DisGeNET - a database of gene-disease associations

UBA5, ubiquitin like modifier activating enzyme 5, 79876

N. diseases: 150; N. variants: 16

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

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:

rs114925667

rs114925667

0.672

0.520

3

132675903

missense variant

G/A;T

snv

1.9E-03; 4.1E-06

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.800

1.000

2016

2016

dbSNP:

rs532178791

rs532178791

1.000

3

132665830

start lost

A/G

snv

1.0E-04

1.4E-05

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.800

1.000

2016

2016

dbSNP:

rs886039759

rs886039759

1.000

3

132672143

missense variant

G/A

snv

4.0E-06

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.800

1.000

2016

2016

dbSNP:

rs886039760

rs886039760

1.000

3

132676476

missense variant

G/T

snv

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.800

1.000

2016

2016

dbSNP:

rs886039761

rs886039761

1.000

3

132670973

missense variant

G/A

snv

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.800

1.000

2016

2016

dbSNP:

rs774318611

rs774318611

1.000

3

132665825

missense variant

G/A

snv

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.800

dbSNP:

rs1553770577

rs1553770577

0.724

0.480

3

132675342

missense variant

T/C

snv

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.700

dbSNP:

rs374052333

rs374052333

0.763

0.320

3

132671032

stop gained

C/G;T

snv

4.0E-06

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.700

dbSNP:

rs745968949

rs745968949

1.000

3

132675290

stop gained

C/A;T

snv

4.0E-06

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.700

dbSNP:

rs772888455

rs772888455

1.000

3

132675345

missense variant

G/A

snv

4.0E-06

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.700

dbSNP:

rs886039756

rs886039756

1.000

3

132665842

stop gained

C/T

snv

7.0E-06

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.700

dbSNP:

rs886039757

rs886039757

1.000

3

132675339

stop gained

C/T

snv

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.700

dbSNP:

rs886039758

rs886039758

1.000

3

132675627

frameshift variant

-/C

ins

CUI:	C4310700
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44

0.700