Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 CausalMutation disease CLINVAR Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. 29034068 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 CausalMutation disease CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 CausalMutation disease CLINVAR Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 27241786 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 CausalMutation disease CLINVAR Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. 26922654 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 CausalMutation disease CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 GeneticVariation disease CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 GeneticVariation disease CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 Biomarker disease GENOMICS_ENGLAND DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 Biomarker disease GENOMICS_ENGLAND DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 CausalMutation disease CLINVAR DYRK1A mutations in two unrelated patients. 25641759 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 CausalMutation disease CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 GeneticVariation disease CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 CausalMutation disease CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 CausalMutation disease CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 CausalMutation disease CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 Biomarker disease GENOMICS_ENGLAND The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. 23099646 2012
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.600 Biomarker disease CTD_human