| 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 | 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 | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 30980518 | 2019 |
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|
|
0.100 | CausalMutation | CLINVAR | Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. | 28288113 | 2017 |
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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 | Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. | 27668699 | 2017 |
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|
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0.100 | CausalMutation | 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 | |||||||||||
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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 | CausalMutation | CLINVAR | |||||||||||
|
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0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
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 | GeneticVariation | 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 | CausalMutation | CLINVAR |