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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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. | 23160955 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. | 25707398 | 2016 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. | 26922654 | 2016 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. | 27241786 | 2016 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. | 25920557 | 2015 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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AT | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 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 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. | 29034068 | 2017 |