XP
MCID: XRD001

Xeroderma Pigmentosum malady

Summaries for Xeroderma Pigmentosum

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30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 15GeneReviews, 22MalaCards
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NIH Rare Diseases: Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop in infancy or early childhood. Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. Inherited mutations in at least eight genes have been identified. The condition is inherited in an autosomal recessive manner.30

MalaCards: Xeroderma Pigmentosum, also known as desanctis-cacchione syndrome, is related to xeroderma pigmentosum, group c and xeroderma pigmentosum, group a. An important gene associated with Xeroderma Pigmentosum is XPC (xeroderma pigmentosum, complementation group C), and among its related pathways are Dual incision reaction in GG-NER and Formation of incision complex in GG-NER. The compounds 8-oxoguanine and egcg have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and lung, and related mouse phenotypes are endocrine/exocrine gland and craniofacial.

Genetics Home Reference: Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.17

Wikipedia: Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the...44 more...

OMIM: 278800

GeneReviews summary for xp

Aliases & Descriptions for Xeroderma Pigmentosum

Sources:
6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS, 24MeSH
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Aliases & Descriptions:

xeroderma pigmentosum 6 7 44 15 30 16 17 8 33 32
desanctis-cacchione syndrome 15 16 17
xp 30 16 17
de sanctis-cacchione syndrome 30 33
xeroderma pigmentosa 30 16
xerodermic idiocy 30
des syndrome 43
xeroderma 43

Related Diseases for Xeroderma Pigmentosum

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13GeneCards, 14GeneDecks
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Disease types for xeroderma pigmentosum family:

xeroderma pigmentosum type 7 xeroderma pigmentosum, type 1
xeroderma pigmentosum, type 2 xeroderma pigmentosum, type 3
xeroderma pigmentosum, type 5 xeroderma pigmentosum, type 6
xeroderma pigmentosum, type 9

Diseases related to xeroderma pigmentosum by text searches and GeneDecks gene sharing:

(show top 50)    (show all 576)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum, group c38.6RECQL, RAD23A, RAD23B, UVRAG, XPC, CETN2
2xeroderma pigmentosum, group a38.2RECQL4, PCNA, LMNA, XPA, XPC, MSSE
3xeroderma pigmentosum, group d37.1XRCC1, XRCC4, XPC, ERCC2
4xeroderma pigmentosum, group g36.3FEN1, EXO1, ERCC5, GEN1
5xeroderma pigmentosum, group b35.0BCR, ERCC2, ERCC3, POLR2L
6xeroderma pigmentosum, group f34.9ERCC1, ERCC4, OGG1
7cockayne syndrome33.0ZNF830, PCNA, GCGR, RBX1, BRCA1, BRIP1
8ovarian cancer31.9BRCA1, ATR, MRE11A, CDKN2A, CDK7, CDK4
9neurologic diseases31.2PARP1, XPA, GSTT1, ERCC4, TBP, ABCA1
10breast cancer31.2BRCA1, UBC, CDK4, CYP1A1, ODC1, CRAT
11basal cell carcinoma31.2BCL2, BAX, XRCC1, XRCC3, XPA, MMP1
12multiple self healing squamous epithelioma31.0XPA, MSSE, FANCC, PTCH1
13progeria31.0LMNA, XPA, GTF2H4, ERCC1, ERCC4, ERCC6
14nevoid basal cell carcinoma syndrome30.9PCNA, XPA, MC1R, FANCC, TP53, PTCH1
15testicular cancer30.3XPC, ATM, MGMT, GSTT1, FAS, HPRT1
16renal cell carcinoma30.1PCNA, RBX1, BAX, GSTT1, FAS, HSPA1A
17skin carcinoma29.7CDK4, GSTT1, TP53, CPOX
18albinism29.4XRCC1, XRCC3, XRCC4, XPC, GSR, GSTT1
19dna topoisomerase i28.5PARP1, ATM, MRE11A, CDKN2A, CDK4, TP53
20mental retardation syndrome28.4RBX1, ATR, ATM, HPRT1, ERCC2, TPH1
21microcephaly28.2BRCA1, LIG4, XRCC4, ATR, ATM, MRE11A
22squamous cell carcinoma27.5PCNA, RARG, PARP1, BCL2, BAX, XRCC1
23systemic lupus erythematosus27.4BCR, APEX1, FAS, MBL2, F8, HPRT1
24ataxia telangiectasia27.3PCNA, BRCA1, LIG4, LIG1, PARP1, BCL2
25neurodegeneration26.3RBX1, PARP1, BCL2, UBC, BAX, ATM
26skin cancer26.1PCNA, BRCA1, LIG4, BCL2, BAX, XRCC1
27germ cell tumor26.0PCNA, RARG, PARP1, BCL2, BAX, XRCC1
28renal carcinoma25.9PCNA, LMNA, BCL2, BCR, BAX, CDKN2A
29keratosis25.8PCNA, LMNA, BCL2, CDKN2A, MMP1, GSTT1
30laryngitis25.7RECQL4, PCNA, BRCA1, RAD23B, BCL2, BAX
31fanconi's anemia25.6REV1, PCNA, BRCA1, BRIP1, LMNA, RAD23A
32esophageal squamous cell carcinoma25.5PCNA, LMNA, PARP1, BCL2, BAX, XRCC1
33cataract25.4RECQL4, PCNA, LMNA, PARP1, XRCC1, GSR
34anemia25.4REV1, PCNA, BRCA1, BRIP1, LMNA, RAD23A
35glioblastoma25.3PARP1, BAX, CDKN2A, CDK4, MGMT, TP53
36synovial sarcoma25.3PCNA, BCL2, BAX, XRCC4, CDKN2A, CDK4
37benign tumors25.1PCNA, GSR, FAS, CAT, HMGA1, TP53
38melanoma24.7PCNA, RBX1, BRCA1, LMNA, RAD23A, PARP1
39seizures24.7PARP1, MT2A, MMP1, IMMT, HSPA1A, CALB2
40leiomyoma24.6PCNA, BRCA1, PARP1, BCL2, BAX, XRCC1
41herpes simplex24.5REV3L, PCNA, LMNA, LIG4, BCL2, UNG
42ataxia24.4PCNA, BRCA1, RAD23A, RAD23B, LIG4, LIG1
43meningioma24.3RECQL4, REV1, PCNA, BRIP1, RAD54L, LIG4
44graves' disease24.3BCL2, BAX, XRCC1, GSR, GSTT1, APEX1
45esophagitis24.3REV1, REV3L, PCNA, BRCA1, LMNA, RAD23B
46esophageal cancer24.3PCNA, RAD23B, PARP1, BCL2, BAX, MT2A
47ovarian carcinoma24.1REV1, REV3L, PCNA, BRCA1, RARG, PARP1
48epithelial ovarian cancer23.9BRCA1, BRIP1, LIG4, LIG1, PARP1, BCL2
49lung adenocarcinoma23.3PCNA, PARP1, BCL2, BCR, UBC, BAX
50nasopharyngitis23.3PCNA, PARP1, BCL2, UBC, BAX, MT2A

Graphical network of the top 20 diseases related to xeroderma pigmentosum:



Graphical network of diseases related to xeroderma pigmentosum

Clinical Features for Xeroderma Pigmentosum

Sources:
33OMIM
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Clinical features from OMIM: 278800

Drugs & Therapeutics for Xeroderma Pigmentosum

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Genetic Tests for Xeroderma Pigmentosum

Anatomical Context for Xeroderma Pigmentosum

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22MalaCards
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MalaCards organs/tissues related to xeroderma pigmentosum:

22
Brain, Liver, Lung, Breast, Skin, Prostate, T cells, B cells

Phenotypes for genes affiliated with Xeroderma Pigmentosum

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25MGI
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MGI Mouse Phenotypes related to xeroderma pigmentosum:

25 (show all 27)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1endocrine/exocrine gland phenotypeMP:000537910.6BRCA1, RARG, RAD23B, PSAP, CUL4A, ERCC1
2craniofacial phenotypeMP:00053829.9ERCC3, TP73, PTCH1, SSBP3, SMO, TDG
3respiratory system phenotypeMP:00053889.7ADA, SIRT1, ABCA1, SMO, TPH1, HPRT1
4liver/biliary system phenotypeMP:00053709.3FANCC, F11, HPRT1, ERCC4, ERCC6, TP53
5pigmentation phenotypeMP:00011869.2HPRT1, ERCC2, TP53, PTCH1, PTEN, HELLS
6reproductive system phenotypeMP:00053899.2ZNF830, GCGR, BRCA1, LMNA, RARG, RAD23B
7adipose tissue phenotypeMP:00053759.1ERCC6, TP53, TPH1, PTEN, NQO1, HELLS
8digestive/alimentary phenotypeMP:00053819.0HPRT1, ERCC5, PTCH1, PTEN, CUL4A, SMO
9skeleton phenotypeMP:00053908.9ERCC2, ERCC1, TP53, TP73, PTCH1, PTEN
10limbs/digits/tail phenotypeMP:00053718.9TP53, PTCH1, PTEN, SMO, HELLS, TDG
11normal phenotypeMP:00028738.6CYP1A1, PTCH1, CALB2, APEX1, FEN1, SSBP3
12renal/urinary system phenotypeMP:00053678.3ERCC1, PTCH1, PTEN, ABCA1, HELLS, PSAP
13integument phenotypeMP:00107718.2ATR, CD8A, CDK4, APRT, MC1R, FAS
14behavior/neurological phenotypeMP:00053868.0TPH1, TP73, ERCC6, ERCC1, ERCC3, ERCC2
15hematopoietic system phenotypeMP:00053977.9PCNA, BRCA1, RAD54L, LIG4, LIG1, BCL2
16muscle phenotypeMP:00053697.8TP53, TPH1, PTCH1, PTEN, CRAT, ABCA1
17vision/eye phenotypeMP:00053917.8TP73, TP53, ERCC6, ERCC8, ERCC2, PTCH1
18tumorigenesisMP:00020067.5POLD1, POLE, POLH, POLI, SIRT1, GADD45A
19immune system phenotypeMP:00053877.5CUL4A, NQO1, RPA1, ABCA1, PSAP, PRKDC
20embryogenesis phenotypeMP:00053807.5GADD45A, POLD1, CSNK2B, TDG, HELLS, SMO
21nervous system phenotypeMP:00036317.5TP73, ERCC6, ERCC8, ERCC2, HPRT1, CALB2
22hearing/vestibular/ear phenotypeMP:00053777.3TP73, SMO, ABCB1, PSAP, PRKDC, SOD1
23cardiovascular system phenotypeMP:00053856.0SMO, CYP1A1, DDB1, TBP, PTEN, PTCH1
24growth/size phenotypeMP:00053785.3TP53, PRKDC, CSNK2B, SIRT1, ADA, GADD45A
25mortality/agingMP:00107684.5POLD1, POLE, SIRT1, ADA, GADD45A, CSNK2B
26homeostasis/metabolism phenotypeMP:00053764.1ERCC5, HELLS, TDG, TALDO1, PSAP, PRKDC
27cellular phenotypeMP:00053843.7RAD23B, LIG4, LIG1, PARP1, BCL2, BCR

Publications for genes affiliated with Xeroderma Pigmentosum

Sources:
35PubMed
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Articles related to xeroderma pigmentosum:

(show top 50)    (show all 303)
idTitleAuthorsYearAffiliating Genes
1Xeroderma pigmentosum skin: an immune privilege site for tumor development. (19719835)Abid K.... Hamzaoui K.2010BCL2, BAX, FAS
2Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis. (18202716)Rezvani H.R.... Taieb A.2008CAT, XPC
3Polymorphisms of the DNA repair gene xeroderma pigmentosum groups A and C and risk of esophageal squamous cell carcinoma in a population of high incidence region of North China. (17653764)Guo W.... Dong X.J.2008XPC, XPA
4Xeroderma pigmentosum genes: functions inside and out side DNA repair. (18174245)Sugasawa K.2008POLH
5Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. (17344931)Tanioka M.... Nishigori C.2007POLH
6In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation. (17682058)Yasuda G.... Sugasawa K.2007XPC
7The structure of the human centrin 2-xeroderma pigmentosum group C protein complex. (16627479)Thompson J.R.... Kumar R.2006XPC, CETN2
8Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. (16947863)Oh K.-S.... Kraemer K.H.2006ERCC3
9Specific and efficient binding of xeroderma pigmentosum complementation group A to double-strand/single-strand DNA junctions with 3'- and/or 5'-ssDNA branches. (17176115)Yang Z.... Zou Y.2006XPA
10Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome. (16325378)Itoh T.2006DDB2, SSBP3
11Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (15744458)Ridley A.J.... Jones C.J.2005XPC, ERCC8
12Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk. (16030124)Kuschel B.... Pharoah P.D.2005ERCC2
13Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. (16135823)Theron T.... Lehmann A.R.2005ERCC2
14Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. (15964821)Nishi R.... Hanaoka F.2005XPC, RAD23B, CETN2
15Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells. (12948486)Zhou N.Y.... O'Connor T.R.2003XPC
16Cloning and expression of xeroderma pigmentosum compl ementation group A cDNA and the identification of its recombinant protein. (12947563)Yang Y.... Zhu X.2003XPA
17Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer. (12396616)Muotri A.R.... Menck C.F.2002XPC
18Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. (12060391)Emmert S.... Kraemer K.H.2002ERCC5
19Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of primary lung cancer. (12376498)Park J.Y.... Jung T.H.2002XPA
20The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. (11156600)Lehmann A.R.2001ERCC2
21Enhanced S phase delay and inhibition of replication of an undamaged shuttle vector in UVC-irradiated xeroderma pigmentosum variant. (11181443)Bullock S.K.... Cordeiro-Stone M.2001POLH
22The xeroderma pigmentosum group E gene product DDB2 is a specific target of cullin 4A in mammalian cells. (11564859)Nag A.... Raychaudhuri P.2001CUL1, UBC, DDB1
23Xeroderma pigmentosum complementation group A protein acts as a processivity factor. (10814539)Lambert M.W.... Yang L.2000XPA
24UV-specific mutations of the human patched gene in basal cell carcinomas from normal individuals and xeroderma pigmentosum patients. (10838143)Daya-Grosjean L.... Sarasin A.2000PTCH1
25Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). (10340474)Lee B.E.... Kim D.K.1999RPA1, RPA2, XPA
26Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum. (10604143)Quackenbush E.J.... Levy H.L.1999XPC
27Subnuclear distribution of DNA topoisomerase I and Bax protein in normal and xeroderma pigmentosum fibroblasts after irradiation with UV light and gamma rays or treatment with topotecan. (10235474)Thielmann H.W.... Staab H.J.1999TOP1
28The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein. (9874796)Takeda N.... Maru Y.1999BCR, ERCC3
29Complete restoration of normal DNA repair characteristics in group F xeroderma pigmentosum cells by over-expression of transfected XPF cDNA. (9472693)Yagi T.... Takebe H.1998ERCC4
30Characterization of molecular defects in Xeroderma pigmentosum group F in relation to its clinically mild symptoms. (9580660)Matsumura Y.... Takebe H.1998ERCC4
31Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. (9238033)Taylor E.M.... Lehmann A.R.1997ERCC2
32Mutations in the XPD gene leading to Xeroderma pigmentosum symptoms. (9101292)Kobayashi T.... Tanaka K.1997ERCC2
33Isolation of a cDNA encoding a UV-damaged DNA binding factor defective in xeroderma pigmentosum group E cells. (8538642)Hwang B.J.... Chu G.1996DDB1
34A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. (8663148)Hwang J.R.... Egly J.M.1996ERCC2, ERCC3
35Xeroderma pigmentosum group F caused by a defect in a structure- specific DNA repair endonuclease. (8797827)Sijbers A.M.... Wood R.D.1996ERCC4
36Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum. (8595429)Satokata I.... Tanaka K.1995XPA
37Defects in the DNA repair and transcription gene ERCC2 in the cancer- prone disorder xeroderma pigmentosum group D. (7585650)Takayama K.... Weber C.A.1995ERCC2
38Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. (7825573)Broughton B.C.... Lehmann A.R.1995ERCC2
39Human Xeroderma pigmentosum group G gene encodes a DNA endonuclease. (8078765)Habraken Y.... Prakash S.1994ERCC5
40Analysis of cells harboring a putative DNA repair gene reveals a lack of evidence for a second independent xeroderma pigmentosum group A correcting gene. (7519740)Jones C.J.... Wood R.D.1994XPA
41Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. (8304337)Vermeulen W.... Weeda G.1994ERCC3
42Human Xeroderma pigmentosum group D gene encodes a DNA helicase. (8413672)Sung P.... Prakash S.1993ERCC2
43UV-induced mutations in a shuttle vector replicated in repair deficient trichothiodystrophy cells differ with those in genetically-related cancer prone xeroderma pigmentosum. (8392442)Madzak C.... Sarasin A.1993CAT
44High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. (8105686)Nishigori C.... Takebe H.1993XPA
45Molecular basis of group A Xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. (1339397)Satokata I.... Okada Y.1992XPA
46Two types of proliferating cell nuclear antigen (PCNA) complex formation in quiescent normal and xeroderma pigmentosum group A fibroblasts following ultraviolet light (uv) irradiation. (1353458)Miura M.... Takasaki Y.1992PCNA
47Correction of Xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene. (1729695)Fletjer W.L.... Schultz R.A.1992ERCC2
48Induction of the 72-kD heat shock protein in xeroderma pigmentosum complementation group A fibroblasts. (1431227)Muramatsu T.... Ohnishi T.1992HSPA1A
49Defects in antioxidant defense and calcium transport in the epidermis of xeroderma pigmentosum patients. (1801654)Schallreuter K.U.... Wood J.M.1991GSR, CAT, PRDX5
50Identification and characterization of xpac protein, the gene product of the human XPAC (Xeroderma pigmentosum group A complementing) gene. (1918083)Miura N.... Okada Y.1991XPA

Expression for genes affiliated with Xeroderma Pigmentosum

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum

Pathways for genes affiliated with Xeroderma Pigmentosum

Sources:
38Reactome, 34PharmGKB, 41Thomson Reuters, 10EMD Millipore, 36QIAGEN, 20KEGG, 3Cell Signaling Technology
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Pathways related to xeroderma pigmentosum according to GeneDecks:

(show top 50)    (show all 68)
idPathwayScoreTop Affiliating Genes
1Dual incision reaction in GG-NER3811.1RAD23B, XPA, XPC, ERCC5, ERCC1, ERCC4
2Formation of incision complex in GG-NER3810.8ERCC3, ERCC2, GTF2H4, GTF2H2, GTF2H1
3Fluoropyrimidine Pathway, Pharmacodynamics3410.8DHFR, TDG, TP53, ERCC2, XRCC3
4DNA damage_DNA-damage-induced responses4110.6PRKDC, ATM, ATR, BRCA1
5DNA damage DNA-damage-induced responses1010.6PRKDC, ATM, ATR, BRCA1
6Transcription P53 signaling pathway1010.6ATR, CDKN2A, GTF2H1, GTF2H2, GTF2H4, GTF2H5
7Nucleotide Excision Repair Pathway3610.6ERCC1, ERCC4, ERCC6, RPA2, POLD1, POLE
8Mismatch repair2010.6POLD1, RPA2, RPA1, EXO1, LIG1, PCNA
9Basal transcription factors2010.6TBP, ERCC3, ERCC2, CCNH, GTF2H5, GTF2H4
10DNA Damage310.6DDB1, DDB2, RPA1, RPA2, PRKDC, GADD45A
11DNA Damage Induced 14-3-3Sigma Signaling3610.5TP53, ATM, ATR, RAD1, BRCA1
12Assembly of RNA Polymerase-II Initiation Complex3610.5POLR2L, TBP, GTF2H5, GTF2H4, GTF2H2, GTF2H1
13Non-homologous end-joining2010.5POLM, PRKDC, FEN1, MRE11A, XRCC4, LIG4
14Mismatch Repair in Eukaryotes3610.4POLE, POLD1, RPA2, EXO1, FEN1, PCNA
15Transcription of mRNA3610.4POLR2L, TBP, GTF2H5, GTF2H4, GTF2H2, GTF2H1
16GADD45 Pathway3610.4GADD45A, TP53, CDK4, CDK7, ATM, ATR
17Transcription_Ligand-Dependent Transcription of Retinoid-Target genes4110.4CDK7, GTF2H1, GTF2H2, GTF2H4, GTF2H5, CCNH
18Transcription Ligand-Dependent Transcription of Retinoid-Target genes1010.4POLR2L, SAP130, CDK7, GTF2H1, GTF2H2, GTF2H4
19DNA damage ATM/ATR regulation of G1/S checkpoint1010.4GADD45A, CDK4, ATM, ATR
20Resolution of AP sites via the single-nucleotide replacement pathway3810.3XRCC1, APEX1, TDG, OGG1
21DNA damage_Role of Brca1 and Brca2 in DNA repair4110.3BRCA1, BRIP1, XPC, ATR, ATM, MRE11A
22DNA damage Role of Brca1 and Brca2 in DNA repair1010.3POLR2L, PCNA, BRCA1, BRIP1, XPC, ATR
23Homologous recombination2010.3POLD1, RPA2, RPA1, MRE11A, XRCC3, RAD54L
24Chks in Checkpoint Regulation3610.3TP53, MRE11A, ATM, ATR, RAD1, BRCA1
25ATM Pathway3610.3GADD45A, TP73, TP53, MRE11A, ATM, BRCA1
26DNA replication2010.2POLE, POLD1, POLA1, RPA2, RPA1, FEN1
27Nucleotide excision repair2010.2PCNA, RBX1, RAD23A, RAD23B, LIG1, POLE
28Platinum Pathway, Pharmacokinetics/Pharmacodynamics3410.2MT2A, GSTT1, NQO1, SOD1
29Cyclins and Cell Cycle Regulation3610.1TP53, CCNH, CDK4, CDK7, CDKN2A, ATM
30Cell Cycle, Mitotic3810.1POLE, DHFR, RPA2, RPA1, CCNH, FEN1
31Transcription_P53 signaling pathway4110.1BCL2, XPA, XPC, ATR, ATM, CDKN2A
32Dual incision reaction in TC-NER3810.1ERCC6, ERCC8, XAB2
33DNA damage_NHEJ mechanisms of DSBs repair4110.0SIRT1, POLM, CSNK2B, CSNK2A2, PRKDC, FEN1
34DNA damage NHEJ mechanisms of DSBs repair1010.0BRCA1, LIG4, XRCC4, MRE11A, FEN1, PRKDC
35Fanconis Anaemia Pathway369.9FANCC, MRE11A, ATR, UBC, BRCA1
36DNA Repair Mechanisms369.9PCNA, ERCC3, ERCC5, ERCC1, ERCC4, ERCC6
37Doxorubicin Pathway (Cancer Cell), Pharmacodynamics349.9SOD1, ABCB1, NQO1, TP53, ERCC2, CAT
38BRCA1 Pathway369.9GADD45A, HELLS, TP53, FANCC, MRE11A, ATM
39Cell cycle Transition and termination of DNA replacation109.9POLE, PCNA, BRCA1, LIG1, CDK4, FEN1
40DNA damage_ATM/ATR regulation of G1/S checkpoint419.9GADD45A, TP53, CDK4, ATM, ATR, UBC
41Cell cycle209.9CCNH, TP53, CUL1, PRKDC, GADD45A, CDK4
42RAR-Gamma-RXR-Alpha Degradation369.9TBP, GTF2H5, GTF2H4, GTF2H2, GTF2H1, CDK7
43Cell cycle_Transition and termination of DNA replication419.7BRCA1, LIG1, UBC, FEN1, TOP1, POLA1
44Base excision repair209.7PCNA, LIG1, PARP1, UNG, XRCC1, FEN1
45Cell Cycle / Checkpoint Control39.6TP53, TP73, RPA1, RPA2, PRKDC, RRM1
46HIF1Alpha Pathway369.5TP53, HSPA1A, APEX1, CDKN2A, UBC, RBX1
47p53 signaling pathway209.2GADD45A, DDB2, PTEN, TP73, TP53, FAS
48Selected targets of p53108.7POLH, ABCB1, TP53, MGMT, CDK4, BAX
49p53 Signaling368.4TP53, PTEN, SIRT1, GADD45A, CDK4, ATM
50Pathways in cancer208.3SMO, PTEN, PTCH1, TP53, FAS, MMP1

Compounds for genes affiliated with Xeroderma Pigmentosum

Sources:
32Novoseek , 9DrugBank, 34PharmGKB, 18HMDB, 42Tocris Bioscience
See all sources

Compounds related to xeroderma pigmentosum according to GeneDecks:

(show top 50)    (show all 266)
idCompoundScoreTop Affiliating Genes
18-oxoguanine32 10.7XRCC1, POLR2L, OGG1, HELLS, ERCC6, HPRT1
2egcg32 10.6CAT, SOD1, TOP1, ODC1
3hydroxyurea32 9 9 12.6RRM1, POLR2L, RECQL4, PCNA, BRCA1, DHFR
4aphidicolin32 10.5DHFR, TOP1, RPA2, CRAT, TP53, HPRT1
5platinum32 10.3TOP1, POLH, PRDX5, ERCC1, HMGB1, GSTT1
6bpde32 10.3RPA1, HPRT1, TBP, BRCA1, ATM, GSTT1
7oxaliplatin32 34 9 9 13.3TP53, ERCC1, ERCC2, HPRT1, FAS, GSTT1
8thymine32 18 11.3UNG, APEX1, SSBP3, HELLS, TDG, OGG1
9vincristine32 34 9 9 13.3ADA, CRAT, ODC1, F8, MGMT
10benzo(a)pyrene32 10.3XPA, XRCC1, BRCA1, XPC, HELLS, NQO1
11n acetylcysteine32 10.1GADD45A, PRDX5, NQO1, CRAT, ODC1, TP53
12cyclophosphamide32 34 9 9 13.1F8, MBL2
13methylmethanesulfonate32 10.1PCNA, BRCA1, PARP1, GADD45A, OGG1, HELLS
14adenine32 9 18 9 12.9CRAT, ODC1, TBP, HPRT1, FANCC, APRT
15melphalan32 9 9 11.9ERCC2, FANCC, APRT, MGMT, XRCC3, ERCC3
16folate32 9.8GSTT1, NQO1, ODC1, ERCC2, HPRT1, MC1R
17mitomycin c32 9.7XRCC3, BRCA1, PCNA, XPA, ATM, DHFR
18bcnu32 9.7PRDX5, TOP1, NQO1, TP53, ERCC1, ERCC2
19ascorbic acid32 18 10.6HPRT1, FAS, APEX1, GSTT1, CDK4, XRCC1
20h2o232 9.2HELLS, NQO1, CRAT, ODC1, TPH1, ERCC6
21caffeine32 34 9 18 9 13.2BRCA1, RPA2, CYP1A1, GADD45A, ADA, LIG1
22cysteine32 9.2DDB1, TBP, PTEN, TPH1, HMGB1, APEX1
23estrogen32 9.2BRCA1, RARG, MT2A, CDK7, MMP1, MGMT
24nitric oxide32 9 18 9 12.0CALB2, HMGB1, CPOX, OGG1, PRDX5, ABCA1
25arginine32 9.0ADA, CPOX, POLR2L, CSNK2A2, SOD1, PSAP
26zinc32 18 9.9XRCC1, PTCH1, TBP, DDB1, SSBP3, CRAT
27cytarabine32 34 9 9 11.5ATR, BAX, BCR, BCL2, LIG1, PCNA
28indole-3-carbinol32 8.2TP53, CDK4, NQO1, PTEN, CYP1A1, CRAT
29thymidylate32 8.1ERCC1, ERCC2, HPRT1, FAS, MGMT, CDK4
30progesterone32 42 9 18 9 12.1BRCA1, BCL2, CDKN2A, CSNK2A2, CDK4, MGMT
31adriamycin32 8.0SOD1, OGG1, PRDX5, BCL2, BRCA1, BAX
32carboplatin32 34 9 9 10.9ABCB1, TP53, ERCC1, BCL2, HMGB1, GSR
33resveratrol32 9 18 9 10.9FAS, BAX, BCL2, BRCA1, CDK4, TP53
34gemcitabine32 34 9 9 10.9BAX, BCL2, PARP1, BRCA1, PCNA, APEX1
355fluorouracil32 7.7TDG, CDKN2A, XRCC1, BAX, UNG, BCL2
36doxorubicin32 34 9 9 10.6ERCC1, CAT, FAS, GSTT1, GSR, MGMT
37oligonucleotide32 7.6RPA1, RRM1, RPA2, ABCA1, HELLS, PSAP
38curcumin32 7.4ODC1, TP53, HPRT1, CAT, MGMT, MMP1
39paraffin32 7.4CDKN2A, ATM, CDK4, MMP1, MGMT, APEX1
40camptothecin32 42 9 9 10.2NQO1, BCL2, PARP1, BRCA1, PCNA, BAX
41retinoic acid32 42 18 9.1MMP1, MGMT, FEN1, FAS, CCNH, HMGB1
42paclitaxel32 34 9 9 10.0PTEN, TP53, ERCC1, ERCC2, CALB2, FAS
43etoposide32 42 9 9 9.9PCNA, LIG1, PRDX5, ATR, ATM, MGMT
44arsenite32 18 7.8GADD45A, POLR2L, SOD1, OGG1, DHFR, ABCB1
45serine32 6.8RPA2, F11, F8, CCNH, MBL2, FAS
46genistein32 9 18 9 9.4BAX, BCR, FAS, ATR, PARP1, BRCA1
47quercetin32 42 9 18 9 10.4NQO1, PARP1, ABCB1, BCL2, BAX, GADD45A
48oxygen32 18 7.1GADD45A, CPOX, OGG1, PRDX5, TALDO1, ABCA1
49atp32 6.0F8, ERCC6, MBL2, ERCC5, ERCC3, HMGB1
50cisplatin32 34 9 9 8.7CRAT, SSBP3, CYP1A1, DDB2, DDB1, TBP

GO Terms for genes affiliated with Xeroderma Pigmentosum

Sources:
12Gene Ontology
See all sources

Cellular components related to xeroderma pigmentosum according to GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1XPC complexGO:07194210.6CETN2, XPC, RAD23B
2holo TFIIH complexGO:00567510.6ERCC5, ERCC3, ERCC2, CCNH, GTF2H4, GTF2H2
3nucleotide-excision repair complexGO:00010910.5POLD1, ERCC4, ERCC1, ERCC8
4Cul4A-RING ubiquitin ligase complexGO:03146410.5CUL4A, DDB1, ERCC8, RBX1
5nonhomologous end joining complexGO:07041910.4PRKDC, XRCC4, LIG4
6protein complexGO:04323410.3SSBP3, DDB2, TP53, ERCC8, CDKN2A, UVRAG
7cyclin-dependent protein kinase activating kinase holoenzyme complexGO:01990710.2PUF60, ERCC2, CCNH
8DNA-dependent protein kinase-DNA ligase 4 complexGO:00595810.1PRKDC, XRCC4, LIG4
9PML bodyGO:01660510.0SIRT1, TDG, RPA2, RPA1, PTEN, TP53
10nucleolusGO:0057308.4RPA2, RPA1, TP53, ERCC6, ERCC1, TOP1
11cytoplasmGO:0057376.9RPA1, NQO1, DDB1, TBP, PTEN, TP53
12nucleoplasmGO:0056546.7PARP1, UBC, XRCC1, XRCC4, XPA, XPC
13cytosolGO:0058296.1CAT, HPRT1, HMGA1, TP53, TPH1, PTEN
14nucleusGO:0056344.4POLH, POLI, POLM, POLR2L, SIRT1, GADD45A

Biological processes related to xeroderma pigmentosum according to GeneDecks:

(show top 50)    (show all 75)
idNameGO IDScoreTop Affiliating Genes
1UV protectionGO:00965010.9ERCC4, ERCC1, ERCC5, ERCC2, CAT, MC1R
2nucleotide-excision repair, DNA damage removalGO:00071810.9GTF2H2, GTF2H1, CDK7, XPC, XPA, RAD23B
3response to X-rayGO:01016510.7ERCC6, ERCC1, ERCC8, XRCC4, LIG4
4transcription elongation from RNA polymerase I promoterGO:00636210.7GTF2H1, GTF2H2, GTF2H4, CCNH, ERCC2, ERCC3
5termination of RNA polymerase I transcriptionGO:00636310.7ERCC3, ERCC2, CCNH, GTF2H4, GTF2H2, GTF2H1
6transcription initiation from RNA polymerase I promoterGO:00636110.7GTF2H1, GTF2H2, GTF2H4, CCNH, ERCC2, ERCC3
7transcription from RNA polymerase I promoterGO:00636010.7ERCC3, CDK7, GTF2H1, GTF2H2, GTF2H4, CCNH
87-methylguanosine mRNA cappingGO:00637010.6POLR2L, ERCC3, ERCC2, CCNH, GTF2H4, GTF2H2
9DNA ligation involved in DNA repairGO:05110310.6LIG4, LIG1, XRCC4, HMGB1
10response to UVGO:00941110.6ERCC4, ERCC6, DDB2, POLD1, ERCC8, ERCC5
11positive regulation of viral transcriptionGO:05043410.6POLR2L, ERCC3, ERCC2, CCNH, GTF2H4, GTF2H2
12DNA damage response, signal transduction resulting in induction of apoptosisGO:00863010.6TP73, ERCC6, ATM, XPA, BRCA1
13transcription elongation from RNA polymerase II promoterGO:00636810.6POLR2L, TBP, ERCC3, ERCC2, CCNH, GTF2H4
14double-strand break repair via homologous recombinationGO:00072410.5RPA2, RPA1, ERCC4, MRE11A, ATM, LIG1
15DNA recombinationGO:00631010.5POLM, RPA1, ERCC1, HMGB1, EXO1, APEX1
16nucleotide-excision repair, DNA gap fillingGO:00629710.4POLE, PCNA, LIG4, LIG1, RPA1, RPA2
17multicellular organism growthGO:03526410.4SMO, TP53, ERCC1, ERCC5, ERCC2, RARG
18DNA strand elongation involved in DNA replicationGO:00627110.4POLD1, POLA1, RPA2, RPA1, FEN1, LIG1
19replicative senescenceGO:09039910.3ATR, ATM, CDKN2A, TP53
20nucleotide-excision repairGO:00628910.3POLR2L, POLE, POLD1, OGG1, RPA2, RPA1
21cellular response to ionizing radiationGO:07147910.3GADD45A, SIRT1, TP53, MGMT, RAD1
22transcription-coupled nucleotide-excision repairGO:00628310.3POLR2L, POLE, POLD1, RPA2, RPA1, CDK7
23response to oxidative stressGO:00697910.3NQO1, PRDX5, OGG1, SIRT1, ERCC6, ERCC1
24telomere maintenance via semi-conservative replicationGO:03220110.3POLE, POLD1, POLA1, RPA2, RPA1, FEN1
25telomere maintenance via recombinationGO:00072210.3POLE, POLD1, POLA1, RPA2, RPA1, FEN1
26double-strand break repair via nonhomologous end joiningGO:00630310.2POLA1, PRKDC, MRE11A, XRCC4, LIG4
27double-strand break repairGO:00630210.2SOD1, PRKDC, RPA2, RPA1, TP53, ERCC1
28positive regulation of DNA repairGO:04573910.1SIRT1, ERCC8, APEX1, MGMT, BRCA1
29cell cycle checkpointGO:00007510.0ERCC3, TP53, DDB1, RPA1, RPA2, ERCC2
30DNA synthesis involved in DNA repairGO:00073110.0SIRT1, POLH, POLE, POLD1, POLA1
31T cell differentiation in thymusGO:03307710.0PRKDC, TP53, XRCC4, BCL2, LIG4
32proteasomal ubiquitin-dependent protein catabolic processGO:0431619.9SIRT1, DDB1, ERCC8, RAD23B, RAD23A, RBX1
33base-excision repairGO:0062849.9POLD1, PCNA, LIG1, PARP1, UNG, OGG1
34response to gamma radiationGO:0103329.8PRKDC, TP53, ERCC6, XRCC4, BAX, BCL2
35viral reproductionGO:0160329.7CCNH, HMGA1, ERCC2, ERCC3, TBP, POLR2L
36DNA replicationGO:0062609.7RECQL, HELB, RPA2, RPA1, FEN1, ATR
37transcription from RNA polymerase II promoterGO:0063669.7POLR2L, TBP, ERCC6, ERCC3, ERCC2, CCNH
38telomere maintenanceGO:0007239.7POLE, POLD1, POLA1, PRKDC, RPA2, RPA1
39virus-host interactionGO:0190489.5TBP, DDB1, CUL1, CUL4A, TOP1, POLA1
40positive regulation of transcription from RNA polymerase II promoterGO:0459449.5ERCC3, TP53, TP73, SSBP3, SMO, PRKDC
41neuron apoptotic processGO:0514029.4TP53, FAS, ATM, BAX, BCL2, LIG4
42G1 phase of mitotic cell cycleGO:0000809.4CUL1, CCNH, CDK4, CDK7, CDKN2A, UBC
43transcription initiation from RNA polymerase II promoterGO:0063679.3POLR2L, TBP, ERCC3, ERCC2, CCNH, GTF2H4
44response to toxinGO:0096369.3NQO1, ERCC6, FAS, MGMT, XPA, BAX
45response to DNA damage stimulusGO:0069749.2SIRT1, TP73, TP53, ERCC8, MRE11A, ATM
46S phase of mitotic cell cycleGO:0000849.1RPA1, RPA2, POLA1, POLD1, POLE, CUL1
47negative regulation of apoptotic processGO:0430669.0SIRT1, PRDX5, SSBP3, PTEN, TP53, ERCC1
48mitotic cell cycleGO:0002788.8CCNH, CUL1, RPA1, RPA2, POLA1, POLD1
49G1/S transition of mitotic cell cycleGO:0000828.7CUL4A, RPA1, RPA2, POLA1, POLE, CUL1
50DNA repairGO:0062817.4DDB1, FEN1, MGMT, GTF2H4, GTF2H2, GTF2H1

Molecular functions related to xeroderma pigmentosum according to GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA bindingGO:00369710.7ERCC4, SSBP3, RPA1, RPA2, ERCC1, ERCC5
2damaged DNA bindingGO:00368410.6FEN1, APEX1, HMGB1, ERCC3, ERCC1, ERCC4
3DNA-dependent ATPase activityGO:00809410.6ERCC6, ERCC8, ERCC3, ERCC2, CCNH, GTF2H4
4RNA polymerase II carboxy-terminal domain kinase activityGO:00835310.6ERCC3, ERCC2, CCNH, GTF2H4, GTF2H2, GTF2H1
5endodeoxyribonuclease activityGO:00452010.4ERCC4, ERCC5, APEX1, MRE11A
6endonuclease activityGO:00451910.4FEN1, APEX1, ERCC5, OGG1, GEN1
7protein kinase activityGO:00467210.4POLR2L, PRKDC, ERCC3, ERCC2, CCNH, GTF2H4
8protein C-terminus bindingGO:00802210.3SIRT1, ERCC6, ERCC4, ERCC1, ERCC3, ERCC2
9bubble DNA bindingGO:00040510.2ERCC5, XPC, RECQL4
10protein N-terminus bindingGO:04748510.0ERCC6, TP53, RPA2, CSNK2A2, ERCC4, ERCC5
11ATP-dependent DNA helicase activityGO:00400310.0ERCC3, ERCC2, MRE11A, BRIP1, RECQL
12DNA-directed DNA polymerase activityGO:0038879.8POLM, POLI, POLH, POLE, POLD1, POLA1
134 iron, 4 sulfur cluster bindingGO:0515399.6POLE, POLD1, POLA1, ERCC2, BRIP1, REV3L
14ubiquitin protein ligase bindingGO:0316259.5RBX1, BRCA1, BCL2, MC1R, TP53, CUL1
15metal ion bindingGO:0468729.4TP73, RPA1, CSNK2B, POLA1, POLD1, POLH
16transcription factor bindingGO:0081349.2TP73, TBP, PRKDC, CSNK2B, TP53, ERCC3
17ATP bindingGO:0055248.7ABCA1, TP53, ERCC6, ERCC3, ABCB1, HELB
18DNA bindingGO:0036777.9HELLS, DDB2, DDB1, TP53, ERCC6, ERCC3
19protein bindingGO:0055152.0ERCC8, RPA1, RPA2, ABCA1, ABCB1, AHCYL1

Sources for Xeroderma Pigmentosum

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS