Trichothiodystrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
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Genes

289 genes co-occuring with the disease Trichothiodystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
ERCC2 excision repair cross-complementation group 2 3.523
GTF2H5 general transcription factor IIH, polypeptide 5 3.492
ERCC3 excision repair cross-complementation group 3 3.472
MPLKIP M-phase specific PLK1 interacting protein 3.068
XPA xeroderma pigmentosum, complementation group A 3.04
ERCC1 excision repair cross-complementation group 1 2.772
RNF113A ring finger protein 113A 2.719
RAD23B RAD23 homolog B (S. cerevisiae) 2.672
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa 2.584
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa 2.547
ERCC8 excision repair cross-complementation group 8 2.521
ERCC6 excision repair cross-complementation group 6 2.506
CCNH cyclin H 2.47
DDB2 damage-specific DNA binding protein 2, 48kDa 2.457
PPP3R1 protein phosphatase 3, regulatory subunit B, alpha 2.415
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa 2.411
BRIP1 BRCA1 interacting protein C-terminal helicase 1 2.408
ERCC5 excision repair cross-complementation group 5 2.382
UVSSA UV-stimulated scaffold protein A 2.358
GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa 2.346
BIVM-ERCC5 BIVM-ERCC5 readthrough 2.33
ERCC4 excision repair cross-complementation group 4 2.317
GTF2E1 general transcription factor IIE, polypeptide 1, alpha 56kDa 2.306
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 2.265
DDB1 damage-specific DNA binding protein 1, 127kDa 2.245
WRN Werner syndrome, RecQ helicase-like 2.223
GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa 2.207
CDK7 cyclin-dependent kinase 7 2.187
CETN2 centrin, EF-hand protein, 2 2.185
LIG1 ligase I, DNA, ATP-dependent 2.184
XPC xeroderma pigmentosum, complementation group C 2.042
CMIP c-Maf inducing protein 2.031
FEN1 flap structure-specific endonuclease 1 2.012
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 1.986
RTEL1 regulator of telomere elongation helicase 1 1.983
TP53 tumor protein p53 1.96
SRSF1 serine/arginine-rich splicing factor 1 1.952
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 1.941
ATM ATM serine/threonine kinase 1.933
XAB2 XPA binding protein 2 1.921
RAD51 RAD51 recombinase 1.911
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 1.908
MNAT1 MNAT CDK-activating kinase assembly factor 1 1.902
CLMP CXADR-like membrane protein 1.892
MAPK1 mitogen-activated protein kinase 1 1.874
RECQL4 RecQ protein-like 4 1.871
PCNA proliferating cell nuclear antigen 1.857
PRKDC protein kinase, DNA-activated, catalytic polypeptide 1.842
RAD50 RAD50 homolog (S. cerevisiae) 1.82
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 1.799
DNA2 DNA replication helicase/nuclease 2 1.794
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 1.792
NHEJ1 nonhomologous end-joining factor 1 1.788
OGG1 8-oxoguanine DNA glycosylase 1.781
EXO1 exonuclease 1 1.77
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 1.764
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.764
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1.758
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 1.741
LIG3 ligase III, DNA, ATP-dependent 1.74
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 1.729
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 1.729
MAPK14 mitogen-activated protein kinase 14 1.713
BRCA1 breast cancer 1, early onset 1.695
RAD52 RAD52 homolog (S. cerevisiae) 1.682
RNF2 ring finger protein 2 1.668
APTX aprataxin 1.667
MMS19 MMS19 nucleotide excision repair homolog (S. cerevisiae) 1.65
TP53BP1 tumor protein p53 binding protein 1 1.65
JUN jun proto-oncogene 1.635
CHEK1 checkpoint kinase 1 1.634
GTF2B general transcription factor IIB 1.627
TCEA1 transcription elongation factor A (SII), 1 1.626
IL6 interleukin 6 1.625
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A 1.625
TNF tumor necrosis factor 1.617
RPA1 replication protein A1, 70kDa 1.611
MDC1 mediator of DNA-damage checkpoint 1 1.609
SUGCT succinyl-CoA:glutarate-CoA transferase 1.602
TCEA2 transcription elongation factor A (SII), 2 1.592
CHEK2 checkpoint kinase 2 1.588
CIAO1 cytosolic iron-sulfur assembly component 1 1.587
CUL4A cullin 4A 1.583
LIG4 ligase IV, DNA, ATP-dependent 1.581
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.573
ZMPSTE24 zinc metallopeptidase STE24 1.57
ATR ATR serine/threonine kinase 1.561
RAD23A RAD23 homolog A (S. cerevisiae) 1.556
POLL polymerase (DNA directed), lambda 1.554
RECQL RecQ helicase-like 1.553
TCEA3 transcription elongation factor A (SII), 3 1.537
EGFR epidermal growth factor receptor 1.521
MSH3 mutS homolog 3 1.519
RAD9A RAD9 homolog A (S. pombe) 1.507
SPINK5 serine peptidase inhibitor, Kazal type 5 1.505
IL1B interleukin 1, beta 1.501
ESR1 estrogen receptor 1 1.5
TOPBP1 topoisomerase (DNA) II binding protein 1 1.499
TARS1 threonyl-tRNA synthetase 1 1.495
MUTYH mutY homolog 1.488
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 1.488
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 1.483
H2AX H2A.X variant histone 1.483
DSG4 desmoglein 4 1.478
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 1.478
MAPK8 mitogen-activated protein kinase 8 1.475
FANCM Fanconi anemia, complementation group M 1.473
PNKP polynucleotide kinase 3'-phosphatase 1.469
FANCD2 Fanconi anemia, complementation group D2 1.466
POLR2I polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa 1.465
HMGN1 high mobility group nucleosome binding domain 1 1.463
BRCA2 breast cancer 2, early onset 1.462
CIAO2B cytosolic iron-sulfur assembly component 2B 1.46
RBBP8 retinoblastoma binding protein 8 1.459
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.458
TDP1 tyrosyl-DNA phosphodiesterase 1 1.452
HELQ helicase, POLQ-like 1.451
PARP1 poly (ADP-ribose) polymerase 1 1.45
UNG uracil-DNA glycosylase 1.436
ELOF1 elongation factor 1 homolog (S. cerevisiae) 1.43
NTHL1 nth endonuclease III-like 1 (E. coli) 1.426
PNPLA1 patatin-like phospholipase domain containing 1 1.423
ASCC2 activating signal cointegrator 1 complex subunit 2 1.421
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.419
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 1.418
POLI polymerase (DNA directed) iota 1.413
MMP9 matrix metallopeptidase 9 1.4
TBL1X transducin (beta)-like 1X-linked 1.392
HUS1 HUS1 checkpoint homolog (S. pombe) 1.392
ACTB actin, beta 1.391
MUS81 MUS81 structure-specific endonuclease subunit 1.39
IL17A interleukin 17A 1.388
MARS1 methionyl-tRNA synthetase 1 1.382
SUPT4H1 suppressor of Ty 4 homolog 1 (S. cerevisiae) 1.381
MAPK3 mitogen-activated protein kinase 3 1.38
SETX senataxin 1.376
ELOA2 elongin A2 1.372
SIRT6 sirtuin 6 1.37
DBR1 debranching RNA lariats 1 1.366
POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1.354
FANCI Fanconi anemia, complementation group I 1.346
SIRT1 sirtuin 1 1.345
ALOX12B arachidonate 12-lipoxygenase, 12R type 1.344
PPARG peroxisome proliferator-activated receptor gamma 1.342
SLX4 SLX4 structure-specific endonuclease subunit 1.338
SMIM10L2A small integral membrane protein 10 like 2A 1.338
TULP4 tubby like protein 4 1.333
RAD17 RAD17 homolog (S. pombe) 1.331
TERF1 telomeric repeat binding factor (NIMA-interacting) 1 1.329
PALB2 partner and localizer of BRCA2 1.328
BCL2 B-cell CLL/lymphoma 2 1.326
MSH6 mutS homolog 6 1.325
CDK2 cyclin-dependent kinase 2 1.325
CDKN2A cyclin-dependent kinase inhibitor 2A 1.324
SRC SRC proto-oncogene, non-receptor tyrosine kinase 1.323
RAD51C RAD51 paralog C 1.32
SLX1A SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae) 1.318
CARS1 cysteinyl-tRNA synthetase 1 1.317
FOS FBJ murine osteosarcoma viral oncogene homolog 1.313
DNAH8 dynein, axonemal, heavy chain 8 1.313
TBP TATA box binding protein 1.313
ALOXE3 arachidonate lipoxygenase 3 1.312
SERAC1 serine active site containing 1 1.309
MSH2 mutS homolog 2 1.306
MLH1 mutL homolog 1 1.305
TGM1 transglutaminase 1 1.3
ELOA elongin A 1.293
REV1 REV1, polymerase (DNA directed) 1.293
NIPAL4 NIPA-like domain containing 4 1.288
BLM Bloom syndrome, RecQ helicase-like 1.288
IGF1 insulin-like growth factor 1 (somatomedin C) 1.286
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22 1.286
FOXO4 forkhead box O4 1.281
PIF1 PIF1 5'-to-3' DNA helicase 1.28
NUBP1 nucleotide binding protein 1 1.276
MBTPS2 membrane-bound transcription factor peptidase, site 2 1.269
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B 1.265
ENDOV endonuclease V 1.264
FANCA Fanconi anemia, complementation group A 1.263
TGFB1 transforming growth factor, beta 1 1.26
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase 1.259
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 1.259
NEIL1 nei endonuclease VIII-like 1 (E. coli) 1.255
CXCL8 chemokine (C-X-C motif) ligand 8 1.251
ATRIP ATR interacting protein 1.251
MLH3 mutL homolog 3 1.25
CCK cholecystokinin 1.248
RAD18 RAD18 E3 ubiquitin protein ligase 1.242
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.237
RECQL5 RecQ protein-like 5 1.23
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1.23
NBN nibrin 1.226
FANCG Fanconi anemia, complementation group G 1.223
FANCL Fanconi anemia, complementation group L 1.222
CRYBA4 crystallin, beta A4 1.222
FANCB Fanconi anemia, complementation group B 1.219
RBX1 ring-box 1, E3 ubiquitin protein ligase 1.214
POLM polymerase (DNA directed), mu 1.204
POLB polymerase (DNA directed), beta 1.201
RNF168 ring finger protein 168, E3 ubiquitin protein ligase 1.198
FANCC Fanconi anemia, complementation group C 1.196
TYR tyrosinase 1.191
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1.19
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1.185
RNF8 ring finger protein 8, E3 ubiquitin protein ligase 1.184
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 1.183
PAXX PAXX non-homologous end joining factor 1.183
CWF19L1 CWF19-like 1, cell cycle control (S. pombe) 1.18
ATRX alpha thalassemia/mental retardation syndrome X-linked 1.179
GLB1 galactosidase, beta 1 1.175
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 1.173
RPA3 replication protein A3, 14kDa 1.167
CHRM2 cholinergic receptor, muscarinic 2 1.159
SDR9C7 short chain dehydrogenase/reductase family 9C, member 7 1.159
NDOR1 NADPH dependent diflavin oxidoreductase 1 1.157
TOP1 topoisomerase (DNA) I 1.15
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1.143
TERT telomerase reverse transcriptase 1.128
NCOA2 nuclear receptor coactivator 2 1.125
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 1.123
MMP2 matrix metallopeptidase 2 1.119
CCND1 cyclin D1 1.118
FANCF Fanconi anemia, complementation group F 1.118
LMNB1 lamin B1 1.117
CDK4 cyclin-dependent kinase 4 1.105
GPN1 GPN-loop GTPase 1 1.104
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 1.1
EP300 E1A binding protein p300 1.1
POLH polymerase (DNA directed), eta 1.094
TNMD tenomodulin 1.092
BAX BCL2-associated X protein 1.092
POLD1 polymerase (DNA directed), delta 1, catalytic subunit 1.091
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.09
TWNK twinkle mtDNA helicase 1.089
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1.088
EGF epidermal growth factor 1.085
APLF aprataxin and PNKP like factor 1.085
RMI1 RecQ mediated genome instability 1 1.085
HRAS Harvey rat sarcoma viral oncogene homolog 1.085
CERS3 ceramide synthase 3 1.081
EME1 essential meiotic structure-specific endonuclease 1 1.078
H3C12 H3 clustered histone 12 1.077
INS insulin 1.077
RIMKLA ribosomal modification protein rimK-like family member A 1.074
TINF2 TERF1 (TRF1)-interacting nuclear factor 2 1.07
KRT83 keratin 83, type II 1.068
FAHD1 fumarylacetoacetate hydrolase domain containing 1 1.068
IL10 interleukin 10 1.068
TDG thymine-DNA glycosylase 1.068
SNX9 sorting nexin 9 1.065
TUBG2 tubulin, gamma 2 1.065
POLR2D polymerase (RNA) II (DNA directed) polypeptide D 1.065
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 1.061
FAAP24 FA core complex associated protein 24 1.061
CDK1 cyclin-dependent kinase 1 1.059
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3 1.058
GEN1 GEN1 Holliday junction 5' flap endonuclease 1.055
CHRM1 cholinergic receptor, muscarinic 1 1.053
GSK3B glycogen synthase kinase 3 beta 1.053
CIAPIN1 cytokine induced apoptosis inhibitor 1 1.05
ERCC6L2 excision repair cross-complementation group 6-like 2 1.049
H3-5 H3.5 histone 1.048
H3C13 H3 clustered histone 13 1.048
H3-4 H3.4 histone, cluster member 1.047
H2AC20 H2A clustered histone 20 1.046
POLR2G polymerase (RNA) II (DNA directed) polypeptide G 1.046
TCHP trichoplein, keratin filament binding 1.045
H2AC18 H2A clustered histone 18 1.045
FBH1 F-box DNA helicase 1 1.045
GFER growth factor, augmenter of liver regeneration 1.044
H3-3B H3.3 histone B 1.042
RPA2 replication protein A2, 32kDa 1.038
POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 1.037
CLSPN claspin 1.036
SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 1.036
KAT2A K(lysine) acetyltransferase 2A 1.032
SYNJ2 synaptojanin 2 1.028
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 1.02
PXDNL peroxidasin-like 1.018
PXDN peroxidasin 1.017
AARS1 alanyl-tRNA synthetase 1 1.017
FANCE Fanconi anemia, complementation group E 1.017
HSCB HscB mitochondrial iron-sulfur cluster co-chaperone 1.012
PARP2 poly (ADP-ribose) polymerase 2 1.012
TYRP1 tyrosinase-related protein 1 1.009
RAB9B RAB9B, member RAS oncogene family 1.006
NEIL3 nei endonuclease VIII-like 3 (E. coli) 1.003
DKC1 dyskeratosis congenita 1, dyskerin 1.002
CCL2 chemokine (C-C motif) ligand 2 1.0