UBE2A, ubiquitin conjugating enzyme E2 A, 7319

N. diseases: 96; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 AlteredExpression disease BEFREE Low CDR1as level can lead to increase in miR-7 expression which downregulates the activity of ubiquitin protein ligase A (UBE2A), an important AD target, functionally involved in clearing toxic amyloid peptides from AD brain. 30259371 2019
CUI: C0025202
Disease: melanoma
melanoma 		0.010 Biomarker disease BEFREE While both genes are weakly expressed in normal melanocytes, Rad6B is more robustly expressed in melanoma lines and patient-derived metastatic melanomas than RAD6A. 31683936 2019
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.010 GeneticVariation disease BEFREE We report a novel pathogenic mutation in the E2 UBE2A, identified in two brothers with mild intellectual disability. 30531907 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE Further exploration of the involvement of UBE2A in HCC development may provide novel therapeutic targets. 29725449 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 GeneticVariation group BEFREE Analyses of the phenotype-genotype correlations suggest considerable prevalence of heart defects in the group of patients with larger deletions of Xq24 in comparison to the patients having intragenic UBE2A mutations. 25287747 2015
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.010 GeneticVariation group BEFREE X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, depressed nasal bridge, prominent columella, hypoplastic alae nasi, and macrostomia), skin anomalies (hirsutism, myxedematous appearance, onychodystrophy), micropenis, moderate to severe intellectual disability (ID), motor delay, impaired/absent speech, and seizures. 24053514 2013
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 Biomarker disease BEFREE By using an in-house bacterial artificial chromosome-based X-tilling array, we detected a 0.4 Mb novel deletion at Xq24 that included UBE2A in a 4-year-old and 10-month-old boy with mental retardation and various other characteristics inherited from his mother; for example, marked developmental delay, synophrys, ocular hypertelorism, esotropia, low nasal bridge, marked generalized hirsutism and seizure. 20339384 2010
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.010 Biomarker group BEFREE Because some characteristics, such as congenital heart disease and proximal placement of the thumb, were not described in the family reported previously, suggesting genes other than UBE2A within the deleted region to be responsible for those abnormalities. 20339384 2010
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 Biomarker phenotype BEFREE By using an in-house bacterial artificial chromosome-based X-tilling array, we detected a 0.4 Mb novel deletion at Xq24 that included UBE2A in a 4-year-old and 10-month-old boy with mental retardation and various other characteristics inherited from his mother; for example, marked developmental delay, synophrys, ocular hypertelorism, esotropia, low nasal bridge, marked generalized hirsutism and seizure. 20339384 2010
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 Biomarker disease BEFREE By using an in-house bacterial artificial chromosome-based X-tilling array, we detected a 0.4 Mb novel deletion at Xq24 that included UBE2A in a 4-year-old and 10-month-old boy with mental retardation and various other characteristics inherited from his mother; for example, marked developmental delay, synophrys, ocular hypertelorism, esotropia, low nasal bridge, marked generalized hirsutism and seizure. 20339384 2010
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.020 Biomarker disease BEFREE UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. 25287747 2015
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.020 GeneticVariation disease BEFREE Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. 21108393 2010
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.030 GeneticVariation disease BEFREE Although additional nine transcripts around UBE2A were also defective, a phenotypic similarity with a recently reported X-linked familial case involving a novel X-linked mental retardation syndrome and a nonsense mutation of UBE2A indicates a functional defect of UBE2A to be responsible for most of the abnormalities in these cases. 20339384 2010
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.030 GeneticVariation disease BEFREE Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. 20412111 2010
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.030 GeneticVariation disease BEFREE UBE2A mutations do not appear to significantly contribute to XLMR, since no UBE2A mutations were identified in 15 families with nonsyndromic and 4 families with syndromic idiopathic XLMR previously mapped to intervals encompassing this gene. 16909393 2006
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. 24781758 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. 25287747 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. 24781758 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. 25287747 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. 23685073 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. 23685073 2013