XP
MCID: XRD001
MIFTS: 70

Xeroderma Pigmentosum (XP) malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Xeroderma Pigmentosum

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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. last updated: 10/21/2010

MalaCards: Xeroderma Pigmentosum, also known as de sanctis-cacchione syndrome, is related to xeroderma pigmentosum, group d and cockayne syndrome. An important gene associated with Xeroderma Pigmentosum is ERCC6 (excision repair cross-complementation group 6), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and Doxorubicin Pathway, Pharmacokinetics. The compounds thymine glycol and 2-acetylaminofluorene have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and lung, and related mouse phenotypes are adipose tissue and liver/biliary system.

Disease Ontology:9 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.

Genetics Home Reference:22 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.

Wikipedia:66 Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the... more...

Description from OMIM:48 278720, 278730, 278740, 278760, 278700 610651, 278750, 278780, 278800 more

GeneReviews summary for xp

Aliases & Classifications for Xeroderma Pigmentosum

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9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 48OMIM, 36MeSH
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Classifications:



Aliases & Descriptions:

xeroderma pigmentosum 9 66 20 44 21 23 22 11 46
de sanctis-cacchione syndrome 44 23 48
desanctis-cacchione syndrome 20 22
xp 44 22
xeroderma pigmentosa 44
xerodermic idiocy 44


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Disease Ontology9 DOID:0050427
MeSH36 D014983

Related Diseases for Xeroderma Pigmentosum

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18GeneCards, 19GeneDecks
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Diseases in the Xeroderma Pigmentosum, Variant Type family:

xeroderma pigmentosum 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
Xpa-Related Xeroderma Pigmentosum Ercc3-Related Xeroderma Pigmentosum
Xpc-Related Xeroderma Pigmentosum Ercc2-Related Xeroderma Pigmentosum
Ddb2-Related Xeroderma Pigmentosum Ercc4-Related Xeroderma Pigmentosum
Ercc5-Related Xeroderma Pigmentosum Polh-Related Xeroderma Pigmentosum
Ercc1-Related Xeroderma Pigmentosum

Diseases related to Xeroderma Pigmentosum via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum, group d31.6ERCC2, ERCC3
2cockayne syndrome31.3RAD23B, ERCC6, ERCC3, ERCC1, ERCC2, ERCC5
3basal cell carcinoma31.1PTCH1
4melanoma31.0TP53, PTCH1, DDB2, ERCC1, ERCC5, ERCC2
5lung cancer30.9TP53, ERCC2, ERCC1
6xeroderma pigmentosum, group e, ddb-negative subtype30.9XPC, DDB2, DDB1
7fanconi's anemia30.8PTCH1, ERCC2, ERCC4
8ovarian cancer30.7TP53, ERCC2, XPA, ERCC1, ERCC3
9prostate cancer30.7XPC, ERCC1, ERCC4, ERCC2, ERCC5, TP53
10ataxia telangiectasia30.6XPA, RPA2, RPA1, TP53
11breast cancer30.6PTCH1, TP53, ERCC1, ERCC2
12lung adenocarcinoma30.5ERCC1, TP53, XPA
13adenocarcinoma30.4ERCC4, ERCC2, XPA, XPC, TP53, ERCC1
14nevoid basal cell carcinoma syndrome30.3PTCH1
15astrocytoma30.3TP53, ERCC2, ERCC1, XPC
16xeroderma pigmentosum, group a11.1
17xeroderma pigmentosum, group c11.1
18xeroderma pigmentosum, group g10.8
19xeroderma pigmentosum, variant type10.8
20xeroderma pigmentosum, group f10.7
21xeroderma pigmentosum, group b10.7
22angiosarcoma10.6
23xeroderma pigmentosum type 710.6
24ataxia10.5
25herpes simplex10.5
26prostatitis10.5
27chromosome xp deletion10.5
28laryngitis10.4
29neurologic diseases10.4
30cockayne syndrome type i10.4
31xeroderma pigmentosum, type 110.4
32xeroderma pigmentosum, type 910.4
33xpc-related xeroderma pigmentosum10.4
34ercc1-related xeroderma pigmentosum10.4
35xeroderma pigmentosum, group g/cockayne syndrome10.4
36bloom syndrome10.3
37progeria10.3
38dystonia10.3
39esophagitis10.3
40pterygium10.3
41uv sensitive syndrome10.3
42xeroderma pigmentosum, type 210.3
43xeroderma pigmentosum, type 310.3
44xeroderma pigmentosum, type 510.3
45xeroderma pigmentosum, type 610.3
46xpa-related xeroderma pigmentosum10.3
47ercc3-related xeroderma pigmentosum10.3
48ercc2-related xeroderma pigmentosum10.3
49ddb2-related xeroderma pigmentosum10.3
50ercc4-related xeroderma pigmentosum10.3

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum:



Diseases related to xeroderma pigmentosum

Symptoms for Xeroderma Pigmentosum

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48OMIM
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Symptoms by clinical synopsis from OMIM:

278800

Clinical features from OMIM:

278720,278730,278740,278760,278700,610651,278750,278780,278800

Drugs & Therapeutics for Xeroderma Pigmentosum

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Xeroderma Pigmentosum

Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum

Search NIH Clinical Center for Xeroderma Pigmentosum

Search CenterWatch for Xeroderma Pigmentosum

Genetic Tests for Xeroderma Pigmentosum

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21GeneTests, 23GTR
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Genetic tests related to Xeroderma Pigmentosum:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum21 23 XPC
2 Xeroderma Pigmentosum Multi-Gene Panels21
3 De Sanctis-Cacchione Syndrome23

Anatomical Context for Xeroderma Pigmentosum

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34MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum:

34
Skin, Eye, Lung, Prostate, Breast, Tongue, Liver, Spinal cord, Brain, Lymph node, Testes, B cells

Animal Models for Xeroderma Pigmentosum or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Xeroderma Pigmentosum:

38 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8TP53, XPA, RAD23B, ERCC2, ERCC1, ERCC6
2MP:00053708.8TP53, XPA, ERCC5, ERCC4, ERCC1, ERCC6
3MP:00011868.8PTCH1, TP53, POLH, XPA, ERCC2
4MP:00053828.4PTCH1, TP53, POLH, XPA, RAD23B, ERCC3
5MP:00053698.3PTCH1, TP53, XPA, ERCC1, ERCC3, ERCC6
6MP:00053908.2PTCH1, TP53, XPA, ERCC2, ERCC1, ERCC3
7MP:00053798.1PTCH1, TP53, XPA, RAD23B, ERCC2, ERCC1
8MP:00053897.9PTCH1, TP53, XPA, RAD23B, ERCC2, ERCC1
9MP:00053767.8TP53, XPC, XPA, RAD23B, ERCC5, ERCC2
10MP:00053867.7PTCH1, TP53, XPC, XPA, RAD23B, ERCC2
11MP:00036317.6PTCH1, TP53, XPC, XPA, ERCC2, ERCC6
12MP:00053917.6DDB1, PTCH1, TP53, XPC, XPA, RAD23B
13MP:00053977.5PTCH1, TP53, POLH, RPA1, XPA, ERCC5
14MP:00053877.1PTCH1, TP53, POLH, RPA1, XPA, RAD23B
15MP:00020067.0ERCC6, DDB2, PTCH1, TP53, POLH, RPA1
16MP:00053787.0DDB2, PTCH1, TP53, XPC, XPA, RAD23B
17MP:00107716.9XPC, POLH, TP53, PTCH1, DDB2, XPA
18MP:00053845.9RPA1, TP53, PTCH1, DDB2, DDB1, XPC
19MP:00107685.7XPC, RPA1, TP53, PTCH1, DDB2, DDB1

Publications for Xeroderma Pigmentosum

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53PubMed
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Articles related to Xeroderma Pigmentosum:

(show top 50)    (show all 657)
idTitleAuthorsYear
1
Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology. (23755135)
2013
2
Postoperative neurological aggravation after anesthesia with sevoflurane in a patient with xeroderma pigmentosum: a case report. (23497518)
2013
3
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D). (24252196)
2013
4
Three school-age cases of xeroderma pigmentosum variant type. (23651273)
2013
5
Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration. (23928520)
2013
6
Conservation of the nucleotide excision repair pathway: characterization of hydra Xeroderma Pigmentosum group F homolog. (23577191)
2013
7
Effect of Xeroderma pigmentosum complementation group F polymorphisms on gastric cancer risk and associations with H.pylori infection. (23679285)
2013
8
Hydrogen/Deuterium Exchange Reflects Binding of Human Centrin 2 to Ca(2+) and Xeroderma Pigmentosum Group C Peptide: An Example of EX1 Kinetics. (23439742)
2012
9
Photodynamic therapy in a teenage girl with xeroderma pigmentosum type C. (22277026)
2012
10
Association of cytidine deaminase and xeroderma pigmentosum group D polymorphisms with response, toxicity, and survival in cisplatin/gemcitabine-treated advanced non-small cell lung cancer patients. (22052224)
2011
11
Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA. (21148310)
2011
12
An unusual presentation of xeroderma pigmentosum in a Caucasian child. (20133220)
2010
13
Immunohistochemical prognostic criteria in xeroderma pigmentosum. (21038547)
2010
14
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. (20054342)
2010
15
The carboxy-terminal domain of xeroderma pigmentosum complementation group C protein, involved in TFIIH and centrin binding, is highly disordered. (18177054)
2008
16
Clone of human xeroderma pigmentosum group D cDNA and analysis of its expression and function]. (18693453)
2008
17
Multiple basal cell carcinomas in xeroderma pigmentosum treated with imiquimod 5% cream. (18789101)
2008
18
The xeroderma pigmentosum group E gene product DDB2 activates nucleotide excision repair by regulating the level of p21Waf1/Cip1. (17967871)
2008
19
Cutaneous angiosarcoma in a patient with xeroderma pigmentosum. (19008576)
2008
20
Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice. (18790090)
2008
21
Sunlight, skin cancer and vitamin D: What are the conclusions of recent findings that protection against solar ultraviolet (UV) radiation causes 25-hydroxyvitamin D deficiency in solid organ-transplant recipients, xeroderma pigmentosum, and other risk groups? (17204418)
2007
22
Gene expression profiling of xeroderma pigmentosum. (20223010)
2006
23
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. (15731165)
2005
24
Impaired regulation of tumor suppressor p53 caused by mutations in the xeroderma pigmentosum DDB2 gene: mutual regulatory interactions between p48(DDB2) and p53. (14560002)
2003
25
The role of polymerase eta in somatic hypermutation determined by analysis of mutations in a patient with xeroderma pigmentosum variant. (12244178)
2002
26
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum variant patients. (11773631)
2002
27
UV-induced skin carcinogenesis in xeroderma pigmentosum group A (XPA) gene-knockout mice with nucleotide excision repair-deficiency. (11376684)
2001
28
Topical 5-fluorouracil to treat multiple or unresectable facial squamous cell carcinomas in xeroderma pigmentosum. (11369927)
2001
29
Cockayne syndrome and xeroderma pigmentosum. (11185579)
2000
30
Mast cells in an angiosarcoma complicating xeroderma pigmentosum in a 13-year-old girl. (11044816)
2000
31
The Bowman-Birk protease inhibitor enhances clonogenic cell survival of ionizing radiation-treated nucleotide excision repair-competent cells but not of xeroderma pigmentosum cells. (10716643)
2000
32
Efficient repair of 8-oxo-7,8-dihydrodeoxyguanosine in human and hamster xeroderma pigmentosum D cells. (10956030)
2000
33
The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. (10332046)
1999
34
Partial functional correction of xeroderma pigmentosum group A cells by suppressor tRNA. (10498252)
1999
35
Affinity purification of human DNA repair/transcription factor TFIIH using epitope-tagged xeroderma pigmentosum B protein. (9422774)
1998
36
Clones of normal keratinocytes and a variety of simultaneously present epidermal neoplastic lesions contain a multitude of p53 gene mutations in a xeroderma pigmentosum patient. (9622088)
1998
37
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. (9238033)
1997
38
Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C. (9415314)
1997
39
Truncated XPA protein detected in atypical group A xeroderma pigmentosum. (8740317)
1996
40
Xeroderma pigmentosum and molecular cloning of DNA repair genes. (8687116)
1996
41
Correlation of the clinical manifestations and gene mutations of Japanese xeroderma pigmentosum group A patients. (7577588)
1995
42
Mutation and expression of the XPA gene in revertants and hybrids of a xeroderma pigmentosum cell line. (7974007)
1994
43
Human Xeroderma pigmentosum group G gene encodes a DNA endonuclease. (8078765)
1994
44
Far less frequent mutations in ras genes than in the p53 gene in skin tumors of xeroderma pigmentosum patients. (7916998)
1994
45
Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F. (8253091)
1993
46
Ultraviolet-specific mutations in p53 gene in skin tumors in xeroderma pigmentosum patients. (8319200)
1993
47
Human Xeroderma pigmentosum group D gene encodes a DNA helicase. (8413672)
1993
48
Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome. (1279391)
1992
49
Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C. (1522891)
1992
50
Xeroderma pigmentosum and Cockayne syndrome. (662506)
1978

Variations for Xeroderma Pigmentosum

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Xeroderma Pigmentosum:

1
id Gene Name Type Significance SNP ID Assembly Location
1ERCC6NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter)single nucleotide variantPathogenicrs121917901GRCh37Chr 10, 50686483: 50686483

Expression for genes affiliated with Xeroderma Pigmentosum

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum

Search GEO for disease gene expression data for Xeroderma Pigmentosum.

Pathways for genes affiliated with Xeroderma Pigmentosum

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51PathCards, 52PharmGKB, 56Reactome, 54QIAGEN, 61Thomson Reuters, 31KEGG, 39NCBI BioSystems Database, 5Cell Signaling Technology
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Pathways related to Xeroderma Pigmentosum according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9ERCC4, ERCC1
2
Show member pathways
9.8TP53, ERCC2
3
Show member pathways
9.7ERCC2, ERCC3, ERCC6
49.5XPC, TP53, DDB2
5
Show member pathways
9.5RPA2, RPA1
6
Show member pathways
9.5RPA2, RPA1
7
Show member pathways
Homologous recombination39
9.5RPA2, RPA1
8
Show member pathways
DNA damage response39
9.3RPA2, TP53, DDB2
9
Show member pathways
9.1RPA2, RPA1, TP53
109.1RPA2, RPA1, TP53
119.1TP53, XPC, XPA, ERCC2, ERCC3
12
Show member pathways
Toll-like receptor signaling pathway39
Regulation of toll-like receptor signaling pathway39
8.9TP53, DDB2, DDB1
138.6POLH, RPA1, RPA2, ERCC4, ERCC1
14
Show member pathways
7.6RAD23B, ERCC5, ERCC2, ERCC4, ERCC1, ERCC3
15
Show member pathways
6.3DDB1, DDB2, TP53, UVRAG, RPA1, RPA2
16
Show member pathways
5.9DDB1, DDB2, RPA1, RPA2, XPC, XPA
17
Show member pathways
5.6RPA2, XPC, XPA, RAD23B, ERCC5, ERCC2

Compounds for genes affiliated with Xeroderma Pigmentosum

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46Novoseek, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB
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Compounds related to Xeroderma Pigmentosum according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1thymine glycol4610.3ERCC6, ERCC5
22-acetylaminofluorene4610.3XPA, XPC
3ecteinascidin 7434610.2ERCC5, ERCC2
4sarcnu4610.1ERCC2, TP53
5platinum compounds5210.1ERCC1, ERCC2
6n-acetoxy-2-acetylaminofluorene4610.0TP53, ERCC1
7psoralen4610.0ERCC1, ERCC4, XPA
8adozelesin4610.0RPA2, TP53
9phosphodiester469.9ERCC3, ERCC5
10bcnu469.8ERCC1, ERCC2, TP53
11fluorouracil52 1210.8TP53, ERCC2, ERCC1
127-hydroxystaurosporine46 1210.8TP53, RPA2
13irinotecan46 52 1211.7ERCC1, ERCC2, TP53
14rpa 2469.7RPA2, RPA1
15gemcitabine46 52 1211.7TP53, ERCC2, ERCC1
16platinum46 5210.6POLH, ERCC5, ERCC2, ERCC1
17aphidicolin469.6RPA2, TP53
18benzo(a)pyrene469.6TP53, XPC, XPA, ERCC1
19vincristine46 52 1211.6ERCC1, ERCC2, TP53
20mitomycin c469.6TP53, XPA, ERCC4, ERCC1
21cpds469.6DDB2, RPA1, XPA, ERCC3
22bpde469.5TP53, RPA1
23cyclophosphamide46 52 1211.5ERCC1, ERCC4, ERCC2, TP53
24oxaliplatin46 52 1211.5ERCC1, ERCC2, XPA, TP53
25vinorelbine46 52 1211.5ERCC1, ERCC2
265fluorouracil469.5TP53, ERCC2, ERCC4, ERCC1
27docetaxel46 52 62 1212.5ERCC1, ERCC2, TP53
28hydroxyurea46 52 1211.4RPA2, RPA1, TP53
29melphalan46 52 1211.3TP53, ERCC2, ERCC4, ERCC1, ERCC3
30camptothecin46 62 1211.2RPA2, RPA1, TP53
31atp46 3010.1RPA1, XPC, XPA, ERCC5, ERCC3, ERCC6
32thymidylate469.1ERCC1, ERCC4, ERCC2, RPA1, TP53
33etoposide46 52 62 1212.0TP53, RPA1, RPA2, ERCC1
34oligonucleotide468.4TP53, RPA1, RPA2, XPC, XPA, ERCC5
35zinc46 259.0DDB1, PTCH1, RPA1, RPA2, XPA
36cisplatin46 52 62 129.6ERCC3, DDB1, DDB2, TP53, POLH, RPA1

GO Terms for genes affiliated with Xeroderma Pigmentosum

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17Gene Ontology
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Cellular components related to Xeroderma Pigmentosum according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1SSL2-core TFIIH complexGO:00044110.1ERCC3, ERCC2
2XPC complexGO:07194210.1RAD23B, XPC
3nucleotide-excision repair complexGO:00010910.0ERCC1, ERCC4
4holo TFIIH complexGO:0056759.9ERCC3, ERCC2, ERCC5
5transcription factor TFIID complexGO:0056699.7TP53, ERCC4, ERCC1
6nuclear chromosome, telomeric regionGO:0007849.6ERCC1, ERCC4
7DNA replication factor A complexGO:0056629.6RPA1, RPA2
8protein complexGO:0432349.2UVRAG, TP53, DDB2
9PML bodyGO:0166059.1RPA2, RPA1, TP53
10nucleolusGO:0057307.4TP53, RPA1, RPA2, XPC, XPA, RAD23B
11cytoplasmGO:0057376.6DDB1, TP53, UVRAG, RPA1, XPC, XPA
12nucleusGO:0056346.1XPC, RPA2, RPA1, TP53, DDB1, XPA
13nucleoplasmGO:0056545.5ERCC6, DDB1, DDB2, TP53, POLH, RPA1

Biological processes related to Xeroderma Pigmentosum according to GeneCards/GeneDecks:

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1response to UV-BGO:01022410.4XPC, ERCC6
2nucleotide-excision repair, DNA damage recognitionGO:00071510.3RAD23B, XPC
3hair cell differentiationGO:03531510.3ERCC3, ERCC2
4transcription elongation from RNA polymerase I promoterGO:00636210.2ERCC3, ERCC2
5nucleotide-excision repair, DNA incision, 5-to lesionGO:00629610.2ERCC1, ERCC4
6negative regulation of telomere maintenanceGO:03220510.2ERCC1, ERCC4
7response to UV-CGO:01022510.2ERCC5, POLH
8termination of RNA polymerase I transcriptionGO:00636310.2ERCC3, ERCC2
9transcription initiation from RNA polymerase I promoterGO:00636110.2ERCC2, ERCC3
10nucleotide-excision repair, DNA incisionGO:03368310.1ERCC2, ERCC4, ERCC3
11pyrimidine dimer repairGO:00629010.0DDB2, POLH, ERCC6
127-methylguanosine mRNA cappingGO:00637010.0ERCC2, ERCC3
13nucleotide-excision repair, DNA incision, 3-to lesionGO:00629510.0ERCC1, ERCC4, ERCC5
14DNA catabolic process, endonucleolyticGO:00073710.0ERCC5, ERCC4, ERCC1
15embryonic organ developmentGO:04856810.0ERCC1, TP53
16response to gamma radiationGO:01033210.0ERCC6, TP53
17transcription from RNA polymerase I promoterGO:00636010.0ERCC2, ERCC3
18DNA-dependent DNA replicationGO:0062619.9RPA1, POLH
19base-excision repairGO:0062849.9ERCC6, TP53
20response to X-rayGO:0101659.9ERCC6, ERCC1, TP53
21DNA recombinase assemblyGO:0007309.8RPA2, RPA1
22telomere maintenance via semi-conservative replicationGO:0322019.8RPA1, RPA2
23nucleotide-excision repair, DNA gap fillingGO:0062979.8RPA1, RPA2
24telomere maintenance via recombinationGO:0007229.7RPA1, RPA2
25telomere maintenanceGO:0007239.6RPA1, RPA2, ERCC4
26double-strand break repair via homologous recombinationGO:0007249.6ERCC4, RPA2, RPA1
27UV protectionGO:0096509.5ERCC5, ERCC2, ERCC4, ERCC1, ERCC3
28response to oxidative stressGO:0069799.5XPA, ERCC2, ERCC1, ERCC3, ERCC6
29DNA strand elongation involved in DNA replicationGO:0062719.4RPA1, RPA2
30response to UVGO:0094119.4DDB2, XPA, ERCC5, ERCC4, ERCC3, ERCC6
31multicellular organism growthGO:0352649.3TP53, XPA, ERCC2, ERCC1, ERCC6
32regulation of mitotic cell cycle phase transitionGO:19019909.3DDB1, XPC, ERCC2, ERCC3
33double-strand break repairGO:0063029.1TP53, RPA1, RPA2, ERCC1
34in utero embryonic developmentGO:0017019.0ERCC2, RPA1, TP53
35viral processGO:0160328.9DDB1, TP53, ERCC2, ERCC3
36transcription-coupled nucleotide-excision repairGO:0062838.3RPA1, RPA2, ERCC5, ERCC2, ERCC4, ERCC1
37nucleotide-excision repair, DNA damage removalGO:0007186.6XPA, RAD23B, ERCC5, ERCC2, ERCC4, ERCC1
38nucleotide-excision repairGO:0062896.0DDB1, DDB2, TP53, RPA1, RPA2, XPC
39DNA repairGO:0062815.5RPA2, XPC, XPA, RAD23B, ERCC5, ERCC2

Molecular functions related to Xeroderma Pigmentosum according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:00040510.2XPC, ERCC5
2TFIID-class transcription factor bindingGO:00109410.1ERCC1, ERCC4
3endodeoxyribonuclease activityGO:00452010.0ERCC5, ERCC4
4single-stranded DNA endodeoxyribonuclease activityGO:00001410.0ERCC4, ERCC1
5ATP-dependent DNA helicase activityGO:00400310.0ERCC3, ERCC2
6structure-specific DNA bindingGO:0435669.9ERCC4, ERCC1
7DNA-dependent ATPase activityGO:0080949.9ERCC6, ERCC3, ERCC2
8RNA polymerase II carboxy-terminal domain kinase activityGO:0083539.9ERCC3, ERCC2
9protein C-terminus bindingGO:0080229.4ERCC2, ERCC4, ERCC1, ERCC3, ERCC6
10protein N-terminus bindingGO:0474858.6TP53, RPA2, ERCC5, ERCC2, ERCC4, ERCC3
11single-stranded DNA bindingGO:0036978.3RPA1, RPA2, XPC, RAD23B, ERCC5, ERCC4
12DNA bindingGO:0036777.9DDB1, DDB2, TP53, ERCC2, ERCC3, ERCC6
13damaged DNA bindingGO:0036847.2ERCC3, DDB1, DDB2, TP53, POLH, XPC
14protein bindingGO:0055154.3RPA1, UVRAG, POLH, TP53, PTCH1, DDB2

Products for genes affiliated with Xeroderma Pigmentosum

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  • Antibodies
  • Proteins
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Sources for Xeroderma Pigmentosum

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet