Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE It is of great interest in the future to investigate the alteration of O-GlcNAc in different cancers since addition/removal of O-GlcNAc on oncoproteins, tumor suppressor proteins, and other tumor-related proteins very likely plays a key role in the pathogenesis of tumors. 14533811 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE FSP06-specific CTL-clones killed peptide-sensitized target cells and tumor cell lines expressing both HLA-A0201 and mutant OGT proteins. 14601650 2003
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 Biomarker disease BEFREE More importantly, the decrease in O-GlcNAc correlated negatively with phosphorylation at most phosphorylation sites of tau protein, which is known to play a crucial role in the neurofibrillary degeneration of Alzheimer's disease. 19451179 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 AlteredExpression disease BEFREE Reduced levels of O-GlcNAc have been observed in AD, suggesting a possible link to deficits in synaptic plasticity. 20563614 2011
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 Biomarker disease BEFREE Such studies have questioned a causal link between O-GlcNAc and Type 2 diabetes, but do offer potential for the study, and perhaps the treatment, of tauopathies. 20863281 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 AlteredExpression disease BEFREE Gene expression of O-GlcNAc cycling enzymes in human breast cancers. 21567137 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE This result suggests that elevation in O-GlcNAc modification of proteins may be implicated in breast tumor progression and metastasis. 21567137 2012
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 Biomarker group BEFREE This result suggests that elevation in O-GlcNAc modification of proteins may be implicated in breast tumor progression and metastasis. 21567137 2012
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