Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.110 CausalMutation phenotype CLINVAR
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.110 AlteredExpression phenotype BEFREE This finding indicates an upward regulatory role of DYRK1A expression on BDNF levels in lymphoblastoid cell lines and emphasizes the role of genetic variants associated with psychiatric disorders. 22669612 2012
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		0.100 Biomarker phenotype HPO
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		0.010 AlteredExpression phenotype BEFREE Small molecule inhibition of DYRK1A activity in the brain may provide an avenue for pharmaceutical intervention of mental impairment associated with AD and other neurodegenerative diseases. 23173067 2012
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		0.100 CausalMutation disease CLINVAR
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		0.100 CausalMutation disease CLINVAR
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.100 CausalMutation phenotype CLINVAR
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.100 Biomarker phenotype HPO
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		0.100 CausalMutation phenotype CLINVAR
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		0.100 CausalMutation phenotype CLINVAR
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.010 GeneticVariation disease BEFREE In the present study, we report 10 unrelated individuals with DYRK1A-associated intellectual disability (ID) who display a recurrent pattern of clinical manifestations including primary or acquired microcephaly, ID ranging from mild to severe, speech delay or absence, seizures, autism, motor delay, deep-set eyes, poor feeding and poor weight gain. 25920557 2015
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.010 GeneticVariation phenotype BEFREE In the present study, we report 10 unrelated individuals with DYRK1A-associated intellectual disability (ID) who display a recurrent pattern of clinical manifestations including primary or acquired microcephaly, ID ranging from mild to severe, speech delay or absence, seizures, autism, motor delay, deep-set eyes, poor feeding and poor weight gain. 25920557 2015
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		0.100 CausalMutation phenotype CLINVAR
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation phenotype CLINVAR
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		0.020 Biomarker disease BEFREE Increased dosage of the chromosome 21 ortholog Dyrk1a promotes megakaryoblastic leukemia in a murine model of Down syndrome. 22354171 2012
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		0.020 AlteredExpression disease BEFREE In this issue of the JCI, Malinge et al. report their loss- and gain-of-function experiments in mouse and human cells that show that increased expression of the kinase encoded by the chromosome 21 gene DYRK1A suppresses the nuclear factor of activated T cells pathway and promotes AMKL. 22354166 2012
CUI: C4528668
Disease: Acute myeloid leukaemia refractory
Acute myeloid leukaemia refractory 		0.010 AlteredExpression disease BEFREE DYRK1A also had significantly lower expression in relapsed/refractory AML patients, comparing to newly-diagnosed AML patients, which indicated the role of DYRK1A in chemoresistance of AML. 24901999 2014
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 Biomarker disease BEFREE Inhibition of DYRK1A destabilizes EGFR and reduces EGFR-dependent glioblastoma growth. 23635774 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 AlteredExpression disease BEFREE Higher DYRK1A expression correlates with cancer, in particular glioblastoma present within the brain. 30401502 2018
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.010 Biomarker disease BEFREE Finally, because DYRK1A and CIC exhibit, respectively, prooncogenic vs. tumor suppressor activities in human oligodendroglioma, our results raise the possibility that DYRK1A may also down-regulate CIC in human cells. 27601662 2016
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 PosttranslationalModification disease BEFREE Our result indicates that DYRK1A could be a key molecule bridging between beta-amyloid production and tau phosphorylation in AD. 17135279 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease BEFREE In this study, we aimed to investigate the role of dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), which is one of the most important regulators of Alzheimer's disease development, in islet β cell dysfunction and apoptosis. 31306739 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Dyrk1A is found in sarkosyl-insoluble fractions which are enriched in phosphorylated tau in AD brains, thus suggesting a possible association of Dyrk1A with neurofibrillary tangle pathology. 16242644 2005