UBE2A, ubiquitin conjugating enzyme E2 A, 7319

N. diseases: 96; N. variants: 5
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs387906728
rs387906728
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		A 0.800 CausalMutation CLINVAR