Gene: DYRK1A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398

2016
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
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
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 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
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398

2016
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557

2015
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557

2015
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome. 23512985

2013
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 0.700 CausalMutation CLINVAR Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome. 23512985

2013
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control. 22918246

2012
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. 23099646

2012
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 0.700 CausalMutation CLINVAR The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. 23099646

2012
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 0.700 CausalMutation CLINVAR Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control. 22918246

2012
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. 21204217

2011
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. 21294719

2011
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 0.700 CausalMutation CLINVAR Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. 21294719

2011
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 0.700 CausalMutation CLINVAR Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. 21204217

2011
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR Function and regulation of Dyrk1A: towards understanding Down syndrome. 19685005

2009
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A. 19383720

2009
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 0.700 CausalMutation CLINVAR Function and regulation of Dyrk1A: towards understanding Down syndrome. 19685005

2009
dbSNP: rs1555985642
rs1555985642
DYRK1A
A 0.700 CausalMutation CLINVAR Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A. 19383720

2009
dbSNP: rs1555984304
rs1555984304
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. 18405873

2008