Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4141
Gene Symbol: MARS1
MARS1
0.010 Biomarker disease BEFREE Mechanistically, MARS preferentially bound to and modified ataxia-telangiectasia and Rad3-related protein (ATR), inhibited ATR and its downstream effectors checkpoint kinase-1 and p53, and relieved cell-cycle arrest and decreased DNA damage-induced apoptosis by disrupting the binding of ATR-interacting protein to ATR. 30304680 2018
Entrez Id: 554213
Gene Symbol: MIR449A
MIR449A
0.010 Biomarker disease BEFREE Bioinformatic analysis predicted that ataxia-telangiectasia group D complementing gene (ATDC) was a potential target gene of miR-449a. 29684857 2018
Entrez Id: 3439
Gene Symbol: IFNA1
IFNA1
0.010 Biomarker disease BEFREE Chronic IFN production stemmed from the accumulation of DNA in the cytoplasm of AT and Artemis-deficient cells. 29155101 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.010 GeneticVariation disease BEFREE Examples of dystonia that is responsive to dopaminergic drugs include the following: transportopathies (dopamine transporter deficiency; vesicular monoamine transporter 2 deficiency); <i>SOX6</i> mutation resulting in a developmentally decreased number of nigral cells; degenerative disorders with progressive loss of nigral cells (juvenile Parkinson's disease; pallidopyramidal syndrome; spinocerebellar ataxia type 3), and disorders that are not known to affect the nigrostriatal dopaminergic system (DYT1; GLUT1 deficiency; myoclonus-dystonia; ataxia telangiectasia). 29983692 2018
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.010 GeneticVariation disease BEFREE High-risk individuals were defined as carrying germline mutations in BRCA1, BRCA2, p53 (Li-Fraumeni), STK11 (Peutz-Jeghers), MSH2 (Lynch), ATM (ataxia-telangiectasia), or APC (familial adenomatous polyposis). 29309780 2018
Entrez Id: 10048
Gene Symbol: RANBP9
RANBP9
0.010 Biomarker disease BEFREE Recent studies also showed that RANBP9 is involved in the Ataxia Telangiectasia Mutated (ATM) signaling upon DNA damage. 29914204 2018
Entrez Id: 7307
Gene Symbol: U2AF1
U2AF1
0.010 AlteredExpression disease BEFREE Here we report a chain of events triggered by multiple splicing factor mutations, especially high-risk alleles in SRSF2 and U2AF1, including elevated R-loops, replication stress, and activation of the ataxia telangiectasia and Rad3-related protein (ATR)-Chk1 pathway. 29395063 2018
Entrez Id: 5649
Gene Symbol: RELN
RELN
0.010 Biomarker disease BEFREE Ataxia telangiectasia alters the ApoB and reelin pathway. 30343341 2018
Entrez Id: 59272
Gene Symbol: ACE2
ACE2
0.010 Biomarker disease BEFREE At the protein level, the major luminal neutral amino acid transporter B<sup>0</sup>AT1 (SLC6A19) and its accessory protein angiotensin-converting enzyme 2 were shown by immunofluorescence to be expressed similarly in newborns and in adults. 30160974 2018
Entrez Id: 50616
Gene Symbol: IL22
IL22
0.010 Biomarker disease BEFREE Moreover, the morphometry-based quantification data collected confirmed other findings associated with radiation sensitizing effects of ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related protein (ATR) inhibitor and the radiation protective effect of IL-22. 30409423 2018
Entrez Id: 3447
Gene Symbol: IFNA13
IFNA13
0.010 Biomarker disease BEFREE Chronic IFN production stemmed from the accumulation of DNA in the cytoplasm of AT and Artemis-deficient cells. 29155101 2018
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP
0.010 Biomarker disease BEFREE Mechanistically, MARS preferentially bound to and modified ataxia-telangiectasia and Rad3-related protein (ATR), inhibited ATR and its downstream effectors checkpoint kinase-1 and p53, and relieved cell-cycle arrest and decreased DNA damage-induced apoptosis by disrupting the binding of ATR-interacting protein to ATR. 30304680 2018
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
0.010 Biomarker disease BEFREE We investigate redox state-superoxide (SO) generation rate, activity of complex I in electron transport chain (ETC) of mitochondria and of dinitrosyl iron complexes by electron paramagnetic resonance; activity of matrix metalloproteinase (gelatinase) MMP-2 and MMP-9 by gel zymography of adipose tissues (AT) from 46 patients (64.0 ± 1.6 y.o.) with CRC (II-III stages, pT2-3N0-2M0) in the AT adjacent to tumor (ATAT) and at a distance of 3 cm from the tumor (ATD) to follow the connection of the AT redox state with some of the tumor microenvironment indicators. 30581847 2018
Entrez Id: 1633
Gene Symbol: DCK
DCK
0.010 AlteredExpression disease BEFREE Here, using metabolomic, proteomic, and phosphoproteomic approaches, we show that inhibition of the replication stress sensing kinase ataxia telangiectasia and Rad3-related protein (ATR) reduces the output of both de novo and salvage pathways by regulating the activity of their respective rate-limiting enzymes, ribonucleotide reductase (RNR) and deoxycytidine kinase (dCK), via distinct molecular mechanisms. 28808226 2017
Entrez Id: 4878
Gene Symbol: NPPA
NPPA
0.010 Biomarker disease BEFREE ACA = anti-cardiolipin antibodies; ANF = anti-nuclear factor; anti-CCP = anti-cyclic citrullinated peptide; anti-dsDNA = anti-double-stranded DNA; anti-RNP = anti-ribonucleoprotein; anti-Scl70 = anti-topoisomerase I antibodies; anti-SM = anti-Smith antigen antibodies; anti-SS-A/Ro = anti-Sjögren syndrome-related antigen A (Ro); anti-SS-B/La = anti-Sjögren syndrome-related antigen B (La); anti-Tg = anti-thyroglobulin; anti-TPO = anti-thyroid peroxidase; ATD = autoimmune thyroid disease; ENA = extractable nuclear antigen; fT4 = free thyroxine; OR = odds ratio; RF = rheumatoid factor; SLE = systemic lupus erythematosus; SLEDAI = SLE Disease Activity Index; TD = thyroid dysfunction; TSH = thyroid-stimulating hormone; TT3 = total triiodothyronine. 28816533 2017
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
0.010 Biomarker disease BEFREE Altogether, our findings suggest a place for SERPINC1 genotyping in the diagnosis of ATD. 28300866 2017
Entrez Id: 55740
Gene Symbol: ENAH
ENAH
0.010 Biomarker disease BEFREE ACA = anti-cardiolipin antibodies; ANF = anti-nuclear factor; anti-CCP = anti-cyclic citrullinated peptide; anti-dsDNA = anti-double-stranded DNA; anti-RNP = anti-ribonucleoprotein; anti-Scl70 = anti-topoisomerase I antibodies; anti-SM = anti-Smith antigen antibodies; anti-SS-A/Ro = anti-Sjögren syndrome-related antigen A (Ro); anti-SS-B/La = anti-Sjögren syndrome-related antigen B (La); anti-Tg = anti-thyroglobulin; anti-TPO = anti-thyroid peroxidase; ATD = autoimmune thyroid disease; ENA = extractable nuclear antigen; fT4 = free thyroxine; OR = odds ratio; RF = rheumatoid factor; SLE = systemic lupus erythematosus; SLEDAI = SLE Disease Activity Index; TD = thyroid dysfunction; TSH = thyroid-stimulating hormone; TT3 = total triiodothyronine. 28816533 2017
Entrez Id: 9156
Gene Symbol: EXO1
EXO1
0.010 Biomarker disease BEFREE Activation of DNA end resection involves phosphorylation of the 5' to 3' exonuclease EXO1 by the phosphoinositide 3-kinase-like kinases ATM (ataxia telangiectasia-mutated) and ATR (ATM and Rad3-related) and by the cyclin-dependent kinases 1 and 2. 28515316 2017
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
0.010 AlteredExpression disease BEFREE Moreover, depletion of TCAB1 caused both cell cycle arrest and apoptosis, and suppressed the activation of ataxia telangiectasia and Rad3 related protein (ATR) induced by EBV, resulting in accumulation of DNA damage. 28607398 2017
Entrez Id: 140805
Gene Symbol: HT
HT
0.010 Biomarker disease BEFREE Autoimmune thyroid disease (ATD) is caused by the development of autoimmunity against thyroid antigens and comprises Hashimoto's thyroiditis and Graves disease. 28751878 2017
Entrez Id: 142
Gene Symbol: PARP1
PARP1
0.010 Biomarker disease BEFREE Interestingly, NEIL3-deficient cells were sensitive to ataxia-telangiectasia and Rad3 related protein (ATR) inhibitor alone or in combination with PARP1 inhibitor. 29348879 2017
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
0.010 Biomarker disease BEFREE ACA = anti-cardiolipin antibodies; ANF = anti-nuclear factor; anti-CCP = anti-cyclic citrullinated peptide; anti-dsDNA = anti-double-stranded DNA; anti-RNP = anti-ribonucleoprotein; anti-Scl70 = anti-topoisomerase I antibodies; anti-SM = anti-Smith antigen antibodies; anti-SS-A/Ro = anti-Sjögren syndrome-related antigen A (Ro); anti-SS-B/La = anti-Sjögren syndrome-related antigen B (La); anti-Tg = anti-thyroglobulin; anti-TPO = anti-thyroid peroxidase; ATD = autoimmune thyroid disease; ENA = extractable nuclear antigen; fT4 = free thyroxine; OR = odds ratio; RF = rheumatoid factor; SLE = systemic lupus erythematosus; SLEDAI = SLE Disease Activity Index; TD = thyroid dysfunction; TSH = thyroid-stimulating hormone; TT3 = total triiodothyronine. 28816533 2017
Entrez Id: 8862
Gene Symbol: APLN
APLN
0.010 AlteredExpression disease BEFREE Expression levels of apelin and APJ were depressed after the inhibition of apelin (p < 0.01). 28962638 2017
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
0.010 Biomarker disease BEFREE Mechanistic studies reveal inhibition of DPYD expression by p53 is augmented following thymidylate synthase (TS) inhibition and DPYD repression by p53 is dependent on DNA-dependent protein kinase (DNA-PK) and Ataxia telangiectasia mutated (ATM) signaling. 28851987 2017
Entrez Id: 2309
Gene Symbol: FOXO3
FOXO3
0.010 GeneticVariation disease BEFREE PcG-related target genes involved in DNA damage were identified, including p53, <i>Ataxia telangiectasia mutated</i> (<i>ATM</i>) and <i>Forkhead box O3 (FOXO3</i>). 28979810 2017