Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker CLINGEN UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism. 29283210

2018
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker CLINGEN A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923

2017
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker CLINGEN An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression. 26476408

2016
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker CLINGEN X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514

2013
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker CLINGEN Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. 23685073

2013
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker CLINGEN 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
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker CLINGEN UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393

2006