| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.300 | Biomarker | GENOMICS_ENGLAND | De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. | 30661772 | 2019 |
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0.300 | Biomarker | GENOMICS_ENGLAND | Small 4p16.3 deletions: Three additional patients and review of the literature. | 30244530 | 2018 |
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0.300 | Biomarker | GENOMICS_ENGLAND | Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability. | 25450604 | 2015 |
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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 | 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 type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. | 26220973 | 2015 |
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0.100 | CausalMutation | CLINVAR | Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . | 22290197 | 2012 |
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0.100 | CausalMutation | CLINVAR | Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . | 22290197 | 2012 |
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0.100 | CausalMutation | CLINVAR | Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. | 21620353 | 2011 |
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0.100 | CausalMutation | CLINVAR | A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. | 21440262 | 2011 |
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0.100 | CausalMutation | CLINVAR | Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. | 21620353 | 2011 |
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0.100 | CausalMutation | CLINVAR | A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. | 21440262 | 2011 |
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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 |