DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Seizures ×

Gene: DEPDC5 ×

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:

rs1372605067

DEPDC5

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

CausalMutation

CLINVAR

dbSNP:

rs1569232705

DEPDC5

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

CausalMutation

CLINVAR

dbSNP:

rs587776973

DEPDC5

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

CausalMutation

CLINVAR

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

26000329

2015

dbSNP:

rs587776973

DEPDC5

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

CausalMutation

CLINVAR

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

23542697

2013

dbSNP:

rs587776973

DEPDC5

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

CausalMutation

CLINVAR

Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.

23869883

2013

dbSNP:

rs886039261

DEPDC5

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

CausalMutation

CLINVAR

Epileptic spasms are a feature of DEPDC5 mTORopathy.

27066554

2015