cockayne syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. (Human Disease Ontology, DOID_2962)
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Genes

135 genes co-occuring with the disease cockayne syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
ERCC5 excision repair cross-complementation group 5 2.59677
ERCC2 excision repair cross-complementation group 2 2.49537
XPA xeroderma pigmentosum, complementation group A 2.31483
ERCC6 excision repair cross-complementation group 6 2.25742
XPC xeroderma pigmentosum, complementation group C 2.21644
ERCC3 excision repair cross-complementation group 3 2.17812
ERCC8 excision repair cross-complementation group 8 2.08822
PGBD3 piggyBac transposable element derived 3 2.0024
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa 1.94877
CSH2 chorionic somatomammotropin hormone 2 1.86689
XAB2 XPA binding protein 2 1.81058
UVSSA UV-stimulated scaffold protein A 1.7709
DDB1 damage-specific DNA binding protein 1, 127kDa 1.75051
POLR2I polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa 1.72639
GTF2H5 general transcription factor IIH, polypeptide 5 1.68453
DDB2 damage-specific DNA binding protein 2, 48kDa 1.5507
ERCC4 excision repair cross-complementation group 4 1.49789
ERCC1 excision repair cross-complementation group 1 1.41271
SUPT4H1 suppressor of Ty 4 homolog 1 (S. cerevisiae) 1.39433
RAD23B RAD23 homolog B (S. cerevisiae) 1.36466
ZNF830 zinc finger protein 830 1.2944
CDK7 cyclin-dependent kinase 7 1.2717
PGBD5 piggyBac transposable element derived 5 1.23386
OGG1 8-oxoguanine DNA glycosylase 1.21695
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1.19359
BRIP1 BRCA1 interacting protein C-terminal helicase 1 1.17464
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 1.16478
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1.16435
DDX11L8 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 8 1.15496
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 1.15496
HMGN1 high mobility group nucleosome binding domain 1 1.14772
CUL4A cullin 4A 1.11351
FEN1 flap structure-specific endonuclease 1 1.08454
USP7 ubiquitin specific peptidase 7 (herpes virus-associated) 1.08412
WRN Werner syndrome, RecQ helicase-like 1.07068
EXOG endo/exonuclease (5'-3'), endonuclease G-like 1.05976
TP53 tumor protein p53 1.05387
DNAH8 dynein, axonemal, heavy chain 8 0.965405
TTF2 transcription termination factor, RNA polymerase II 0.943274
LIG1 ligase I, DNA, ATP-dependent 0.930414
GTF2B general transcription factor IIB 0.908142
DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21 0.886799
GRWD1 glutamate-rich WD repeat containing 1 0.861409
CCNH cyclin H 0.851992
CCNT2 cyclin T2 0.848716
RECQL4 RecQ protein-like 4 0.838476
SUPT5H suppressor of Ty 5 homolog (S. cerevisiae) 0.834378
POLH polymerase (DNA directed), eta 0.791721
BAZ1A bromodomain adjacent to zinc finger domain, 1A 0.790902
RBX1 ring-box 1, E3 ubiquitin protein ligase 0.778613
PPIE peptidylprolyl isomerase E (cyclophilin E) 0.771252
ENY2 enhancer of yellow 2 homolog (Drosophila) 0.755342
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor) 0.752492
DHFR dihydrofolate reductase 0.752492
MPG N-methylpurine-DNA glycosylase 0.70233
GPR162 G protein-coupled receptor 162 0.70233
POLI polymerase (DNA directed) iota 0.691094
FRRS1L ferric-chelate reductase 1-like 0.6791
PRPF19 pre-mRNA processing factor 19 0.677903
DTL denticleless E3 ubiquitin protein ligase homolog (Drosophila) 0.663578
BLM Bloom syndrome, RecQ helicase-like 0.60069
NEIL2 nei endonuclease VIII-like 2 (E. coli) 0.578494
ATR ATR serine/threonine kinase 0.570718
PARK2 parkin RBR E3 ubiquitin protein ligase 0.570329
PCNA proliferating cell nuclear antigen 0.557897
NFYB nuclear transcription factor Y, beta 0.548583
ATM ATM serine/threonine kinase 0.545093
CTCF CCCTC-binding factor (zinc finger protein) 0.530768
DGAT2L6 diacylglycerol O-acyltransferase 2-like 6 0.530381
CBX3 chromobox homolog 3 0.511496
IMMT inner membrane protein, mitochondrial 0.507273
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 0.503441
MAP2K4 mitogen-activated protein kinase kinase 4 0.501527
GLB1 galactosidase, beta 1 0.495411
OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 0.483224
BUB3 BUB3 mitotic checkpoint protein 0.480945
JUN jun proto-oncogene 0.472982
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase 0.46655
RPA2 replication protein A2, 32kDa 0.451078
POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 0.446182
NTHL1 nth endonuclease III-like 1 (E. coli) 0.443547
TOP1 topoisomerase (DNA) I 0.431894
NFYA nuclear transcription factor Y, alpha 0.430393
PRKDC protein kinase, DNA-activated, catalytic polypeptide 0.429642
NEIL1 nei endonuclease VIII-like 1 (E. coli) 0.428516
RASA1 RAS p21 protein activator (GTPase activating protein) 1 0.42289
RAD51 RAD51 recombinase 0.384079
CDC7 cell division cycle 7 0.380739
DNAI1 dynein, axonemal, intermediate chain 1 0.379997
RNF34 ring finger protein 34, E3 ubiquitin protein ligase 0.373328
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 0.368149
ATF3 activating transcription factor 3 0.361133
FERMT1 fermitin family member 1 0.351923
MSH2 mutS homolog 2 0.350084
TDP1 tyrosyl-DNA phosphodiesterase 1 0.345675
TBP TATA box binding protein 0.344941
TERF2 telomeric repeat binding factor 2 0.344207
MT2A metallothionein 2A 0.337975
H2AFX H2A histone family, member X 0.334681
FES FES proto-oncogene, tyrosine kinase 0.330295
PARP1 poly (ADP-ribose) polymerase 1 0.32701
C10ORF2 chromosome 10 open reading frame 2 0.320817
CDA cytidine deaminase 0.311739
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 0.303059
RRM1 ribonucleotide reductase M1 0.296211
MDC1 mediator of DNA-damage checkpoint 1 0.284013
BRCA1 breast cancer 1, early onset 0.279724
NDRG2 NDRG family member 2 0.27794
IFNB1 interferon, beta 1, fibroblast 0.274376
GNMT glycine N-methyltransferase 0.272241
ELL elongation factor RNA polymerase II 0.257358
FANCM Fanconi anemia, complementation group M 0.244345
PTK7 protein tyrosine kinase 7 (inactive) 0.243645
ACTB actin, beta 0.240497
APTX aprataxin 0.238403
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 0.238054
ATF2 activating transcription factor 2 0.235268
MCPH1 microcephalin 1 0.220424
ADA adenosine deaminase 0.220424
RAD52 RAD52 homolog (S. cerevisiae) 0.220081
ACTG1 actin gamma 1 0.212945
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 0.209583
EP300 E1A binding protein p300 0.209248
ASNS asparagine synthetase (glutamine-hydrolyzing) 0.207912
CHEK1 checkpoint kinase 1 0.203275
QDPR quinoid dihydropteridine reductase 0.203275
CALB1 calbindin 1, 28kDa 0.195501
COPS5 COP9 signalosome subunit 5 0.194865
CDKL5 cyclin-dependent kinase-like 5 0.188938
HBD hemoglobin, delta 0.185612
TREX1 three prime repair exonuclease 1 0.182375
FHIT fragile histidine triad 0.173314
CDK9 cyclin-dependent kinase 9 0.162707
BAX BCL2-associated X protein 0.160203
PHGDH phosphoglycerate dehydrogenase 0.158605