CS
MCID: CCK001
MIFTS: 61

Cockayne Syndrome (CS) malady

Ear diseases category

Summaries for Cockayne Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. this syndrome also includes failure to thrive in the neonate, microcephaly, and impaired nervous system development. other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.  cockayne syndrome type 1 (type a) is sometimes called “classic” cockayne syndrome and is diagnosed during early childhood. cockayne syndrome type 2 (type b) is sometimes referred to as the “connatal” type. this type is a more severe form in which growth and developmental abnormalities are present at birth. the third type, cockayne syndrome type 3 (type c) is a milder form of the disorder. cockayne syndrome is caused by mutations ineither the ercc8 (csa) or ercc6 (csb) genes and is inherited in an autosomal recessive pattern. individuals with type 1 or 2 usually do not survive past childhood, whereas those with type 3 live into adulthood. last updated: 5/31/2011

MalaCards: Cockayne Syndrome, also known as dwarfism-retinal atrophy-deafness syndrome, is related to xeroderma pigmentosum and progeria. An important gene associated with Cockayne Syndrome is ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8), and among its related pathways are Chromatin Regulation / Acetylation and RNA Polymerase I Chain Elongation. The compounds thymine glycol and 8-hydroxyadenine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone, and related mouse phenotypes are tumorigenesis and integument.

Disease Ontology:8 An autosomal recessive disease that is caused by rare mutations in two dna excision repair proteins, ercc-8 and ercc-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.

Genetics Home Reference:21 Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected individuals have an extreme sensitivity to sunlight (photosensitivity), and even a small amount of sun exposure can cause a sunburn. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the brain that can be seen on brain scans.

Wikipedia:63 Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal... more...

Description from OMIM:46 133540,216400

GeneReviews summary for cockayne

Aliases & Classifications for Cockayne Syndrome

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 20GeneTests, 39NCIt, 34MeSH, 46OMIM, 56SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear diseases


Aliases & Descriptions:

cockayne syndrome 8 63 19 42 21 10 44 60
dwarfism-retinal atrophy-deafness syndrome 63 42 21
progeria-like syndrome 63 42 21
progeroid nanism 63 42 21
opitz trigonocephaly syndrome 42 60
cockayne's syndrome 42 20
cs 63 21
trigonocephaly c syndrome 42
neill-dingwall syndrome 63
trigonocephaly syndrome 42
trigonocephaly 44
c syndrome 42


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Disease Ontology8 DOID:2962
NCIt39 C9460
SNOMED-CT56 21086008, 205832003
MeSH34 D003057

Related Diseases for Cockayne Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Cockayne Syndrome Type Ii family:

cockayne syndrome Cockayne Syndrome Type I
Cockayne Syndrome Type Iii Ercc8-Related Cockayne Syndrome
Ercc6-Related Cockayne Syndrome

Diseases related to Cockayne Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 199)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.3OGG1, HELLS, XPA, XPC, DDB1, POLR2L
2progeria30.3HELLS, PGBD3
3hepatitis29.9HELLS
4cataract29.9DNAH8
5lung cancer29.9OGG1, ERCC6, ERCC1, ERCC2
6fanconi's anemia29.9ERCC2, ERCC4, HELLS
7xeroderma pigmentosum, group d29.9ERCC2, ERCC3
8ataxia telangiectasia29.9HELLS, XPA
9leukemia29.7OGG1, HELLS, POLR2L, DNAH8, ERCC3, ERCC2
10cockayne syndrome type i10.6
11cockayne syndrome type ii10.6
12cockayne syndrome type iii10.5
13trigonocephaly 110.3
14adult syndrome10.3
15synostosis10.2
16say meyer syndrome10.2
17trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet10.2
18trigonocephaly 210.2
19neuropathy10.2
20cerebro-oculo-facio-skeletal syndrome10.2
21cushing's syndrome10.1
22kennedy's disease10.1
23critical illness polyneuropathy10.1
24guanidinoacetate methyltransferase deficiency10.1
25amyotrophic lateral sclerosis10.1
26endocarditis10.1
27malaria10.1
28myopathy10.1
29neuromuscular disease10.1
30poliomyelitis10.1
31spinal-bulbar muscular atrophy10.1
32mitochondrial cardiomyopathy10.1
33insulin resistance10.1
34cerebritis10.1
35hypertension10.1
36ischemia10.1
37peripheral neuropathy10.1
38epidermolysis bullosa simplex, localized10.1
39ercc8-related cockayne syndrome10.1
40ercc6-related cockayne syndrome10.1
41xeroderma pigmentosum, group g/cockayne syndrome10.1
42xeroderma pigmentosum, group f10.1
43xeroderma pigmentosum, type f/cockayne syndrome10.1
44cerebrooculofacioskeletal syndrome 410.1
45cerebrooculofacioskeletal syndrome 210.1
46polysyndactyly trigonocephaly agenesis of corpus callosum10.1
47trigonocephaly - broad thumbs10.1
48calciphylaxis10.1
49chagas disease10.1
50osteoarthritis10.1

Graphical network of the top 20 diseases related to Cockayne Syndrome:



Diseases related to cockayne syndrome

Clinical Features for Cockayne Syndrome

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46OMIM
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Clinical features from OMIM:

133540,216400

Drugs & Therapeutics for Cockayne Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cockayne Syndrome

Drug clinical trials:

Search ClinicalTrials for Cockayne Syndrome

Search NIH Clinical Center for Cockayne Syndrome

Search CenterWatch for Cockayne Syndrome

Genetic Tests for Cockayne Syndrome

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20GeneTests
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Genetic tests related to Cockayne Syndrome:

id Genetic test Affiliating Genes
1 Cockayne Syndrome20 ERCC8

Anatomical Context for Cockayne Syndrome

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32MalaCards
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MalaCards organs/tissues related to Cockayne Syndrome:

32
Eye, Brain, Bone, B cells, Skin, Lung, Testes, T cells, Fetal brain

Animal Models for Cockayne Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cockayne Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200610.6HMGN1
2MP:001077110.5XPC, HMGN1, ERCC6, ERCC1, ERCC8, ERCC3
3MP:000537510.4ERCC2, ERCC1, ERCC6, XPA, HELLS
4MP:001076810.4OGG1, HELLS, XPA, XPC, DDB1, XAB2
5MP:000537810.3HELLS, XPA, XPC, ERCC6, ERCC4, ERCC1
6MP:000538410.3OGG1, HELLS, XPA, XPC, DDB1, HMGN1
7MP:000537010.3OGG1, XPA, ERCC6, ERCC4, ERCC1, ERCC5
8MP:000539710.1OGG1, HELLS, XPA, ERCC6, ERCC1, ERCC8

Publications for Cockayne Syndrome

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50PubMed
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Articles related to Cockayne Syndrome:

(show top 50)    (show all 331)
idTitleAuthorsYear
1
Special issue on the segmental progeria Cockayne syndrome. (23584053)
2013
2
Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit. (24354460)
2013
3
Dermatologic findings in 16 patients with cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. (24154677)
2013
4
Mitochondrial deficiency in Cockayne syndrome. (23435289)
2013
5
An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress. (22404840)
2012
6
Interaction between the Cockayne syndrome B and p53 proteins: implications for aging. (22383384)
2012
7
Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome. (21477668)
2011
8
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. (21143350)
2011
9
A ubiquitin-binding domain in cockayne syndrome B required for transcription-coupled nucleotide excision repair. (20541997)
2010
10
Defective repair of 5-hydroxy-2'-deoxycytidine in Cockayne syndrome cells and its complementation by Escherichia coli formamidopyrimidine DNA glycosylase and endonuclease III. (20026203)
2010
11
The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging. (18541289)
2008
12
Xeroderma pigmentosum: its overlap with trichothiodystrophy, Cockayne syndrome and other progeroid syndromes. (19181118)
2008
13
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. (17276014)
2007
14
Aortic dilatation in Cockayne syndrome. (17935247)
2007
15
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. (17084038)
2007
16
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. (16129663)
2006
17
Cockayne syndrome in adults: review with clinical and pathologic study of a new case. (17092472)
2006
18
Cockayne syndrome with recurrent acute tubulointerstitial nephritis. (17040291)
2006
19
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. (16135823)
2005
20
Potassium bromate but not X-rays cause unexpectedly elevated levels of DNA breakage similar to those induced by ultraviolet light in Cockayne syndrome (CS-B) fibroblasts. (15162034)
2004
21
The many faces of Cockayne syndrome. (15494443)
2004
22
Three novel mutations responsible for Cockayne syndrome group A. (12655141)
2003
23
Spinal anaesthesia for caesarean section in a patient with Cockayne syndrome. (15321464)
2003
24
The gene expression and deficiency phenotypes of Cockayne syndrome B protein in Caenorhabditis elegans. (12095617)
2002
25
Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription-coupled DNA repair. (11782547)
2002
26
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. (11228268)
2001
27
Cockayne syndrome. (11310397)
2000
28
Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. (9565609)
1998
29
Enhancement of XPG mRNA expression by human interferon-beta in Cockayne syndrome cells. (9678065)
1998
30
In our parents' shadow. Cockayne syndrome. (9887835)
1998
31
An adult case of Cockayne syndrome without sclerotic angiopathy. (9260774)
1997
32
The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex. (9312053)
1997
33
Cockayne syndrome group B protein enhances elongation by RNA polymerase II. (9326587)
1997
34
A difference in the pattern of repair in a large genomic region in UV-irradiated normal human and Cockayne syndrome cells. (9447234)
1997
35
Nifedipine-induced transient cerebral ischemia in a child with Cockayne syndrome. (9485990)
1997
36
Impaired jun-NH2-terminal kinase activation by ultraviolet irradiation in fibroblasts of patients with Cockayne syndrome complementation group B. (8780897)
1996
37
UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. (8876179)
1996
38
Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype. (8566949)
1996
39
Cockayne syndrome: a case report. (7810287)
1994
40
Essential role of polyamines in restoration of DNA synthesis after UV radiation and expression of UV resistance in Cockayne syndrome cells. (7802627)
1994
41
Ocular findings in Cockayne syndrome. (1443019)
1992
42
Insusceptibility of Cockayne syndrome-derived lymphocytes to plasminogen activator-like protease induction by ultraviolet rays and its abolition by interferon. (1705660)
1991
43
Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)). (1951442)
1991
44
Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. (2478446)
1989
45
Serum lipid and lipoprotein levels in premature ageing syndromes: total lipodystrophy and Cockayne syndrome. (3800489)
1986
46
Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings. (4031953)
1985
47
Eccrine sweat gland anatomy in cockayne syndrome: a possible diagnostic aid. (6687286)
1983
48
Three complementation groups in Cockayne syndrome. (6185841)
1982
49
Cockayne syndrome in siblings (Clinico-pathological study). (7342395)
1981
50
Host-cell reactivation of UV-irradiated adenovirus in Cockayne syndrome. (514294)
1979

Genetic Variations for Cockayne Syndrome

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Expression for genes affiliated with Cockayne Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cockayne Syndrome

Search GEO for disease gene expression data for Cockayne Syndrome.

Pathways for genes affiliated with Cockayne Syndrome

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4Cell Signaling Technology, 53Reactome, 12EMD Millipore, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4HELLS, HMGN1, ERCC3, ERCC2
2
Hide members
10.4GTF2H4, GTF2H2, ERCC2, ERCC3
3
Hide members
10.4XPC, DDB1, ERCC1, ERCC3, ERCC2
4
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
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10.4POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
5
Hide members
10.4POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
6
Hide members
10.4POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
7
Hide members
10.4POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
810.4GTF2H4, GTF2H2, ERCC2, ERCC3, POLR2L
9
Hide members
10.4GTF2H4, GTF2H2, ERCC2, ERCC3, POLR2L
10
Transcription P53 signaling pathway
Hide members
10.4XPA, XPC, ERCC3, ERCC2, GTF2H2, GTF2H4
11
Hide members
10.3POLR2L, XAB2, ERCC3, ERCC2, GTF2H2, GTF2H4
12
Hide members
10.3OGG1, XPA, XPC, XAB2, ERCC6, ERCC4
13
Hide members
10.3ERCC6, ERCC4, ERCC1, ERCC8, ERCC3, ERCC5
14
Hide members
10.3XPA, XPC, DDB1, ERCC6, ERCC4, ERCC1
15
Hide members
10.2XAB2, ERCC6, ERCC4, ERCC1, ERCC8, ERCC3

Compounds for genes affiliated with Cockayne Syndrome

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1thymine glycol4410.8OGG1, POLR2L, ERCC6, ERCC5
28-hydroxyadenine4410.8OGG1, HELLS, ERCC6
3phosphodiester4410.8OGG1, POLR2L, ERCC3, ERCC5
48-hydroxyguanine4410.8ERCC6, HELLS, OGG1
58-oxoguanine4410.8ERCC6, POLR2L, HELLS, OGG1
6psoralen4410.7ERCC1, ERCC4, XPA
7benzo(a)pyrene4410.7HELLS, XPA, XPC, ERCC1
8melphalan44 1111.7ERCC4, ERCC1, ERCC3, ERCC2
9thymidylate4410.7HELLS, POLR2L, ERCC4, ERCC1, ERCC2
10amp-pnp44 2811.7GTF2H4, DNAH8, HELLS
11thymine44 2411.7XPC, HELLS, OGG1
12adenine44 11 2412.7OGG1, HELLS, POLR2L, DNAH8
13cpds4410.6ERCC3, XPA
14oligonucleotide4410.6OGG1, HELLS, XPA, XPC, POLR2L, ERCC1
15cisplatin44 49 59 1113.6GTF2H2, HELLS, XPA, XPC, DDB1, POLR2L
16glycerol44 11 2412.6HELLS, POLR2L, DNAH8, ERCC1
17atp44 2811.6XPC, XPA, HELLS, OGG1, POLR2L, DNAH8
18oxaliplatin44 49 1112.6ERCC2, ERCC1, XPA
19ecteinascidin 7434410.6ERCC5, ERCC2
20platinum compounds4910.6ERCC2, ERCC1
21zinc44 2411.6OGG1, HELLS, XPA, DDB1, POLR2L, GTF2H2
222-acetylaminofluorene4410.5XPC, XPA
23doxorubicin44 49 1112.4ERCC1, DNAH8, POLR2L, HELLS
24cysteine4410.3OGG1, HELLS, XPA, DDB1, POLR2L, DNAH8
25mitomycin c4410.3ERCC1, ERCC4, XPA
26atpgammas4410.1HELLS, DNAH8

GO Terms for genes affiliated with Cockayne Syndrome

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16Gene Ontology
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Cellular components related to Cockayne Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair complexGO:00010910.6ERCC8, ERCC1, ERCC4
2holo TFIIH complexGO:00567510.6ERCC3, ERCC5, ERCC2, GTF2H2, GTF2H4
3SSL2-core TFIIH complexGO:00044110.5ERCC3, ERCC2
4transcription factor TFIID complexGO:00566910.4ERCC1, ERCC4
5core TFIIH complexGO:00043910.4GTF2H4, GTF2H2
6nucleoplasmGO:00565410.4GTF2H4, OGG1, XPA, XPC, DDB1, POLR2L
7Cul4A-RING ubiquitin ligase complexGO:03146410.3ERCC8, DDB1
8nucleusGO:00563410.3POLR2L, DDB1, XPC, XPA, HELLS, OGG1
9nuclear chromosome, telomeric regionGO:00078410.1ERCC1, ERCC4

Biological processes related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1UV protectionGO:00965010.8ERCC4, ERCC1, ERCC3, ERCC5, ERCC2
2regulation of mitotic cell cycle phase transitionGO:190199010.8ERCC2, ERCC3, DDB1, XPC
3nucleotide-excision repair, DNA incision, 3-to lesionGO:00629510.7ERCC4, ERCC1, ERCC5
4response to UVGO:00941110.7XPA, ERCC6, ERCC4, ERCC8, ERCC3, ERCC5
5response to oxidative stressGO:00697910.7OGG1, XPA, ERCC6, ERCC1, ERCC8, ERCC3
6transcription elongation from RNA polymerase I promoterGO:00636210.7ERCC3, ERCC2, GTF2H2, GTF2H4
77-methylguanosine mRNA cappingGO:00637010.7POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
8positive regulation of viral transcriptionGO:05043410.7GTF2H4, GTF2H2, ERCC2, ERCC3, POLR2L
9termination of RNA polymerase I transcriptionGO:00636310.7GTF2H4, GTF2H2, ERCC2, ERCC3
10nucleotide-excision repair, DNA incisionGO:03368310.7ERCC4, ERCC3, ERCC2
11transcription elongation from RNA polymerase II promoterGO:00636810.7POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
12transcription initiation from RNA polymerase I promoterGO:00636110.7GTF2H4, GTF2H2, ERCC2, ERCC3
13response to UV-BGO:01022410.7ERCC6, HMGN1, XPC
14transcription from RNA polymerase I promoterGO:00636010.7ERCC3, ERCC2, GTF2H2, GTF2H4
15nucleotide-excision repair, DNA damage removalGO:00071810.7XPA, XPC, DDB1, ERCC4, ERCC1, ERCC3
16multicellular organism growthGO:03526410.7ERCC2, ERCC1, ERCC6, XPA
17response to X-rayGO:01016510.6ERCC8, ERCC1, ERCC6
18transcription-coupled nucleotide-excision repairGO:00628310.6ERCC4, ERCC1, ERCC8, ERCC3, ERCC5, ERCC2
19transcription from RNA polymerase II promoterGO:00636610.6POLR2L, ERCC6, ERCC3, ERCC2, GTF2H2, GTF2H4
20transcription initiation from RNA polymerase II promoterGO:00636710.6POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
21pyrimidine dimer repair by nucleotide-excision repairGO:00072010.6ERCC1, HMGN1
22nucleotide-excision repairGO:00628910.6OGG1, XPA, XPC, DDB1, POLR2L, XAB2
23DNA repairGO:00628110.6GTF2H4, DDB1, POLR2L, XAB2, ERCC6, ERCC4
24nucleotide-excision repair, DNA incision, 5-to lesionGO:00629610.6ERCC1, ERCC4
25viral processGO:01603210.5POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
26negative regulation of telomere maintenanceGO:03220510.5ERCC1, ERCC4
27hair cell differentiationGO:03531510.4ERCC3, ERCC2
28gene expressionGO:01046710.4ERCC3, ERCC2, GTF2H2, GTF2H4, POLR2L
29positive regulation of DNA-dependent transcription, elongationGO:03278610.3ERCC6, HMGN1
30response to UV-CGO:01022510.1ERCC5, HMGN1

Molecular functions related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1DNA-dependent ATPase activityGO:00809410.7ERCC6, ERCC8, ERCC3, ERCC2, GTF2H2, GTF2H4
2RNA polymerase II carboxy-terminal domain kinase activityGO:00835310.7GTF2H4, GTF2H2, ERCC2, ERCC3
3protein N-terminus bindingGO:04748510.7ERCC6, ERCC4, ERCC3, ERCC5, ERCC2, GTF2H2
4protein C-terminus bindingGO:00802210.7ERCC6, ERCC4, ERCC1, ERCC3, ERCC2
5damaged DNA bindingGO:00368410.6ERCC3, OGG1, XPA, XPC, DDB1, ERCC4
6TFIID-class transcription factor bindingGO:00109410.6ERCC1, ERCC4
7single-stranded DNA bindingGO:00369710.6XPC, ERCC4, ERCC1, ERCC5
8ATP-dependent DNA helicase activityGO:00400310.6GTF2H4, ERCC2, ERCC3
9single-stranded DNA endodeoxyribonuclease activityGO:00001410.6ERCC1
10protein kinase activityGO:00467210.5ERCC3, ERCC2, GTF2H2, GTF2H4
11bubble DNA bindingGO:00040510.5ERCC5, XPC
12DNA helicase activityGO:00367810.5ERCC8, ERCC6
13structure-specific DNA bindingGO:04356610.4ERCC4, ERCC1
14protein bindingGO:00551510.4OGG1, HELLS, XPA, XPC, DDB1, XAB2
15endodeoxyribonuclease activityGO:00452010.3ERCC4, ERCC5
16DNA bindingGO:00367710.0HELLS, DDB1, POLR2L, HMGN1, ERCC6, ERCC3

Products for genes affiliated with Cockayne Syndrome

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Sources for Cockayne Syndrome

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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