UBE2A, ubiquitin conjugating enzyme E2 A, 7319

N. diseases: 96; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1556235551
rs1556235551 		1.000 X 119574923 missense variant G/A snv
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.800 1.000 2 2006 2010
dbSNP: rs387906728
rs387906728 		1.000 X 119574743 missense variant G/A snv
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.800 1.000 2 2006 2010
dbSNP: rs1556235119
rs1556235119 		1.000 X 119574712 start lost A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 8 2006 2017
dbSNP: rs1556235119
rs1556235119 		1.000 X 119574712 start lost A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2006 2017
dbSNP: rs1556235119
rs1556235119 		1.000 X 119574712 start lost A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 8 2006 2017
dbSNP: rs104894952
rs104894952 		1.000 X 119583178 stop gained C/T snv
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 0
dbSNP: rs1556244406
rs1556244406 		1.000 X 119583168 frameshift variant C/- delins
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 0
dbSNP: rs387906728
rs387906728 		1.000 X 119574743 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015