| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | GeneticVariation | CLINVAR | SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. | 30817854 | 2019 |
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0.100 | GeneticVariation | CLINVAR | A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. | 30125677 | 2019 |
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0.100 | GeneticVariation | CLINVAR | A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. | 30125677 | 2019 |
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0.100 | GeneticVariation | CLINVAR | Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. | 28213671 | 2017 |
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0.100 | GeneticVariation | CLINVAR | Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. | 28940898 | 2017 |
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0.100 | CausalMutation | CLINVAR | Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. | 20725928 | 2010 |
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0.100 | CausalMutation | CLINVAR | Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. | 20725928 | 2010 |
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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 | 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 | |||||||||||
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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 | CausalMutation | 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 | CausalMutation | CLINVAR | |||||||||||
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0.100 | CausalMutation | CLINVAR |