| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.120 | GeneticVariation | BEFREE | As previously reported for a spontaneous mouse mutant showing a mutation in Eml1, we observe severe cortical heterotopia in the KO. | 31173351 | 2019 |
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0.120 | GeneticVariation | BEFREE | Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. | 24859200 | 2014 |
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0.120 | Biomarker | HPO | |||||||||||
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0.110 | GeneticVariation | BEFREE | Here, we present a study of a mother-daughter pair who share bilateral widespread gray matter heterotopia caused by a novel mutation in FLNA and the same pattern of X-chromosome inactivation but who exhibit divergent reading and cognitive profiles. | 22740120 | 2012 |
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0.110 | Biomarker | HPO | |||||||||||
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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 | Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. | 26395554 | 2016 |
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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 | |||||||||||
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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 |