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: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker disease CLINGEN UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism. 29283210 2018
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker disease CLINGEN A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923 2017
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker disease CLINGEN An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression. 26476408 2016
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker disease CLINGEN X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514 2013
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker disease CLINGEN Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. 23685073 2013
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 GeneticVariation disease UNIPROT Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. 20412111 2010
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker disease CLINGEN Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. 20412111 2010
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker disease CLINGEN UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393 2006
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 GermlineCausalMutation disease ORPHANET UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393 2006
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 GeneticVariation disease UNIPROT UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393 2006
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 GeneticVariation disease CLINVAR
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker disease CTD_human
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento. 31566921 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. 30531907 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 Biomarker group BEFREE Here, we describe two siblings with X-linked ID and typical clinical features of UBE2A deficiency caused by a novel hemizygous variant, identified by massively parallel sequencing of X-exome. 29283210 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE We propose that RAD6-KCMF1-UBR4 represents a unique new E2-E3 complex that targets unknown N-end rule substrates for lysosome-mediated degradation, and that disruption of this complex via RAD6A mutations could negatively affect neuronal function in XLID patients. 25582440 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE Intragenic mutations of the UBE2A gene, as well as larger deletions of Xq24 encompassing UBE2A have in recent years been associated with a syndromic form of X-linked intellectual disability called UBE2A deficiency syndrome or X-linked intellectual disability type Nascimento (OMIM#300860). 25287747 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 AlteredExpression group BEFREE Here, we report on overlapping microdeletions at Xq24 that do not include UBE2A or affect its expression, in patients with non-syndromic ID plus some additional features from three unrelated families. 23783460 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE We identified a series of patients with X-linked intellectual disability presenting mutations in the Rad6a (Ube2a) gene, which encodes for an E2 ubiquitin-conjugating enzyme. 23685073 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 Biomarker group HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.130 GeneticVariation disease BEFREE X-linked intellectual disability type Nascimento (XIDTN), caused by mutations in ubiquitin-conjugating enzyme E2A (UBE2A) gene, is characterized by moderate to severe intellectual disability, impaired speech, urogenital anomalies, skin abnormalities, and dysmorphic facial features. 31566921 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.130 Biomarker disease BEFREE Hitherto only five familial point mutations and four different deletions including UBE2A have been reported in the literature.We present eight additional individuals from five families with UBE2A associated ID - three males from a consanguineous family, in whom we identified a small deletion of only 7.1 kb encompassing the first three exons of UBE2A, two related males with a UBE2A missense mutation in exon 4, a patient with a de novo nonsense mutation in exon 6, and two sporadic males with larger deletions including UBE2A. 24053514 2013