Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 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: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome. 23512985 2013
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control. 22918246 2012
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. 23099646 2012
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. 21204217 2011
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. 21294719 2011
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A. 19383720 2009
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Function and regulation of Dyrk1A: towards understanding Down syndrome. 19685005 2009
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. 18405873 2008
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 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
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region. 17237124 2007
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 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
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. 12192061 2002
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. 2143053 1990