UBE2A, ubiquitin conjugating enzyme E2 A, 7319

N. diseases: 96; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C1849265
Disease:
Overgrowth 		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
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393 2006
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393 2006
dbSNP: rs1556235119
rs1556235119
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 16909393 2006
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
dbSNP: rs387906728
rs387906728
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Notably, we also find that two different RAD6A point mutants (R7W and R11Q) found in X-linked intellectual disability (XLID) patients specifically lose the interaction with KCMF1 and UBR4, but not with other previously identified RAD6 interactors. 25582440 2015