DisGeNET - a database of gene-disease associations

rs541024038, DEPDC5

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1

CUI:	C4551983
Disease:	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1

67

0.925

0.040

22

31843106

stop gained

C/G;T

snv

4.0E-06

0.700

1.000

2013

2016

Epilepsy, Partial, with Variable Foci

CUI:	C1858477
Disease:	Epilepsy, Partial, with Variable Foci

24

0.925

0.040

22

31843106

stop gained

C/G;T

snv

4.0E-06

0.010

1.000

2014

2014