Xeroderma Pigmentosum Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. (Human Disease Ontology, DOID_0050427)
External Link https://www.disgenet.org/browser/0/1/0/C1848410
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Genes

240 genes associated with the disease Xeroderma Pigmentosum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AAGAB alpha- and gamma-adaptin binding protein
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ADA adenosine deaminase
AHR aryl hydrocarbon receptor
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B
ARHGAP24 Rho GTPase activating protein 24
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ASIP agouti signaling protein
ATF3 activating transcription factor 3
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
ATXN3 ataxin 3
BAG1 BCL2-associated athanogene
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BCR breakpoint cluster region
BIVM-ERCC5 BIVM-ERCC5 readthrough
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTN2A2 butyrophilin, subfamily 2, member A2
CAT catalase
CATSPER1 cation channel, sperm associated 1
CCND1 cyclin D1
CCNH cyclin H
CDA cytidine deaminase
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK4 cyclin-dependent kinase 4
CDK7 cyclin-dependent kinase 7
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CEP164 centrosomal protein 164kDa
CETN2 centrin, EF-hand protein, 2
CGA glycoprotein hormones, alpha polypeptide
CHD1 chromodomain helicase DNA binding protein 1
CHEK1 checkpoint kinase 1
CIAO2B cytosolic iron-sulfur assembly component 2B
CIB1 calcium and integrin binding 1 (calmyrin)
COMT catechol-O-methyltransferase
COX2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRLF3 cytokine receptor-like factor 3
CRYZ crystallin, zeta (quinone reductase)
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen)
CSH2 chorionic somatomammotropin hormone 2
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CUL4A cullin 4A
CXCL8 chemokine (C-X-C motif) ligand 8
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
DDB1 damage-specific DNA binding protein 1, 127kDa
DDB2 damage-specific DNA binding protein 2, 48kDa
DDR1 discoidin domain receptor tyrosine kinase 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DEFB103A defensin, beta 103A
DEFB103B defensin, beta 103B
DHFR dihydrofolate reductase
E2F1 E2F transcription factor 1
EGFR epidermal growth factor receptor
EIF3A eukaryotic translation initiation factor 3, subunit A
EIF6 eukaryotic translation initiation factor 6
ENDOV endonuclease V
EPHB2 EPH receptor B2
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
ESR1 estrogen receptor 1
EXO1 exonuclease 1
FANCG Fanconi anemia, complementation group G
FAS Fas cell surface death receptor
FEN1 flap structure-specific endonuclease 1
FUS FUS RNA binding protein
GADD45A growth arrest and DNA-damage-inducible, alpha
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GOT1 glutamic-oxaloacetic transaminase 1, soluble
GRAP2 GRB2-related adaptor protein 2
GSK3B glycogen synthase kinase 3 beta
GSTM1 glutathione S-transferase mu 1
GSTM2 glutathione S-transferase mu 2 (muscle)
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 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
GTPBP2 GTP binding protein 2
H1F0 H1 histone family, member 0
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HPGDS hematopoietic prostaglandin D synthase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA9 heat shock 70kDa protein 9 (mortalin)
HTT huntingtin
ICAM1 intercellular adhesion molecule 1
IFI44 interferon-induced protein 44
IGF2 insulin-like growth factor 2
IMMT inner membrane protein, mitochondrial
IRF9 interferon regulatory factor 9
KAT7 K(lysine) acetyltransferase 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LCE2B late cornified envelope 2B
LIG4 ligase IV, DNA, ATP-dependent
LRRC59 leucine rich repeat containing 59
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MARCHF1 membrane associated ring-CH-type finger 1
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEPE matrix extracellular phosphoglycoprotein
MGMT O-6-methylguanine-DNA methyltransferase
MMD monocyte to macrophage differentiation-associated
MMP1 matrix metallopeptidase 1
MMS19 MMS19 nucleotide excision repair homolog (S. cerevisiae)
MNAT1 MNAT CDK-activating kinase assembly factor 1
MPG N-methylpurine-DNA glycosylase
MPO myeloperoxidase
MT2A metallothionein 2A
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUS81 MUS81 structure-specific endonuclease subunit
MYC v-myc avian myelocytomatosis viral oncogene homolog
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NBN nibrin
NCAM1 neural cell adhesion molecule 1
NLRP2 NLR family, pyrin domain containing 2
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NQO1 NAD(P)H dehydrogenase, quinone 1
NR1H2 nuclear receptor subfamily 1, group H, member 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
ODC1 ornithine decarboxylase 1
OGG1 8-oxoguanine DNA glycosylase
PAH phenylalanine hydroxylase
PARP1 poly (ADP-ribose) polymerase 1
PCNA proliferating cell nuclear antigen
PDIK1L PDLIM1 interacting kinase 1 like
PEA15 phosphoprotein enriched in astrocytes 15
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POLH polymerase (DNA directed), eta
POLQ polymerase (DNA directed), theta
POLR1G RNA polymerase I subunit G
POMC proopiomelanocortin
PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A
PRDX5 peroxiredoxin 5
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PTAFR platelet-activating factor receptor
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RAD1 RAD1 checkpoint DNA exonuclease
RAD23A RAD23 homolog A (S. cerevisiae)
RAD23B RAD23 homolog B (S. cerevisiae)
RAD51 RAD51 recombinase
RAD54L RAD54-like (S. cerevisiae)
RECQL RecQ helicase-like
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RREB1 ras responsive element binding protein 1
RRM1 ribonucleotide reductase M1
RTEL1 regulator of telomere elongation helicase 1
SIRT1 sirtuin 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLX4 SLX4 structure-specific endonuclease subunit
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMO smoothened, frizzled class receptor
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1
SYCP1 synaptonemal complex protein 1
TALDO1 transaldolase 1
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TDG thymine-DNA glycosylase
TERF2 telomeric repeat binding factor 2
TGFBR1 transforming growth factor, beta receptor 1
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TMEM189 transmembrane protein 189
TMEM189-UBE2V1 TMEM189-UBE2V1 readthrough
TP53 tumor protein p53
TP73 tumor protein p73
TSLIG1 tRNA splicing ligase complex subunit 1
TYMS thymidylate synthetase
UBE2V1 ubiquitin-conjugating enzyme E2 variant 1
UBE3B ubiquitin protein ligase E3B
UGGT1 UDP-glucose glycoprotein glucosyltransferase 1
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4
UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9
USP11 ubiquitin specific peptidase 11
USP7 ubiquitin specific peptidase 7 (herpes virus-associated)
VEPH1 ventricular zone expressed PH domain-containing 1
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae)
WDR76 WD repeat domain 76
WDR77 WD repeat domain 77
XAB2 XPA binding protein 2
XAF1 XIAP associated factor 1
XDH xanthine dehydrogenase
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
XYLT2 xylosyltransferase II
ZC3H12D zinc finger CCCH-type containing 12D
ZNF253 zinc finger protein 253
ZNF436 zinc finger protein 436
ZNF569 zinc finger protein 569
ZNF629 zinc finger protein 629
ZNF763 zinc finger protein 763