| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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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 | SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. | 28067909 | 2017 |
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0.100 | GeneticVariation | CLINVAR | Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. | 28807008 | 2017 |
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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 | 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 | 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 | 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 | GeneticVariation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR |