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 		0.030 GeneticVariation disease BEFREE Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation. 26149651 2015
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease BEFREE The somewhat mild phenotype (with no or slight mental retardation) in these two JBS families might be explained by residual UBR1 activity. 19006206 2008
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 Biomarker disease BEFREE Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). 16311597 2005