Gene: UBE2A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 Biomarker disease BEFREE UBE2A deficiency is a syndromic condition of X-linked intellectual disability (ID) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, micropenis, and onychodystrophy. 29283210 2018
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 GeneticVariation disease CLINVAR A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923 2017
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 GeneticVariation disease CLINVAR An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. 24781758 2015
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 GeneticVariation disease CLINVAR UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. 25287747 2015
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 GeneticVariation disease CLINVAR Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. 23685073 2013
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 GeneticVariation disease CLINVAR X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514 2013
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 GeneticVariation disease CLINVAR UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. 21108393 2010
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 GeneticVariation disease CLINVAR Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. 20412111 2010
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 GeneticVariation disease CLINVAR UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393 2006