Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.600 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
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
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
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
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.600 GeneticVariation disease CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE Autosomal dominant mental retardation-7 (MRD7) is a rare anomaly, characterized by severe intellectual disability, feeding difficulties, behavior abnormalities, and distinctive facial features, including microcephaly, deep-set eyes, large simple ears, and a pointed or bulbous nasal tip. 31803247 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrome characterized by microcephaly, developmental delay and intellectual disability (ID) as well as characteristic facial features. 26922654 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE In the present study, we show that truncating mutations of DYRK1A result in a clinical phenotype including microcephaly. 18405873 2008
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE Human DYRK1A lies in the Down syndrome critical region on chromosome 21, and heterozygous mutations in the gene cause microcephaly and neurological dysfunction. 24922073 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE The extreme degree of microcephaly in this patient may be ascribed to the haploinsufficiency of DYRK1A, since brain size is severely reduced in heterozygotes for the Dyrk1a null mutation in mice. 20358607 2010
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE Mutations and copy number variants affecting DYRK1A gene encoding the dual-specificity tyrosine phosphorylation-regulated kinase 1A are among the most frequent genetic causes of neurodevelopmental disorders including autism spectrum disorder (ASD) associated with microcephaly, febrile seizures and severe speech acquisition delay. 29223763 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease LHGDN Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. 18405873 2008
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 GeneticVariation group BEFREE Mutations and copy number variants affecting DYRK1A gene encoding the dual-specificity tyrosine phosphorylation-regulated kinase 1A are among the most frequent genetic causes of neurodevelopmental disorders including autism spectrum disorder (ASD) associated with microcephaly, febrile seizures and severe speech acquisition delay. 29223763 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.310 GeneticVariation disease BEFREE Because four patients previously reported with intragenic DYRK1A rearrangements or 21q22 microdeletions including only DYRK1A presented with overlapping phenotypes, we hypothesised that DYRK1A mutations could be responsible for syndromic ID with severe microcephaly and epilepsy. 23099646 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease BEFREE Mutations in DYRK1A underlie a spectrum of human developmental disorders, and increased dosage in trisomy 21 is implicated in Down syndrome related pathologies. 31024071 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease LHGDN In human, DYRK1A encodes a serine-threonine kinase but despite its potential involvement in the neurobiological alterations associated with Down syndrome, its physiological function has not yet been defined. 15694837 2005
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease BEFREE However, our patient is the first patient with Down syndrome whose clinical findings were provided in detail, with a de novo derivative chromosome 21 resulting from multiple chromosome breaks excluding DYRK1A and DSCR1 gene regions. 22827956 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease BEFREE The duplication encompasses the gene DYRK1 but not DSCR1 or DSCAM, all of which have previously been implicated in the causation of DS. 17237124 2007
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease BEFREE On the one hand, its overexpression in trisomy 21 has been linked to certain pathological traits of Down syndrome, while on the other, inactivating mutations in just one allele are responsible for a distinct yet rare clinical syndrome, DYRK1A haploinsufficiency. 30979931 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease BEFREE Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is thought to have a major role in the neurocognitive deficits associated with Trisomy 21. 25707398 2016
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease BEFREE Increased dosage of DYRK1A and brain volumetric alterations in a YAC model of partial trisomy 21. 18231969 2008
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease BEFREE The information provided here should be valuable for MNBH mutation studies and aid in the development of DS animal models. 10329007 1999
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease BEFREE Our data demonstrate for the first time the implication of DYRK1A overexpression in a developmental alteration of the central nervous system associated with DS, thereby providing insights into the aetiology of neurosensorial dysfunction in a complex disease. 23512985 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease BEFREE Recently, de novo pathogenic mutations in DYRK1A, a chromosome 21 gene associated to neuropathological traits of Down syndrome, have been identified in patients presenting a recognizable syndrome included in the autism spectrum. 30831192 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease BEFREE We also summarize the evidence behind the hypotheses to explain how the imbalance in MNB/DYRK1A gene dosage might be implicated in the neurodevelopmental alterations associated with Down syndrome. 21156027 2011
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 GeneticVariation disease BEFREE The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autism. 25920557 2015