0.100 | GeneticVariation | CLINVAR | SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. | 30817854 | 2019 |
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0.100 | CausalMutation | CLINVAR | Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. | 27108799 | 2016 |
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0.100 | CausalMutation | CLINVAR | A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. | 26923739 | 2016 |
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0.100 | CausalMutation | CLINVAR | Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. | 27075689 | 2016 |
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0.100 | GeneticVariation | CLINVAR | De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. | 26637980 | 2015 |
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0.100 | CausalMutation | CLINVAR | Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. | 26350204 | 2015 |