Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.040 Biomarker BEFREE CHK-2 is activated by the PIP3-kinase-like kinases (PI3KKs) ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related protein (ATR), and in metazoan also by DNA-dependent protein kinase catalytic subunit (DNA-PKcs). 31413202

2019

Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.040 GeneticVariation LHGDN DNA-PK and ATM phosphorylation sites in XLF/Cernunnos are not required for repair of DNA double strand breaks. 18644470

2008

Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.040 GeneticVariation LHGDN ATM and the catalytic subunit of DNA-dependent protein kinase activate NF-kappaB through a common MEK/extracellular signal-regulated kinase/p90(rsk) signaling pathway in response to distinct forms of DNA damage. 14966265

2004

Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.040 GeneticVariation BEFREE To further investigate the role of DNA-dependent protein kinase (DNA-PK) and ataxia-telangiectasia mutation (ATM) in the formation of chromosome aberrations, we analysed radiation-induced aberrations in M059J cells, complemented with the PRKDC (DNA-PK) gene by introducing a fragment of human chromosome 8 containing a copy of the human PRKDC gene. 15164794

2004