DisGeNET - a database of gene-disease associations

PRKDC, protein kinase, DNA-activated, catalytic subunit, 5591

N. diseases: 131; N. variants: 18

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:

rs587777686

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C4014833
Disease:

IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

0.800

GeneticVariation

UNIPROT

PRKDC mutations in a SCID patient with profound neurological abnormalities.

23722905

2013

dbSNP:

rs587777686

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C4014833
Disease:

IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

0.800

GeneticVariation

UNIPROT

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

19075392

2009

dbSNP:

rs587777686

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C4014833
Disease:

IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

0.800

CausalMutation

CLINVAR

dbSNP:

rs7003908

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0021603
Disease:

Sleep Initiation and Maintenance Disorders

0.700

GeneticVariation

GWASCAT

Genome-wide analysis of insomnia disorder.

29520036

2018

dbSNP:

rs587777685

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C4014833
Disease:

IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

0.700

GeneticVariation

UNIPROT

PRKDC mutations in a SCID patient with profound neurological abnormalities.

23722905

2013

dbSNP:

rs10504062

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs10504062

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs10504062

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0202236
Disease:

Triglycerides measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs587777685

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C4014833
Disease:

IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

0.700

GeneticVariation

UNIPROT

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

19075392

2009

dbSNP:

rs1563829725

Entrez Id:	4173;5591
Gene Symbol:	MCM4;PRKDC

MCM4;PRKDC

CUI:	C1864947
Disease:

Natural Killer Cell Deficiency, Familial Isolated

0.700

CausalMutation

CLINVAR

dbSNP:

rs546905091

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C4014833
Disease:

IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

0.700

CausalMutation

CLINVAR

dbSNP:

rs55735910

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0278883
Disease:

Metastatic melanoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs587777685

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C4016698
Disease:

IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES

0.700

CausalMutation

CLINVAR

dbSNP:

rs758032015

Entrez Id:	5591;105375818
Gene Symbol:	PRKDC;LOC105375818

PRKDC;LOC105375818

CUI:	C0152013
Disease:

Adenocarcinoma of lung (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs781401034

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C1319315
Disease:

Adenocarcinoma of large intestine

0.700

GeneticVariation

UNIPROT

dbSNP:

rs7003908

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0376358
Disease:

Malignant neoplasm of prostate

0.020

GeneticVariation

BEFREE

In summary, the current meta-analysis confirmed that the rs7003908 polymorphism in the XRCC7 gene might be a risk factor for prostate cancer.

24535266

2014

dbSNP:

rs7003908

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0600139
Disease:

Prostate carcinoma

0.020

GeneticVariation

BEFREE

In summary, the current meta-analysis confirmed that the rs7003908 polymorphism in the XRCC7 gene might be a risk factor for prostate cancer.

24535266

2014

dbSNP:

rs7003908

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0376358
Disease:

Malignant neoplasm of prostate

0.020

GeneticVariation

BEFREE

This meta-analysis suggests that XRCC7 rs7003908 polymorphism may contribute to cancer susceptibility for prostate cancer, which is recommended to be included in future large-sample studies and functional assays.

23108991

2013

dbSNP:

rs7003908

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0600139
Disease:

Prostate carcinoma

0.020

GeneticVariation

BEFREE

23108991

2013

dbSNP:

rs12334811

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0007137
Disease:

Squamous cell carcinoma

0.010

GeneticVariation

BEFREE

In general, the "good" genotype GG (rs12334811) showed greater efficacy of radio-chemotherapy and MSF (24 months) on SCC.

27246533

2016

dbSNP:

rs2305952

Entrez Id:	4173;5591
Gene Symbol:	MCM4;PRKDC

MCM4;PRKDC

CUI:	C2239176
Disease:

Liver carcinoma

0.010

GeneticVariation

BEFREE

The HCC risk was lower in patients with the MCM4 rs2305952 CC (OR = 0.22, 95%CI: 0.08-0.63, P = 0.01) and with the CHEK1 rs515255 TC, TT, TC/TT (OR = 0.73, 95%CI: 0.56-0.96, P = 0.02; OR = 0.67, 95%CI: 0.46-0.97, P = 0.04; OR = 0.72, 95%CI: 0.56-0.92, P = 0.01, respectively).

27350734

2016

dbSNP:

rs7003908

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0279626
Disease:

Squamous cell carcinoma of esophagus

0.010

GeneticVariation

BEFREE

A significantly different distribution was found in the frequency of PRKDC (rs7003908) genotype between the ESCC group and controls.

26166223

2016

dbSNP:

rs7003908

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0017638
Disease:

Glioma

0.010

GeneticVariation

BEFREE

These results suggest that IL-10 rs1800871 and PRKDC rs7003908 may be useful biomarkers for predicting glioma patient outcome.

27811370

2016

dbSNP:

rs8178085

Entrez Id:	5591
Gene Symbol:	PRKDC

PRKDC

CUI:	C0007137
Disease:

Squamous cell carcinoma

0.010

GeneticVariation

BEFREE

In squamous cell carcinoma (SCC), as the rs2228000, rs2228001 (XPC), rs2273953 (TP73), rs2279744 (MDM2), rs2299939 (PTEN) and rs8178085, rs12334811 (DNA-PKcs) affected the sensitivity to chemotherapy, so did the rs8178085, rs12334811 to radiotherapy.

27246533

2016

dbSNP:

rs1372047743

Entrez Id:	4173;5591
Gene Symbol:	MCM4;PRKDC

MCM4;PRKDC

CUI:	C0006826
Disease:

Malignant Neoplasms

0.010

GeneticVariation

BEFREE

ATR is an attractive target in cancer therapy because it signals replication stress and DNA lesions for repair and to S/G2 checkpoints.

26486089

2015