DisGeNET - a database of gene-disease associations

DYRK1A, dual specificity tyrosine phosphorylation regulated kinase 1A, 1859

N. diseases: 212; N. variants: 55

Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs724159948

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

28053047

2017

dbSNP:

rs724159948

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

25920557

2015

dbSNP:

rs724159949

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

25167861

2014

dbSNP:

rs724159949

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

25920557

2015

dbSNP:

rs724159949

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

25944381

2015

dbSNP:

rs724159949

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

DYRK1A mutations in two unrelated patients.

25641759

2015

dbSNP:

rs724159953

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

28053047

2017

dbSNP:

rs724159953

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

25920557

2015

dbSNP:

rs724159955

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

GeneticVariation

CLINVAR

dbSNP:

rs780441716

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

28053047

2017

dbSNP:

rs797044519

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

25944381

2015

dbSNP:

rs797044520

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

25944381

2015

dbSNP:

rs797044520

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

Molecular diagnostic experience of whole-exome sequencing in adult patients.

26633545

2016

dbSNP:

rs797044521

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

25944381

2015

dbSNP:

rs797044522

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

25944381

2015

dbSNP:

rs797044523

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

25944381

2015

dbSNP:

rs797044524

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

GeneticVariation

CLINVAR

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

25944381

2015

dbSNP:

rs797044525

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

GeneticVariation

CLINVAR

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

25944381

2015

dbSNP:

rs797044526

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

GeneticVariation

CLINVAR

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

25944381

2015

dbSNP:

rs797045041

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

GeneticVariation

CLINVAR

Molecular diagnostic experience of whole-exome sequencing in adult patients.

26633545

2016

dbSNP:

rs797045042

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

Molecular diagnostic experience of whole-exome sequencing in adult patients.

26633545

2016

dbSNP:

rs797045539

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR

dbSNP:

rs797045540

Entrez Id:	1859;105372797
Gene Symbol:	DYRK1A;LOC105372797

DYRK1A;LOC105372797

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

GeneticVariation

CLINVAR

dbSNP:

rs869312708

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C3279839
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

0.700

CausalMutation

CLINVAR