DisGeNET - a database of gene-disease associations

DEPDC5, DEP domain containing 5, GATOR1 subcomplex subunit, 9681

N. diseases: 59; N. variants: 95

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:

rs1012068

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C0524910
Disease:

Hepatitis C, Chronic

0.800

GeneticVariation

GWASCAT

Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers.

21725309

2011

dbSNP:

rs1012068

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C0524910
Disease:

Hepatitis C, Chronic

0.800

GeneticVariation

GWASDB

Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers.

21725309

2011

dbSNP:

rs5994434

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C0021704
Disease:

Intelligence

0.800

GeneticVariation

GWASDB

Genome-wide association study of intelligence: additive effects of novel brain expressed genes.

22449649

2012

dbSNP:

rs5994434

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C0021704
Disease:

Intelligence

0.800

GeneticVariation

GWASCAT

Genome-wide association study of intelligence: additive effects of novel brain expressed genes.

22449649

2012

dbSNP:

rs1012068

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C2239176
Disease:

Liver carcinoma

0.760

GeneticVariation

BEFREE

In a Northern Italian discovery cohort (n = 477), neither DEPDC5 rs1012068 nor MICA rs2596542 were associated with HCC (n = 150).

26517016

2016

dbSNP:

rs1012068

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C2239176
Disease:

Liver carcinoma

0.760

GeneticVariation

BEFREE

Recently, two GWAS variants, MICA rs2596542 and DEPDC5 rs1012068 were identified as being associated with the development of HCV-induced hepatocellular carcinoma (HCC) in Japanese patients.

30723271

2019

dbSNP:

rs1012068

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C2239176
Disease:

Liver carcinoma

0.760

GeneticVariation

BEFREE

After controlling for the influence of sex, smoking and drinking, this study showed a significant relationship between the polymorphism of DEPDC5 rs1012068 and HBV-related HCC.

30683632

2019

dbSNP:

rs1012068

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C2239176
Disease:

Liver carcinoma

0.760

GeneticVariation

BEFREE

Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic HBV status, HBV natural clearance and the presence of HCC (P = 0.0004–0.024), respectively.

25032264

2014

dbSNP:

rs1012068

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C2239176
Disease:

Liver carcinoma

0.760

GeneticVariation

GWASDB

Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.

23242368

2013

dbSNP:

rs1012068

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C2239176
Disease:

Liver carcinoma

0.760

GeneticVariation

BEFREE

The data also revealed that subjects with the T allele of both SNPs appeared to have a lower susceptibility to HCV-related cirrhosis/HCC than those with the G allele of rs1012068 (p = 0.038, OR = 1.353, 95 % CI 1.017-1.800) and C allele of rs5998152 (p = 0.043, OR = 1.342, 95 % CI 1.010-1.784).

25551790

2014

dbSNP:

rs1012068

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C2239176
Disease:

Liver carcinoma

0.760

GeneticVariation

BEFREE

Recently, the MICA rs2596542 and DEPDC5 rs1012068 variants in Japanese individuals as well as the HCP5 rs2244546 and PNPLA3 rs738409 variants in European individuals have been found associated with hepatocellular carcinoma (HCC).

28928439

2017

dbSNP:

rs1012068

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C2239176
Disease:

Liver carcinoma

0.760

GeneticVariation

BEFREE

There was a significant correlation between DEPDC5 rs1012068A/C and HBV-related HCC in the Han Chinese population.

30683632

2019

dbSNP:

rs1060501487

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C1858477
Disease:

Epilepsy, Partial, with Variable Foci

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060501488

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C1858477
Disease:

Epilepsy, Partial, with Variable Foci

0.700

CausalMutation

CLINVAR

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

23542697

2013

dbSNP:

rs1060501488

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C1858477
Disease:

Epilepsy, Partial, with Variable Foci

0.700

CausalMutation

CLINVAR

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

26505888

2016

dbSNP:

rs112699334

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs1261611694

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C4551983
Disease:

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1

0.700

GeneticVariation

CLINVAR

Mutations of DEPDC5 cause autosomal dominant focal epilepsies.

23542701

2013

dbSNP:

rs1261611694

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C4551983
Disease:

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1

0.700

GeneticVariation

CLINVAR

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

23542697

2013

dbSNP:

rs1261611694

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C4551983
Disease:

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1

0.700

GeneticVariation

CLINVAR

Mutations of DEPDC5 cause autosomal dominant focal epilepsies.

23542701

2013

dbSNP:

rs1261611694

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C4551983
Disease:

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1

0.700

GeneticVariation

CLINVAR

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

23542697

2013

dbSNP:

rs1315483224

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C1858477
Disease:

Epilepsy, Partial, with Variable Foci

0.700

CausalMutation

CLINVAR

dbSNP:

rs136867

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.700

GeneticVariation

GWASCAT

Pilot genome-wide association study identifying novel risk loci for type 2 diabetes in a Maya population.

30130595

2018

dbSNP:

rs136872

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1372605067

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C0036572
Disease:

Seizures

0.700

CausalMutation

CLINVAR

dbSNP:

rs1383795440

Entrez Id:	9681
Gene Symbol:	DEPDC5

DEPDC5

CUI:	C0376532
Disease:

Epilepsy, Rolandic

0.700

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

29358611

2018