Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159948
rs724159948
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. 29034068 2017
dbSNP: rs724159948
rs724159948
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047 2017
dbSNP: rs724159953
rs724159953
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047 2017
dbSNP: rs780441716
rs780441716
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047 2017
dbSNP: rs1555984064
rs1555984064
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016
dbSNP: rs1555984461
rs1555984461
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		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: rs1555984461
rs1555984461
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		G 0.700 CausalMutation CLINVAR Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 27241786 2016
dbSNP: rs797044520
rs797044520
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs797045041
rs797045041
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		A 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs797045042
rs797045042
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		AG 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs1555985649
rs1555985649
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs1555985649
rs1555985649
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 GeneticVariation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
dbSNP: rs1569371303
rs1569371303
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		C 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs724159948
rs724159948
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
dbSNP: rs724159949
rs724159949
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
dbSNP: rs724159949
rs724159949
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs724159949
rs724159949
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR DYRK1A mutations in two unrelated patients. 25641759 2015
dbSNP: rs724159953
rs724159953
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
dbSNP: rs797044519
rs797044519
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs797044520
rs797044520
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs797044521
rs797044521
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs797044522
rs797044522
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs797044523
rs797044523
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		TA 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs797044524
rs797044524
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs797044525
rs797044525
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		G 0.700 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015