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
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.200 Biomarker phenotype RGD Cardiac O-GlcNAc signaling is increased in hypertrophy and heart failure. 22128088 2012
CUI: C0018801
Disease: Heart failure
Heart failure 		0.200 Biomarker disease RGD Cardiac O-GlcNAc signaling is increased in hypertrophy and heart failure. 22128088 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.200 Biomarker disease RGD Cardiac O-GlcNAc signaling is increased in hypertrophy and heart failure. 22128088 2012
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Therapeutic disease RGD Insulin stimulates and diabetes inhibits O-linked N-acetylglucosamine transferase and O-glycosylation of Sp1. 15561949 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE These data suggest a direct link between changes in the O-GlcNAcome and intellectual disability observed in patients carrying OGT mutations. 31627256 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group BEFREE Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability. 31296563 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group HPO
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.100 Biomarker phenotype HPO
CUI: C0241355
Disease: Small testicle
Small testicle 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.100 Biomarker disease HPO
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker phenotype HPO
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO