DisGeNET - a database of gene-disease associations

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1, C4551983

Variant: rs886039264 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs886039264

rs886039264

DEPDC5

C

0.700

CausalMutation

CLINVAR

Epileptic spasms are a feature of DEPDC5 mTORopathy.

2015