DisGeNET - a database of gene-disease associations

CYB561D2, cytochrome b561 family member D2, 11068

N. diseases: 8; N. variants: 5

Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 ×

Variant: rs886037965 ×

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

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs886037965

Entrez Id:	10641;11068
Gene Symbol:	NPRL2;CYB561D2

NPRL2;CYB561D2

CUI:	C4310709
Disease:

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

0.800

GeneticVariation

UNIPROT

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.

27173016

2016

dbSNP:

rs886037965

Entrez Id:	10641;11068
Gene Symbol:	NPRL2;CYB561D2

NPRL2;CYB561D2

CUI:	C4310709
Disease:

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

0.800

GeneticVariation

UNIPROT

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

26505888

2016

dbSNP:

rs886037965

Entrez Id:	10641;11068
Gene Symbol:	NPRL2;CYB561D2

NPRL2;CYB561D2

CUI:	C4310709
Disease:

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2

0.800

CausalMutation

CLINVAR