Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556235551
rs1556235551
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 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. 20412111 2010
dbSNP: rs1556235551
rs1556235551
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
0.800 GeneticVariation UNIPROT UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393 2006
dbSNP: rs1556235551
rs1556235551
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
A 0.800 CausalMutation CLINVAR
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
dbSNP: rs104894952
rs104894952
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
T 0.700 CausalMutation CLINVAR
dbSNP: rs1556244406
rs1556244406
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
G 0.700 GeneticVariation CLINVAR