DYRK1A, dual specificity tyrosine phosphorylation regulated kinase 1A, 1859
N. diseases: 212; N. variants: 55
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.010 | GeneticVariation | BEFREE | They include the association of neuroticism with SNAP25 (rs362584, P=5 x 10(-5)), extraversion with BDNF and two cadherin genes (CDH13 and CDH23; Ps<5 x 10(-5)), openness with CNTNAP2 (rs10251794, P=3 x 10(-5)), agreeableness with CLOCK (rs6832769, P=9 x 10(-6)) and conscientiousness with DYRK1A (rs2835731, P=3 x 10(-5)). | 18957941 | 2010 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. | 21294719 | 2011 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. | 25167861 | 2014 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. | 23099646 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. | 21204217 | 2011 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A. | 19383720 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. | 2143053 | 1990 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. | 18405873 | 2008 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region. | 17237124 | 2007 |