XP
MCID: XRD001
MIFTS: 67

Xeroderma Pigmentosum (XP) malady

Summaries for Xeroderma Pigmentosum

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 cockayne syndrome and melanoma. An important gene associated with Xeroderma Pigmentosum is ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6), and among its related pathways are Nucleotide Excision Repair and Chks in Checkpoint Regulation. The compounds cisplatin and oligonucleotide have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and lung, and related mouse phenotypes are cellular and mortality/aging.

Disease Ontology:8 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:21 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:63 Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the... more...

Description from OMIM:46 278700, 278740, 610651, 278750, 278720 278780, 278730, 278760, 278800 more

GeneReviews summary for xp

Aliases & Classifications for Xeroderma Pigmentosum

About this section
Sources:
8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 46OMIM, 34MeSH
See all sources

Aliases & Descriptions:

xeroderma pigmentosum 8 63 19 42 20 22 21 10 44
de sanctis-cacchione syndrome 42 22 46
desanctis-cacchione syndrome 19 21
xp 42 21
xeroderma pigmentosa 42
xerodermic idiocy 42


External Ids:

Disease Ontology8 DOID:0050427
MeSH34 D014983

Related Diseases for Xeroderma Pigmentosum

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Xeroderma Pigmentosum, Variant Type family:

xeroderma pigmentosum Xeroderma Pigmentosum Type 7
Xeroderma Pigmentosum, Type 9 Xeroderma Pigmentosum, Type 1
Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 3
Xeroderma Pigmentosum, Type 5 Xeroderma Pigmentosum, Type 6
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 145)
idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome31.5XPA, XPC, DDB2, DDB1, RAD23B, ERCC6
2melanoma31.1XPC, DDB2, ERCC1, ERCC5, ERCC2, TP53
3squamous cell carcinoma31.1XPA, XPC, DDB2, POLH, ERCC4, ERCC1
4basal cell carcinoma31.0XPA, ERCC1, ERCC2, TP53
5lung cancer30.8ERCC6, ERCC1, ERCC2, TP53
6xeroderma pigmentosum, group d30.8ERCC2, ERCC3
7xeroderma pigmentosum, group e, ddb-negative subtype30.7XPC, DDB2, DDB1
8fanconi's anemia30.7ERCC2, ERCC4
9breast cancer30.6RPA2, RPA1, FEN1, XPC, DDB2, ERCC4
10ovarian cancer30.6XPA, ERCC1, ERCC3, ERCC2, TP53
11ataxia telangiectasia30.6RPA2, RPA1, XPA, TP53
12adenocarcinoma30.5XPA, XPC, ERCC4, ERCC1, ERCC2, TP53
13bloom syndrome30.4FEN1, RECQL
14colorectal cancer30.2FEN1, XPC, ERCC1, ERCC2, TP53
15leukemia30.2TP53, ERCC2, ERCC3, RPA1
16werner syndrome30.2RPA1, FEN1, RECQL
17esophageal cancer30.2TP53
18osteosarcoma30.2TP53, RPA1
19hepatocellular carcinoma30.2TP53, ERCC1, XPC
20testicular cancer30.2ERCC2, ERCC1
21sarcoma30.2TP53
22xeroderma pigmentosum, variant type10.7
23xeroderma pigmentosum, group a10.6
24angiosarcoma10.6
25xeroderma pigmentosum, group b10.6
26xeroderma pigmentosum, group c10.6
27xeroderma pigmentosum type 710.5
28xeroderma pigmentosum, group f10.5
29xeroderma pigmentosum, group g10.5
30herpes simplex10.4
31prostate cancer10.4
32prostatitis10.4
33chromosome xp deletion10.4
34fanconi syndrome10.4
35laryngitis10.4
36skin squamous cell carcinoma10.4
37neurologic diseases10.4
38cockayne syndrome type i10.4
39xeroderma pigmentosum, type 910.4
40xeroderma pigmentosum, type 110.4
41xpc-related xeroderma pigmentosum10.4
42ercc1-related xeroderma pigmentosum10.4
43deficiency anemia10.3
44progeria10.3
45complement deficiency10.3
46esophagitis10.3
47lung adenocarcinoma10.3
48pterygium10.3
49xeroderma pigmentosum, type 210.3
50xeroderma pigmentosum, type 310.3

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



Diseases related to xeroderma pigmentosum

Clinical Features for Xeroderma Pigmentosum

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

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

Clinical synopsis from OMIM:

278800

Drugs & Therapeutics for Xeroderma Pigmentosum

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Xeroderma Pigmentosum:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum20 22 XPC
2 Xeroderma Pigmentosum Multi-Gene Panels20
3 De Sanctis-Cacchione Syndrome22

Anatomical Context for Xeroderma Pigmentosum

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Xeroderma Pigmentosum:

32
Skin, Eye, Lung, Prostate, Breast, Tongue, Liver, B cells, Lymph node, Brain, Spinal cord, Testes

Animal Models for Xeroderma Pigmentosum or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Xeroderma Pigmentosum:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538411.2RPA1, FEN1, XPA, XPC, DDB2, DDB1
2MP:001076811.2DDB1, DDB2, XPC, XPA, FEN1, RPA1
3MP:000537811.1FEN1, XPA, XPC, DDB2, RAD23B, ERCC6
4MP:000538711.0RPA1, FEN1, XPA, POLH, RAD23B, ERCC6
5MP:001077111.0XPC, DDB2, POLH, ERCC6, ERCC1, ERCC3
6MP:000537510.9FEN1, XPA, RAD23B, ERCC6, ERCC1, ERCC2
7MP:000537010.8FEN1, XPA, ERCC6, ERCC4, ERCC1, ERCC5
8MP:000537610.8FEN1, XPA, XPC, RAD23B, RAD23A, ERCC6
9MP:000200610.8POLH, RPA1
10MP:000539110.6DDB1, RAD23B, ERCC6
11MP:000118610.6TP53, ERCC2, POLH, XPA
12MP:000537910.5ERCC3, ERCC2, TP53
13MP:000539710.5RPA1, FEN1, XPA, ERCC6, ERCC1, ERCC5

Publications for Xeroderma Pigmentosum

About this section
Sources:
50PubMed
See all sources

Articles related to Xeroderma Pigmentosum:

(show top 50)    (show all 662)
idTitleAuthorsYear
1
Basal cell carcinoma in a child with xeroderma pigmentosum: Clinical response with electron beam radiation therapy. (23760329)
2013
2
In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum. (24063568)
2013
3
Preclinical corrective gene transfer in xeroderma pigmentosum human skin stem cells. (22068429)
2012
4
Prenatal diagnosis of xeroderma pigmentosum group A in Japan. (22168765)
2012
5
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
6
Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature. (21684361)
2011
7
Dissection of the xeroderma pigmentosum group C protein function by site-directed mutagenesis. (20649465)
2011
8
Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. (19819090)
2010
9
Xeroderma pigmentosum: early diagnostic features and an adverse consequence of photoprotection. (19309384)
2009
10
X-ray repair cross-complementing group 4 (XRCC4) promoter -1394( *)T-related genotype, but not XRCC4 codon 247/intron 3 or xeroderma pigmentosum group D codon 312, 751/promoter -114, polymorphisms are correlated with higher susceptibility to myoma. (18177646)
2008
11
Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival. (18717677)
2008
12
Diagnosis of Xeroderma Pigmentosum and Related DNA Repair-Deficient Cutaneous Diseases. (22025901)
2008
13
The 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair. (18495558)
2008
14
Animal models of xeroderma pigmentosum. (19181121)
2008
15
Clinical features of xeroderma pigmentosum. (19181106)
2008
16
Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases. (18987743)
2008
17
Pterygium resection with conjunctival autograft in a young child with xeroderma pigmentosum. (19034135)
2008
18
Xeroderma pigmentosum. (18292171)
2008
19
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
20
On the search for skin gene therapy strategies of xeroderma pigmentosum disease. (17584035)
2007
21
Xeroderma pigmentosum group C gene expression is predominantly regulated by promoter hypermethylation and contributes to p53 mutation in lung cancers. (17325666)
2007
22
In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation. (17682058)
2007
23
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. (17179216)
2006
24
Xeroderma pigmentosum group D 751 polymorphism as a predictive factor in resected gastric cancer treated with chemo-radiotherapy. (17009404)
2006
25
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. (16947863)
2006
26
A patient with xeroderma pigmentosum treated with imiquimod 5% cream. (15627108)
2005
27
Xeroderma pigmentosum group a protein and chemotherapy resistance in human germ cell tumors. (14563950)
2003
28
Xeroderma pigmentosum variant and error-prone DNA polymerases. (14726018)
2003
29
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum variant patients. (11773631)
2002
30
Cell cycle deregulation and xeroderma pigmentosum group C cell transformation. (12485438)
2002
31
Enhanced spontaneous and aflatoxin-induced liver tumorigenesis in xeroderma pigmentosum group A gene-deficient mice. (11960916)
2002
32
The genetics of the hereditary xeroderma pigmentosum syndrome. (11900876)
2002
33
p53 and DNA damage-inducible expression of the xeroderma pigmentosum group C gene. (12242345)
2002
34
A molecular mechanism for DNA damage recognition by the xeroderma pigmentosum group C protein complex. (12509299)
2002
35
Cockayne syndrome and xeroderma pigmentosum. (11185579)
2000
36
Mast cells in an angiosarcoma complicating xeroderma pigmentosum in a 13-year-old girl. (11044816)
2000
37
Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation. (10886156)
2000
38
Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells. (9252397)
1997
39
Characterization of SV40-transformed xeroderma pigmentosum cell lines for their usability in HPRT mutation studies. (9379920)
1997
40
Mutation and expression of the XPA gene in revertants and hybrids of a xeroderma pigmentosum cell line. (7974007)
1994
41
Purification and cloning of a nucleotide excision repair complex involving the Xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. (8168482)
1994
42
Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5. (8483505)
1993
43
Induction of proliferating cell nuclear antigen (PCNA) complex formation in quiescent fibroblasts from a xeroderma pigmentosum patient. (1346402)
1992
44
Induction of the 72-kD heat shock protein in xeroderma pigmentosum complementation group A fibroblasts. (1431227)
1992
45
Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes. (1649389)
1991
46
Reactivation of psoralen-reacted plasmid DNA in Fanconi anemia, xeroderma pigmentosum, and normal human fibroblast cells. (2047939)
1991
47
Expression of the cDNA for the beta subunit of human casein kinase II confers partial UV resistance on xeroderma pigmentosum cells. (1694965)
1990
48
Comparative studies of host-cell reactivation, cellular capacity and enhanced reactivation of herpes simplex virus in normal, xeroderma pigmentosum and Cockayne syndrome fibroblasts. (3014327)
1986
49
Inhibition of DNA synthesis by psoralen-induced lesions in xeroderma pigmentosum and Fanconi's anemia fibroblasts. (4011708)
1985
50
Aminoaciduria in xeroderma pigmentosum. (4185294)
1968

Genetic Variations for Xeroderma Pigmentosum

About this section

Expression for genes affiliated with Xeroderma Pigmentosum

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 51QIAGEN, 29KEGG, 4Cell Signaling Technology, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB
See all sources

Pathways related to Xeroderma Pigmentosum according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.0XPC, DDB2, DDB1, POLH, RAD23B, ERCC6
2
Hide members
10.9XPC, POLH, RAD23B, ERCC6, ERCC4, ERCC1
3
Hide members
10.9RPA2, XPC, DDB2, DDB1, RAD23B, RAD23A
4
Hide members
10.8RPA2, RPA1, FEN1, XPC, DDB2, DDB1
5
Hide members
10.7ERCC6, ERCC4, ERCC1, ERCC3, ERCC5, ERCC2
6
Transcription P53 signaling pathway
Hide members
10.7XPA, XPC, ERCC3, ERCC2, TP53
710.6RPA2, RPA1, POLH, ERCC4, ERCC1
8
Hide members
10.6CETN2, FEN1, RPA1, RPA2
9
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
10.6XPC, DDB2, TP53
10
Hide members
10.6TP53, DDB2, RPA2
11
Hide members
10.6FEN1, RPA1, RPA2
12
Hide members
10.6FEN1, RPA1, RPA2
13
Hide members
10.6RPA2, RPA1, FEN1
1410.5RAD23B, XPC
1510.5TP53, ERCC2
16
Hide members
10.5TP53, ERCC2
17
Hide members
10.5RPA1, RPA2
18
Hide members
10.5RPA2, RPA1

Compounds for genes affiliated with Xeroderma Pigmentosum

About this section
Sources:
44Novoseek, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 28IUPHAR, 24HMDB
See all sources

Compounds related to Xeroderma Pigmentosum according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1cisplatin44 49 59 1114.3TP53, RPA1, FEN1, XPA, XPC, DDB2
2oligonucleotide4411.1RPA2, RPA1, FEN1, XPA, XPC, ERCC1
3atp44 2812.1RPA1, FEN1, XPA, XPC, RECQL, ERCC6
4melphalan44 1112.1ERCC4, ERCC1, ERCC3, ERCC2, TP53
5thymidylate4411.0RPA1, ERCC4, ERCC1, ERCC2, TP53
6cpds4411.0RPA1, XPA, DDB2, ERCC3
75fluorouracil4411.0FEN1, ERCC4, ERCC1, ERCC2, TP53
8benzo(a)pyrene4411.0XPA, XPC, ERCC1, TP53
9oxaliplatin44 49 1113.0XPA, ERCC1, ERCC2, TP53
10mitomycin c4411.0XPA, ERCC4, ERCC1, TP53
11psoralen4411.0ERCC1, ERCC4, XPA
12cyclophosphamide44 49 1113.0TP53, ERCC2, ERCC1, ERCC4
13bcnu4410.9TP53, ERCC2, ERCC1
14platinum44 4911.9POLH, ERCC1, ERCC2
15methylmethanesulfonate4410.9TP53, FEN1, RPA1
16etoposide44 49 59 1113.9TP53, ERCC1, RPA1, RPA2
17n-acetoxy-2-acetylaminofluorene4410.9ERCC1, TP53
18adozelesin4410.9RPA2, TP53
19sarcnu4410.9TP53, ERCC2
20thymine glycol4410.9ERCC5, ERCC6
21magnesium44 11 2412.8FEN1, POLH, RECQL, ERCC4, ERCC2
22ecteinascidin 7434410.8ERCC5, ERCC2
232-acetylaminofluorene4410.8XPA, XPC
24irinotecan44 49 1112.8TP53, ERCC2, ERCC1
25platinum compounds4910.8ERCC1, ERCC2
26rpa 24410.8RPA2, RPA1
27gemcitabine44 49 1112.8TP53, ERCC2, ERCC1
28hydroxyurea44 49 1112.7RPA2, RPA1, TP53
297-hydroxystaurosporine44 1111.7TP53, RPA2
30vincristine44 49 1112.6TP53, ERCC2, ERCC1
31phosphodiester4410.6ERCC5, ERCC3
32bpde4410.5TP53, RPA1
33docetaxel44 49 59 1113.5ERCC1, ERCC2, TP53
34camptothecin44 59 1112.3TP53, RPA1, RPA2

GO Terms for genes affiliated with Xeroderma Pigmentosum

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Xeroderma Pigmentosum according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00563411.3POLH, DDB1, XPC, XPA, FEN1, RPA1
2nucleoplasmGO:00565411.3TP53, RPA2, RPA1, FEN1, XPA, XPC
3nucleolusGO:00573010.9RPA2, RPA1, FEN1, POLH, RECQL, RAD23B
4XPC complexGO:07194210.8XPC, RAD23B, CETN2
5holo TFIIH complexGO:00567510.8ERCC2, ERCC5, ERCC3
6transcription factor TFIID complexGO:00566910.7ERCC4, ERCC1, TP53
7SSL2-core TFIIH complexGO:00044110.6ERCC2, ERCC3
8nucleotide-excision repair complexGO:00010910.5ERCC4, ERCC1
9nuclear chromosome, telomeric regionGO:00078410.5ERCC1, ERCC4
10DNA replication factor A complexGO:00566210.4RPA1, RPA2
11PML bodyGO:01660510.3TP53, RPA1, RPA2

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

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1DNA repairGO:00628111.5ERCC2, DDB2, DDB1, POLH, UVRAG, RECQL
2nucleotide-excision repairGO:00628911.4RPA2, RPA1, XPA, XPC, DDB2, DDB1
3nucleotide-excision repair, DNA damage removalGO:00071811.3RAD23B, ERCC4, ERCC1, ERCC3, ERCC5, ERCC2
4transcription-coupled nucleotide-excision repairGO:00628311.2RPA2, RPA1, ERCC6, ERCC4, ERCC1, ERCC3
5response to UVGO:00941111.1XPA, DDB2, ERCC6, ERCC4, ERCC3, ERCC5
6UV protectionGO:00965011.1FEN1, ERCC4, ERCC1, ERCC3, ERCC5, ERCC2
7multicellular organism growthGO:03526411.0XPA, ERCC6, ERCC1, ERCC2, TP53
8response to oxidative stressGO:00697911.0XPA, ERCC6, ERCC1, ERCC3, ERCC2
9double-strand break repairGO:00630211.0RPA2, RPA1, FEN1, ERCC1, TP53
10regulation of mitotic cell cycle phase transitionGO:190199011.0XPC, DDB1, ERCC3, ERCC2
11DNA replicationGO:00626011.0RPA2, RPA1, FEN1, POLH, RECQL
12nucleotide-excision repair, DNA incision, 3-to lesionGO:00629511.0ERCC4, ERCC1, ERCC5
13nucleotide-excision repair, DNA incisionGO:03368311.0ERCC4, ERCC3, ERCC2
14telomere maintenanceGO:00072311.0RPA2, RPA1, FEN1, ERCC4
15pyrimidine dimer repairGO:00629011.0DDB2, POLH, ERCC6
16response to X-rayGO:01016510.9TP53, ERCC1, ERCC6
17modulation by virus of host morphology or physiologyGO:01904810.9DDB1, RAD23A, ERCC3, ERCC2, TP53
18telomere maintenance via semi-conservative replicationGO:03220110.9RPA2, RPA1, FEN1
19telomere maintenance via recombinationGO:00072210.9FEN1, RPA1, RPA2
20DNA strand elongation involved in DNA replicationGO:00627110.9RPA2, RPA1, FEN1
21base-excision repairGO:00628410.9TP53, ERCC6, FEN1
22nucleotide-excision repair, DNA damage recognitionGO:00071510.9RAD23B, XPC
23nucleotide-excision repair, DNA incision, 5-to lesionGO:00629610.8ERCC1, ERCC4
24double-strand break repair via homologous recombinationGO:00072410.8RPA2, RPA1, ERCC4
25negative regulation of telomere maintenanceGO:03220510.8ERCC1, ERCC4
26DNA recombinase assemblyGO:00073010.8RPA1, RPA2
27hair cell differentiationGO:03531510.8ERCC2, ERCC3
28proteasomal ubiquitin-dependent protein catabolic processGO:04316110.7RAD23A, RAD23B, DDB1
29regulation of proteasomal ubiquitin-dependent protein catabolic processGO:03243410.7RAD23B, RAD23A
30DNA strand renaturationGO:00073310.7RECQL, TP53
31DNA recombinationGO:00631010.7ERCC1, RECQL, RPA1
32response to UV-CGO:01022510.6POLH, ERCC5
33response to UV-BGO:01022410.6XPC, ERCC6
34termination of RNA polymerase I transcriptionGO:00636310.6ERCC2, ERCC3
35DNA-dependent DNA replicationGO:00626110.4RPA1, RPA2
36transcription elongation from RNA polymerase I promoterGO:00636210.3ERCC2, ERCC3

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.4UVRAG, POLH, DDB1, DDB2, XPC, XPA
2damaged DNA bindingGO:00368411.2TP53, FEN1, XPA, XPC, ERCC3, ERCC1
3single-stranded DNA bindingGO:00369711.0ERCC5, ERCC1, ERCC4, RAD23A, RAD23B, XPC
4protein N-terminus bindingGO:04748511.0RPA2, ERCC6, ERCC4, ERCC3, ERCC5, ERCC2
5protein C-terminus bindingGO:00802210.9ERCC6, ERCC4, ERCC1, ERCC3, ERCC2
6DNA bindingGO:00367710.9FEN1, DDB2, DDB1, RECQL, ERCC6, ERCC3
7ATP-dependent DNA helicase activityGO:00400310.8RECQL, ERCC3, ERCC2
8TFIID-class transcription factor bindingGO:00109410.8ERCC1, ERCC4
9DNA-dependent ATPase activityGO:00809410.8ERCC2, ERCC3, ERCC6
10single-stranded DNA endodeoxyribonuclease activityGO:00001410.6ERCC1
11bubble DNA bindingGO:00040510.6ERCC5, XPC
12structure-specific DNA bindingGO:04356610.5ERCC4, ERCC1
13DNA helicase activityGO:00367810.5ERCC6, RECQL
14endodeoxyribonuclease activityGO:00452010.5ERCC4, ERCC5
15RNA polymerase II carboxy-terminal domain kinase activityGO:00835310.3ERCC2, ERCC3

Products for genes affiliated with Xeroderma Pigmentosum

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Xeroderma Pigmentosum

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet