DisGeNET - a database of gene-disease associations

CYB561D2, cytochrome b561 family member D2, 11068

N. diseases: 8; N. variants: 5

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:

rs886037965

rs886037965

1.000

3

50349690

missense variant

A/G

snv

CUI:	C4310709
Disease:	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

0.800

1.000

2016

2016

dbSNP:

rs149128231

rs149128231

1.000

3

50348728

missense variant

C/G

snv

8.0E-05

1.3E-04

CUI:	C4310709
Disease:	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

0.700

1.000

2016

2016

dbSNP:

rs745518585

rs745518585

1.000

3

50348775

missense variant

G/T

snv

2.8E-05

1.4E-05

CUI:	C4310709
Disease:	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

0.700

dbSNP:

rs886037963

rs886037963

1.000

3

50350001

stop gained

G/A

snv

CUI:	C4310709
Disease:	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

0.700

dbSNP:

rs886037966

rs886037966

1.000

3

50350584

frameshift variant

GA/-

del

CUI:	C4310709
Disease:	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

0.700