Cockayne Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0751037
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Genes

150 genes associated with the disease Cockayne Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ADA adenosine deaminase
AFP alpha-fetoprotein
AHR aryl hydrocarbon receptor
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAS2 5'-aminolevulinate synthase 2
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALPL alkaline phosphatase, liver/bone/kidney
AMPD1 adenosine monophosphate deaminase 1
ANXA5 annexin A5
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
ATAT1 alpha tubulin acetyltransferase 1
ATF3 activating transcription factor 3
ATR ATR serine/threonine kinase
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BANF1 barrier to autointegration factor 1
BDNF brain-derived neurotrophic factor
BLM Bloom syndrome, RecQ helicase-like
BMP2 bone morphogenetic protein 2
BRCA2 breast cancer 2, early onset
BTN2A2 butyrophilin, subfamily 2, member A2
CAT catalase
CCL2 chemokine (C-C motif) ligand 2
CCL3 chemokine (C-C motif) ligand 3
CD38 CD38 molecule
CDCA8 cell division cycle associated 8
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CENPJ centromere protein J
CEP63 centrosomal protein 63kDa
CHEK1 checkpoint kinase 1
COMT catechol-O-methyltransferase
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen)
CSH2 chorionic somatomammotropin hormone 2
CTCF CCCTC-binding factor (zinc finger protein)
CYBB cytochrome b-245, beta polypeptide
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DCN decorin
DHFR dihydrofolate reductase
DLK1 delta-like 1 homolog (Drosophila)
DLL1 delta-like 1 (Drosophila)
ENDOV endonuclease V
EPO erythropoietin
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EYA1 EYA transcriptional coactivator and phosphatase 1
FEN1 flap structure-specific endonuclease 1
FOXP3 forkhead box P3
GLB1 galactosidase, beta 1
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa
GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa
GTF2H5 general transcription factor IIH, polypeptide 5
GYPA glycophorin A (MNS blood group)
GYPB glycophorin B (MNS blood group)
GYPE glycophorin E (MNS blood group)
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
HDAC6 histone deacetylase 6
HDAC9 histone deacetylase 9
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMOX1 heme oxygenase 1
HSPA9 heat shock 70kDa protein 9 (mortalin)
HTRA3 HtrA serine peptidase 3
IFNB1 interferon, beta 1, fibroblast
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL18 interleukin 18
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL6 interleukin 6
IL7R interleukin 7 receptor
ISG20 interferon stimulated exonuclease gene 20kDa
KL klotho
KRAS Kirsten rat sarcoma viral oncogene homolog
LMNA lamin A/C
LZTR1 leucine-zipper-like transcription regulator 1
MAPK3 mitogen-activated protein kinase 3
MAPK8 mitogen-activated protein kinase 8
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MET MET proto-oncogene, receptor tyrosine kinase
MS4A2 membrane-spanning 4-domains, subfamily A, member 2
MT2A metallothionein 2A
MYRF myelin regulatory factor
NEFM neurofilament, medium polypeptide
NES nestin
NOS3 nitric oxide synthase 3 (endothelial cell)
NR1H2 nuclear receptor subfamily 1, group H, member 2
OGG1 8-oxoguanine DNA glycosylase
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
PARP1 poly (ADP-ribose) polymerase 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PECAM1 platelet/endothelial cell adhesion molecule 1
PGBD3 piggyBac transposable element derived 3
PHF11 PHD finger protein 11
PKM pyruvate kinase, muscle
PNO1 partner of NOB1 homolog (S. cerevisiae)
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLH polymerase (DNA directed), eta
POLQ polymerase (DNA directed), theta
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PON1 paraoxonase 1
PPID peptidylprolyl isomerase D
PPIF peptidylprolyl isomerase F
PTH parathyroid hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYCR1 pyrroline-5-carboxylate reductase 1
RAD51 RAD51 recombinase
RAD52 RAD52 homolog (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RIT1 Ras-like without CAAX 1
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
SETD2 SET domain containing 2
SETDB1 SET domain, bifurcated 1
SFRP1 secreted frizzled-related protein 1
SIRT1 sirtuin 1
SLC12A9 solute carrier family 12, member 9
SLC25A38 solute carrier family 25, member 38
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SOS1 son of sevenless homolog 1 (Drosophila)
SPRTN SprT-like N-terminal domain
SUN1 Sad1 and UNC84 domain containing 1
SYT9 synaptotagmin IX
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TBPL1 TBP-like 1
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TERF2 telomeric repeat binding factor 2
TGFB1 transforming growth factor, beta 1
TP53 tumor protein p53
TUBA1B tubulin, alpha 1b
USP7 ubiquitin specific peptidase 7 (herpes virus-associated)
UVSSA UV-stimulated scaffold protein A
VEGFA vascular endothelial growth factor A
WRN Werner syndrome, RecQ helicase-like
XAB2 XPA binding protein 2
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
ZMPSTE24 zinc metallopeptidase STE24