ataxia telangiectasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_12704)
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Genes

244 genes co-occuring with the disease ataxia telangiectasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
ATM ATM serine/threonine kinase 3.84823
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 2.26007
RAD50 RAD50 homolog (S. cerevisiae) 1.95065
PRKDC protein kinase, DNA-activated, catalytic polypeptide 1.87561
TP53 tumor protein p53 1.74142
CHEK1 checkpoint kinase 1 1.70724
H2AFX H2A histone family, member X 1.63769
NBN nibrin 1.60145
ATR ATR serine/threonine kinase 1.4092
BRCA1 breast cancer 1, early onset 1.39608
RPA2 replication protein A2, 32kDa 1.38341
APTX aprataxin 1.38254
TRIM29 tripartite motif containing 29 1.3494
AFP alpha-fetoprotein 1.3276
SETX senataxin 1.27214
NPAT nuclear protein, ataxia-telangiectasia locus 1.26691
TCL1A T-cell leukemia/lymphoma 1A 1.25124
TTPA tocopherol (alpha) transfer protein 1.15538
CD79A CD79a molecule, immunoglobulin-associated alpha 1.15368
CMC4 C-x(9)-C motif containing 4 1.10426
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1.103
BRCA2 breast cancer 2, early onset 1.07194
GADD45A growth arrest and DNA-damage-inducible, alpha 1.0324
RNF168 ring finger protein 168, E3 ubiquitin protein ligase 1.02102
CUL5 cullin 5 1.01807
SACS sacsin molecular chaperone 1.01216
ATMIN ATM interactor 1.00879
LIG4 ligase IV, DNA, ATP-dependent 0.993596
VPS9D1 VPS9 domain containing 1 0.961216
RAD51 RAD51 recombinase 0.957033
TRAC T cell receptor alpha constant 0.925452
LIG1 ligase I, DNA, ATP-dependent 0.899924
TOP1 topoisomerase (DNA) I 0.89623
CDC25C cell division cycle 25C 0.89541
TOPBP1 topoisomerase (DNA) II binding protein 1 0.882701
CDC25A cell division cycle 25A 0.875738
GPR132 G protein-coupled receptor 132 0.858952
MTCP1 mature T-cell proliferation 1 0.856087
VSTM2B V-set and transmembrane domain containing 2B 0.851992
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 0.842573
ZNF536 zinc finger protein 536 0.836427
RAD52 RAD52 homolog (S. cerevisiae) 0.815514
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase 0.80936
HINFP histone H4 transcription factor 0.765535
SRSF1 serine/arginine-rich splicing factor 1 0.765535
FANCD2 Fanconi anemia, complementation group D2 0.764718
HIST1H2AD histone cluster 1, H2ad 0.746391
HIST1H2AJ histone cluster 1, H2aj 0.746391
AP2B1 adaptor-related protein complex 2, beta 1 subunit 0.745172
H2AFV H2A histone family, member V 0.744766
H2AFB2 H2A histone family, member B2 0.743954
H2AFB1 H2A histone family, member B1 0.742735
H2AFY2 H2A histone family, member Y2 0.742735
H2AFJ H2A histone family, member J 0.741517
HIST1H2AH histone cluster 1, H2ah 0.741517
HIST1H2AM histone cluster 1, H2am 0.737865
HIST1H2AB histone cluster 1, H2ab 0.731786
HIST1H2AE histone cluster 1, H2ae 0.731786
IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) 0.731381
GRIA4 glutamate receptor, ionotropic, AMPA 4 0.728143
HIST1H2AG histone cluster 1, H2ag 0.724098
KAT5 K(lysine) acetyltransferase 5 0.711587
IRS2 insulin receptor substrate 2 0.703938
UBA6 ubiquitin-like modifier activating enzyme 6 0.70233
DEK DEK proto-oncogene 0.701526
H2AFY H2A histone family, member Y 0.697911
CD40LG CD40 ligand 0.690694
IARS isoleucyl-tRNA synthetase 0.687891
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 0.6791
PRPF4B pre-mRNA processing factor 4B 0.672722
WRN Werner syndrome, RecQ helicase-like 0.67113
TLK1 tousled-like kinase 1 0.664769
SPINK2 serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) 0.652089
GRIA2 glutamate receptor, ionotropic, AMPA 2 0.642221
MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 0.637889
STK4 serine/threonine kinase 4 0.629242
NBEAL1 neurobeachin-like 1 0.625711
MDC1 mediator of DNA-damage checkpoint 1 0.616703
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 0.614747
ABI2 abl-interactor 2 0.605372
PRKD3 protein kinase D3 0.597571
DCLRE1C DNA cross-link repair 1C 0.593674
PLK4 polo-like kinase 4 0.593285
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 0.590948
SF3B2 splicing factor 3b, subunit 2, 145kDa 0.587833
DMAP1 DNA methyltransferase 1 associated protein 1 0.587444
CD4 CD4 molecule 0.578106
PARP1 poly (ADP-ribose) polymerase 1 0.577327
KIF20B kinesin family member 20B 0.561004
XPC xeroderma pigmentosum, complementation group C 0.558285
HDAC4 histone deacetylase 4 0.554403
DAP3 death associated protein 3 0.53657
XPA xeroderma pigmentosum, complementation group A 0.530381
JUN jun proto-oncogene 0.528835
KCNH3 potassium channel, voltage gated eag related subfamily H, member 3 0.522659
SPHAR S-phase response (cyclin related) 0.517265
POP4 processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 0.513417
RPS15A ribosomal protein S15a 0.508424
ULBP1 UL16 binding protein 1 0.502675
JMY junction mediating and regulatory protein, p53 cofactor 0.495793
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit 0.493885
CDC7 cell division cycle 7 0.491215
IRS1 insulin receptor substrate 1 0.472982
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1 0.472604
TERF1 telomeric repeat binding factor (NIMA-interacting) 1 0.461639
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 0.461639
LRRC16A leucine rich repeat containing 16A 0.459751
PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 0.456355
MYO9A myosin IXA 0.453716
HTR1E 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 0.448441
UNG uracil-DNA glycosylase 0.443547
HIST1H4F histone cluster 1, H4f 0.442042
HIST1H4K histone cluster 1, H4k 0.442042
HIST1H4C histone cluster 1, H4c 0.442042
HIST1H4B histone cluster 1, H4b 0.442042
HIST1H4D histone cluster 1, H4d 0.442042
HIST1H4I histone cluster 1, H4i 0.442042
HIST1H4E histone cluster 1, H4e 0.442042
HIST1H4H histone cluster 1, H4h 0.442042
HIST2H4B histone cluster 2, H4b 0.442042
HIST1H4A histone cluster 1, H4a 0.442042
HIST1H4J histone cluster 1, H4j 0.442042
HIST2H4A histone cluster 2, H4a 0.44129
HIST1H4L histone cluster 1, H4l 0.439786
HIST4H4 histone cluster 4, H4 0.43941
RPA1 replication protein A1, 70kDa 0.43227
CHEK2 checkpoint kinase 2 0.43227
MARK2 MAP/microtubule affinity-regulating kinase 2 0.428516
UBA2 ubiquitin-like modifier activating enzyme 2 0.425514
ADCK3 aarF domain containing kinase 3 0.424014
ACAT1 acetyl-CoA acetyltransferase 1 0.422515
FKBP1A FK506 binding protein 1A, 12kDa 0.421765
AICDA activation-induced cytidine deaminase 0.42139
TDP1 tyrosyl-DNA phosphodiesterase 1 0.42139
SYPL1 synaptophysin-like 1 0.410161
ATRIP ATR interacting protein 0.405305
PSMC1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 0.403811
WNK2 WNK lysine deficient protein kinase 2 0.401945
THY1 Thy-1 cell surface antigen 0.401572
DBF4 DBF4 zinc finger 0.398962
CASP3 caspase 3, apoptosis-related cysteine peptidase 0.397471
CCNB1 cyclin B1 0.39598
SOD2 superoxide dismutase 2, mitochondrial 0.394863
DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 0.394491
CD3E CD3e molecule, epsilon (CD3-TCR complex) 0.384822
PLEKHF1 pleckstrin homology domain containing, family F (with FYVE domain) member 1 0.384451
JPH4 junctophilin 4 0.376661
CDK1 cyclin-dependent kinase 1 0.361502
TCL1B T-cell leukemia/lymphoma 1B 0.355972
ATCAY ataxia, cerebellar, Cayman type 0.352659
CDK2 cyclin-dependent kinase 2 0.351555
MAPK14 mitogen-activated protein kinase 14 0.351187
BLM Bloom syndrome, RecQ helicase-like 0.348614
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 0.348246
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 0.347511
BAZ1B bromodomain adjacent to zinc finger domain, 1B 0.346042
AMICA1 adhesion molecule, interacts with CXADR antigen 1 0.344941
AVEN apoptosis, caspase activation inhibitor 0.342006
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 0.341639
RAD54B RAD54 homolog B (S. cerevisiae) 0.33944
NOVA1 neuro-oncological ventral antigen 1 0.337242
HUS1 HUS1 checkpoint homolog (S. pombe) 0.335046
DHFR dihydrofolate reductase 0.328105
RIPK4 receptor-interacting serine-threonine kinase 4 0.327375
TRIO trio Rho guanine nucleotide exchange factor 0.325552
SLC38A4 solute carrier family 38, member 4 0.325187
RAD23A RAD23 homolog A (S. cerevisiae) 0.324094
PNKP polynucleotide kinase 3'-phosphatase 0.322637
TOP3A topoisomerase (DNA) III alpha 0.321909
CLSPN claspin 0.318635
UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 0.315366
HPRT1 hypoxanthine phosphoribosyltransferase 1 0.31464
SUN1 Sad1 and UNC84 domain containing 1 0.312827
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 0.312827
STRAP serine/threonine kinase receptor associated protein 0.31029
MLH1 mutL homolog 1 0.292616
RNF8 ring finger protein 8, E3 ubiquitin protein ligase 0.292616
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase 0.288668
IGF1R insulin-like growth factor 1 receptor 0.287593
ERCC5 excision repair cross-complementation group 5 0.286519
DRD2 dopamine receptor D2 0.28294
LYPD1 LY6/PLAUR domain containing 1 0.279367
POLG polymerase (DNA directed), gamma 0.275801
DIAPH2 diaphanous-related formin 2 0.273664
ISG15 ISG15 ubiquitin-like modifier 0.272953
CAT catalase 0.272953
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.272953
OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 0.270819
AKT1 v-akt murine thymoma viral oncogene homolog 1 0.269043
SLC7A4 solute carrier family 7, member 4 0.267977
ULBP3 UL16 binding protein 3 0.266913
CDC45 cell division cycle 45 0.266558
CBX3 chromobox homolog 3 0.265494
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) 0.264431
CDKN2A cyclin-dependent kinase inhibitor 2A 0.258417
NUAK1 NUAK family, SNF1-like kinase, 1 0.258064
MAP2K4 mitogen-activated protein kinase kinase 4 0.256299
MMP3 matrix metallopeptidase 3 0.255241
MST1R macrophage stimulating 1 receptor 0.252774
DUSP10 dual specificity phosphatase 10 0.241546
ITCH itchy E3 ubiquitin protein ligase 0.241196
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.23945
BRAP BRCA1 associated protein 0.233878
CRLF1 cytokine receptor-like factor 1 0.228679
ZFYVE26 zinc finger, FYVE domain containing 26 0.227642
MYB v-myb avian myeloblastosis viral oncogene homolog 0.222822
HIPK2 homeodomain interacting protein kinase 2 0.22145
RECQL4 RecQ protein-like 4 0.218034
LMNB1 lamin B1 0.215653
POLE polymerase (DNA directed), epsilon, catalytic subunit 0.215653
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 0.215314
RFC5 replication factor C (activator 1) 5, 36.5kDa 0.213283
SESN2 sestrin 2 0.212271
WEE1 WEE1 G2 checkpoint kinase 0.208914
DNASE2 deoxyribonuclease II, lysosomal 0.204593
MCM4 minichromosome maintenance complex component 4 0.200331
HMOX2 heme oxygenase 2 0.19742
EP400 E1A binding protein p400 0.197099
SP1 Sp1 transcription factor 0.19582
GZMH granzyme H (cathepsin G-like 2, protein h-CCPX) 0.195501
BBS10 Bardet-Biedl syndrome 10 0.192344
BAX BCL2-associated X protein 0.191408
KLRK1 killer cell lectin-like receptor subfamily K, member 1 0.188938
NCAM1 neural cell adhesion molecule 1 0.188632
NPTX2 neuronal pentraxin II 0.184128
POLD1 polymerase (DNA directed), delta 1, catalytic subunit 0.182957
MCAT malonyl CoA:ACP acyltransferase (mitochondrial) 0.182666
FAS Fas cell surface death receptor 0.182666
RAD17 RAD17 homolog (S. pombe) 0.179802
UBA1 ubiquitin-like modifier activating enzyme 1 0.174881
MEF2D myocyte enhancer factor 2D 0.169571
APRT adenine phosphoribosyltransferase 0.168854
CHKA choline kinase alpha 0.168617
IGF1 insulin-like growth factor 1 (somatomedin C) 0.168381
STK11 serine/threonine kinase 11 0.167224
UBE2N ubiquitin-conjugating enzyme E2N 0.166095
E2F1 E2F transcription factor 1 0.163523
COIL coilin 0.163523
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit 0.162505
MGST1 microsomal glutathione S-transferase 1 0.162505
STMN2 stathmin 2 0.161139
TSC22D3 TSC22 domain family, member 3 0.158778
MT-ATP8 ATP synthase F0 subunit 8 0.158778
MELK maternal embryonic leucine zipper kinase 0.158605