UBE2A, ubiquitin conjugating enzyme E2 A, 7319

N. diseases: 96; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556235551
rs1556235551
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.800 GeneticVariation UNIPROT Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. 20412111 2010
dbSNP: rs387906728
rs387906728
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.800 GeneticVariation UNIPROT Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. 20412111 2010
dbSNP: rs1556235551
rs1556235551
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.800 GeneticVariation UNIPROT UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393 2006
dbSNP: rs387906728
rs387906728
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.800 GeneticVariation UNIPROT UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393 2006
dbSNP: rs1556235551
rs1556235551
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387906728
rs387906728
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923 2017
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923 2017
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923 2017
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. 24781758 2015
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. 25287747 2015
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. 24781758 2015
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. 24781758 2015
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. 25287747 2015
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. 25287747 2015
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514 2013
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. 23685073 2013
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. 23685073 2013
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514 2013
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. 23685073 2013
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514 2013
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. 20412111 2010
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. 21108393 2010
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. 20412111 2010
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. 20412111 2010