Gene: UBE2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556235119
rs1556235119
UBE2A
G 0.700 GeneticVariation CLINVAR A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923

2017
dbSNP: rs1556235119
rs1556235119
UBE2A
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
UBE2A
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
UBE2A
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
UBE2A
G 0.700 GeneticVariation CLINVAR X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514

2013
dbSNP: rs1556235119
rs1556235119
UBE2A
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
UBE2A
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
UBE2A
G 0.700 GeneticVariation CLINVAR UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393

2006