Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.700 | CausalMutation | CLINVAR | Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. | 29222009 | 2018 |
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G | 0.700 | CausalMutation | CLINVAR | Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. | 29021403 | 2018 |
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G | 0.700 | CausalMutation | CLINVAR | Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. | 28807008 | 2017 |
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G | 0.700 | CausalMutation | CLINVAR | Prevalence and architecture of de novo mutations in developmental disorders. | 28135719 | 2017 |
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G | 0.700 | CausalMutation | CLINVAR | Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. | 27479907 | 2016 |
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|
G | 0.700 | CausalMutation | CLINVAR | Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. | 25560765 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. | 26539891 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression. | 24999027 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. | 19344873 | 2009 |