Disease: MENTAL RETARDATION, X-LINKED 106 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4478379
Disease: MENTAL RETARDATION, X-LINKED 106
MENTAL RETARDATION, X-LINKED 106 		0.600 GeneticVariation disease UNIPROT Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability. 28584052 2017
CUI: C4478379
Disease: MENTAL RETARDATION, X-LINKED 106
MENTAL RETARDATION, X-LINKED 106 		0.600 CausalMutation disease CLINVAR Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability. 28584052 2017
CUI: C4478379
Disease: MENTAL RETARDATION, X-LINKED 106
MENTAL RETARDATION, X-LINKED 106 		0.600 GeneticVariation disease UNIPROT Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. 28302723 2017
CUI: C4478379
Disease: MENTAL RETARDATION, X-LINKED 106
MENTAL RETARDATION, X-LINKED 106 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability. 28584052 2017
CUI: C4478379
Disease: MENTAL RETARDATION, X-LINKED 106
MENTAL RETARDATION, X-LINKED 106 		0.600 GeneticVariation disease UNIPROT Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]. 26273451 2015