| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. | 21204217 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. | 18405873 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A. | 19383720 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. | 25944381 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation. | 12814361 | 2003 |
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|
A | 0.700 | CausalMutation | CLINVAR | Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. | 12192061 | 2002 |
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|
A | 0.700 | CausalMutation | CLINVAR | Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region. | 17237124 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control. | 22918246 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development. | 18364031 | 2008 |
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|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. | 25707398 | 2016 |