| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | CausalMutation | CLINVAR | Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. | 30267900 | 2019 |
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0.100 | GeneticVariation | CLINVAR | Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. | 27668699 | 2017 |
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0.100 | CausalMutation | CLINVAR | Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. | 27159400 | 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 | Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. | 16439621 | 2006 |
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0.100 | CausalMutation | CLINVAR | Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. | 16474404 | 2006 |
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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 | |||||||||||
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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 |