Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 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: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 AlteredExpression disease BEFREE Furthermore, Dyrk1a is upregulated in postmortem human brains, and high levels of Dyrk1a are associated with mental retardation. 28779511 2017
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease BEFREE It has been proposed that DYRK1A plays a prominent role in several biological functions, leading to mental retardation in DS patients. 23124096 2013
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease BEFREE While not genome-wide significant, the gene with the strongest association (p-value = 8.7×10(-5)) was DYRK1A, a gene previously related to abnormal brain development and mental retardation. 23077488 2012
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 AlteredExpression disease BEFREE The identification of hundreds of genes deregulated by DYRK1A overexpression and numerous cytosolic, cytoskeletal and nuclear proteins, including transcription factors, phosphorylated by DYRK1A, indicates that DYRK1A overexpression is central for the deregulation of multiple pathways in the developing and aging DS brain, with structural and functional alterations including mental retardation and dementia. 21156028 2011
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 AlteredExpression disease BEFREE Trisomy 21-linked Dyrk1A (dual-specificity tyrosine phosphorylation-regulated kinase 1A) overexpression is implicated in pathogenic mechanisms underlying mental retardation in Down syndrome (DS). 21135538 2010
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE The dual-specificity tyrosine(Y)-phosphorylation-regulated kinase 1A (Dyrk1A) gene is located on human chromosome 21 and encodes a proline-directed protein kinase that might be responsible for mental retardation and early onset of Alzheimer's disease (AD) in Down syndrome (DS) patients. 20456003 2010
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease BEFREE DYRK1A is a serine/threonine kinase that has been linked to mental retardation associated with Down syndrome. 19801542 2009
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 AlteredExpression disease BEFREE It also implies that overexpression of DYRK1A in DS may be potentially relevant to MR status of these individuals during their entire life span. 17145134 2007
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease BEFREE These alterations are comparable with those found in the partial trisomy chromosome 16 murine models of DS and suggest a causative role of DYRK1A in mental retardation and in motor anomalies of DS. 11555628 2001
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 AlteredExpression disease BEFREE Altered expression of the human MNB gene may be involved in the pathogenesis of certain phenotypes of Down syndrome, including mental retardation. 9048932 1997
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 CausalMutation disease CLINVAR