present in Gene: UBE2A
present in Chromosome: X
Position on Chromosome: 119574712
Alleles of this Variant: A/G
rs1556235119 in
UBE2A gene and
Dysmorphic features
PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
PMID 23685073 2013 Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
PMID 28611923 2017 A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
PMID 24053514 2013 X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
PMID 21108393 2010 UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
PMID 16909393 2006 UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
PMID 25287747 2015 UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
PMID 20412111 2010 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
rs1556235119 in
UBE2A gene and
Muscle hypotonia
PMID 16909393 2006 UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
PMID 21108393 2010 UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
PMID 24053514 2013 X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
PMID 23685073 2013 Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
PMID 20412111 2010 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
PMID 28611923 2017 A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
PMID 25287747 2015 UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
rs1556235119 in
UBE2A gene and
Overgrowth
PMID 28611923 2017 A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
PMID 24053514 2013 X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
PMID 21108393 2010 UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
PMID 16909393 2006 UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
PMID 23685073 2013 Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
PMID 20412111 2010 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
PMID 25287747 2015 UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.