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MCID: CCK001
MIFTS: 63

Cockayne Syndrome

Categories: Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cockayne Syndrome

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MalaCards integrated aliases for Cockayne Syndrome:

Name: Cockayne Syndrome 12 76 24 53 25 59 37 29 55 6 44 15 73
Cockayne's Syndrome 12 76 53
Dwarfism-Retinal Atrophy-Deafness Syndrome 53 25
Neill-Dingwall Syndrome 12
Progeria-Like Syndrome 53
Progeroid Nanism 53
Cs 25

Characteristics:

Orphanet epidemiological data:

59
cockayne syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Cockayne Syndrome

About this section
NIH Rare Diseases : 53 Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities. There are three subtypes according to the severity of the disease and the onset of the symptoms:Cockayne syndrome type 1 (type A), sometimes called “classic” or "moderate" Cockayne syndrome, diagnosed during early childhood Cockayne syndrome type 2 (type B), sometimes referred to as the “severe” or "early-onset" type, presenting with growth and developmental abnormalities at birth Cockayne syndrome type 3 (type C), a milder form of the disorder  Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes. Inheritance is  autosomal recessive. Type 2 is the most severe and affected people usually do not survive past childhood. Those with type 3 live into middle adulthood. There is no cure yet. Treatment is supportive and may include educational programs for developmental delay, physical therapy, gastrostomy tube placement as needed; medications for spasticity and tremor as needed; use of sunscreens and sunglasses; treatment of hearing loss and cataracts; and other forms of treatment, as needed.

MalaCards based summary : Cockayne Syndrome, also known as cockayne's syndrome, is related to cockayne syndrome type iii and cockayne syndrome type i. An important gene associated with Cockayne Syndrome is ERCC1 (ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit), and among its related pathways/superpathways are Nucleotide excision repair and DNA Double-Strand Break Repair. The drugs Mannitol and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin, and related phenotypes are cryptorchidism and nephrotic syndrome

Disease Ontology : 12 An autosomal recessive disease that has material basis in 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 : 25 Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.

Wikipedia : 76 Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive... more...

GeneReviews: NBK1342
Sources

Related Diseases for Cockayne Syndrome

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Diseases in the Cockayne Syndrome family:

Cockayne Syndrome B Cockayne Syndrome a
Cockayne Syndrome Type I Cockayne Syndrome Type Ii
Cockayne Syndrome Type Iii

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome type iii 34.7 ERCC6 ERCC8
2 cockayne syndrome type i 34.6 ERCC4 ERCC6 ERCC8
3 cockayne syndrome type ii 34.5 ERCC1 ERCC6 ERCC8
4 cockayne syndrome b 34.1 ERCC2 ERCC6 ERCC8 XPA
5 cockayne syndrome a 34.0 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8
6 xeroderma pigmentosum, complementation group b 32.6 ERCC1 ERCC2 ERCC3 XPA
7 cerebrooculofacioskeletal syndrome 1 32.5 ERCC2 ERCC5 ERCC6
8 xeroderma pigmentosum, complementation group d 32.2 ERCC1 ERCC2 ERCC3 XPA
9 xeroderma pigmentosum, complementation group g 32.1 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
10 xeroderma pigmentosum, complementation group f 32.0 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
11 cerebro-oculo-facio-skeletal syndrome 31.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
12 xeroderma pigmentosum, complementation group c 29.5 DDB2 ERCC3 XPA XPC
13 uv-sensitive syndrome 29.1 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 PGBD3
14 fanconi anemia, complementation group a 28.9 ERCC1 ERCC2 ERCC4 HELLS HPRT1
15 xeroderma pigmentosum group e 28.9 DDB1 DDB2 ERCC1 XPA XPC
16 xeroderma pigmentosum, variant type 26.8 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
17 cowden syndrome 1 11.7
18 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome 11.2
19 epidermolysis bullosa simplex, localized 11.0
20 cerebrooculofacioskeletal syndrome 3 11.0
21 congenital intrauterine infection-like syndrome 11.0
22 progeroid short stature with pigmented nevi 10.8
23 flynn-aird syndrome 10.8
24 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification 10.8
25 cerebrooculofacioskeletal syndrome 2 10.8
26 cerebrooculofacioskeletal syndrome 4 10.8
27 uv-sensitive syndrome 2 10.8
28 premature ovarian failure 11 10.5 ERCC6 PGBD3
29 acoustic neuroma 10.3 ERCC2 ERCC4 ERCC5
30 aging 10.2
31 mutagen sensitivity 10.1 ERCC2 XPA XPC
32 xfe progeroid syndrome 10.1 ERCC1 ERCC4
33 neuronitis 10.0
34 autosomal recessive disease 10.0 ERCC1 ERCC2 ERCC3 XPA
35 neuropathy 10.0
36 autosomal genetic disease 10.0 ERCC1 ERCC2 XPA
37 xeroderma pigmentosum, complementation group a 9.9
38 cerebritis 9.9
39 calciphylaxis 9.9
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
41 nephrotic syndrome 9.8
42 ischemia 9.8
43 retinitis 9.8
44 peripheral nervous system disease 9.8
45 pfeiffer syndrome 9.7
46 tetralogy of fallot 9.7
47 down syndrome 9.7
48 ataxia-telangiectasia 9.7
49 lung cancer 9.7
50 mitochondrial complex v deficiency, nuclear type 1 9.7

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



Diseases related to Cockayne Syndrome
Sources

Symptoms & Phenotypes for Cockayne Syndrome

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Human phenotypes related to Cockayne Syndrome:

59 32 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
2 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
3 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
4 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
5 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
6 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
7 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
8 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
9 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
12 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
13 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
14 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
15 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762
16 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
17 platyspondyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000926
18 atypical scarring of skin 59 32 frequent (33%) Frequent (79-30%) HP:0000987
19 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
20 prominent superficial veins 59 32 frequent (33%) Frequent (79-30%) HP:0001015
21 large hands 59 32 frequent (33%) Frequent (79-30%) HP:0001176
22 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
23 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
24 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
25 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
26 mental deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001268
27 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
28 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
29 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
30 failure to thrive in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001531
31 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
32 abnormality of the foot 59 32 frequent (33%) Frequent (79-30%) HP:0001760
33 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
34 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
35 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
36 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
37 abnormality of pelvic girdle bone morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002644
38 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
39 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
40 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
41 abnormality of the sense of smell 59 32 hallmark (90%) Very frequent (99-80%) HP:0004408
42 generalized hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007440
43 prematurely aged appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0007495
44 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
45 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
46 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
47 sparse hair 59 32 frequent (33%) Frequent (79-30%) HP:0008070
48 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
49 erythema 59 32 frequent (33%) Frequent (79-30%) HP:0010783
50 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807

GenomeRNAi Phenotypes related to Cockayne Syndrome according to GeneCards Suite gene sharing:

26 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.48 ERCC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.48 GTF2H2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.48 ERCC6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.48 ERCC6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.48 ERCC6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.48 GTF2H2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.48 ERCC2 GTF2H2 ERCC6 TCEA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.48 ERCC6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.48 ERCC6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.48 ERCC6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.48 GTF2H2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.48 ERCC2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.48 ERCC6 TCEA1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.48 ERCC6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.48 ERCC2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.48 ERCC6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.48 GTF2H2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.48 ERCC6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.48 ERCC2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.48 TCEA1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.48 ERCC6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.48 TCEA1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.48 ERCC6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.48 ERCC2 GTF2H2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.48 GTF2H2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.48 GTF2H2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.48 GTF2H2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.48 ERCC2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.48 TCEA1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.48 TCEA1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.48 ERCC6
32 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.48 TCEA1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.48 TCEA1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.48 TCEA1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.48 GTF2H2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.48 TCEA1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.48 ERCC2
38 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.77 ERCC2 ERCC8 GTF2H2 ERCC3 ERCC4 ERCC5
39 Decreased HIV-1 infection GR00226-A 9.56 ERCC1 GTF2H2 ERCC5 XAB2
40 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.44 ERCC8 ERCC4 ERCC5 ERCC6 DDB2 ERCC1
41 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.44 ERCC8 ERCC4 ERCC5 ERCC6 DDB2 ERCC1

MGI Mouse Phenotypes related to Cockayne Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 DDB2 ERCC6 ERCC1 ERCC8 ERCC2 HELLS
2 growth/size/body region MP:0005378 10.18 ERCC6 ERCC1 ERCC8 ERCC2 HELLS ERCC3
3 integument MP:0010771 10.06 ERCC1 ERCC8 ERCC2 HELLS ERCC3 HPRT1
4 mortality/aging MP:0010768 10.03 ERCC6 ERCC1 ERCC8 ERCC2 HELLS ERCC3
5 liver/biliary system MP:0005370 9.8 ERCC6 ERCC1 ERCC4 ERCC5 HPRT1 TCEA1
6 neoplasm MP:0002006 9.61 ERCC1 ERCC8 ERCC2 ERCC3 HPRT1 DDB2
7 vision/eye MP:0005391 9.23 ERCC6 ERCC8 ERCC2 ERCC3 DDB1 HPRT1
Sources

Drugs & Therapeutics for Cockayne Syndrome

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Drugs for Cockayne Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mannitol Approved, Investigational Phase 1, Phase 2 69-65-8 453 6251
2
Everolimus Approved Phase 2 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
5 Pharmaceutical Solutions Phase 1, Phase 2
6 Anti-Bacterial Agents Phase 2
7 Antibiotics, Antitubercular Phase 2
8 Antifungal Agents Phase 2
9 Anti-Infective Agents Phase 2
10 Immunosuppressive Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome Completed NCT01142154 Phase 1, Phase 2 Prodarsan
2 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2 Sirolimus 2%;Vehicle
3 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Active, not recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
4 Metabolic Study of Cockayne Syndrome Recruiting NCT03044210 Not Applicable
5 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
6 Observational Study to Assess Natural History in Cockayne Syndrome Patients Terminated NCT00985413

Search NIH Clinical Center for Cockayne Syndrome

Cochrane evidence based reviews: cockayne syndrome

Sources

Genetic Tests for Cockayne Syndrome

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Genetic tests related to Cockayne Syndrome:

# Genetic test Affiliating Genes
1 Cockayne Syndrome 29
Sources

Anatomical Context for Cockayne Syndrome

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MalaCards organs/tissues related to Cockayne Syndrome:

41
Bone, Brain, Skin, Eye, B Cells, Breast, Kidney
Sources

Publications for Cockayne Syndrome

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Articles related to Cockayne Syndrome:

(show top 50) (show all 409)
# Title Authors Year
1
Cochlear implantation in pediatric patients with Cockayne Syndrome. ( 29447894 )
2018
2
TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A. ( 29531219 )
2018
3
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome. ( 29422660 )
2018
4
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. ( 29572252 )
2018
5
Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state. ( 29625109 )
2018
6
Temporal Bone Histopathology in Cockayne Syndrome. ( 29649050 )
2018
7
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. ( 29749609 )
2018
8
Two Cockayne Syndrome Patients with a Novel Splice Site Mutation - Clinical and Metabolic Analyses. ( 29944916 )
2018
9
Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome. ( 29742419 )
2018
10
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. ( 28440418 )
2017
11
Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A. ( 28273366 )
2017
12
Cockayne syndrome with intracranial calcification, hypomyelination, and cerebral atrophy. ( 28149095 )
2017
13
Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports. ( 29390291 )
2017
14
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. ( 29262528 )
2017
15
Renal Involvement in 2 Siblings With Cockayne Syndrome. ( 28575888 )
2017
16
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. ( 29057985 )
2017
17
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome. ( 28848724 )
2017
18
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome. ( 28333167 )
2017
19
Cockayne syndrome B protein regulates recruitment of the Elongin A ubiquitin ligase to sites of DNA damage. ( 28292928 )
2017
20
Xeroderma pigmentosum-Cockayne syndrome complex. ( 28376890 )
2017
21
Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice. ( 27122034 )
2016
22
Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA. ( 27791127 )
2016
23
Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome. ( 26616585 )
2016
24
A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair. ( 27060134 )
2016
25
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. ( 27186691 )
2016
26
Valosin-containing Protein (VCP)/p97 Segregase Mediates Proteolytic Processing of Cockayne Syndrome Group B (CSB) in Damaged Chromatin. ( 26826127 )
2016
27
Cockayne syndrome type 3 (type C) - A disorder encountered rarely. ( 27727854 )
2016
28
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. ( 26620705 )
2016
29
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. ( 27303919 )
2016
30
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. ( 26749132 )
2016
31
Discrepancy between electroencephalography and hemodynamics in a patient with Cockayne syndrome during general anesthesia. ( 27871568 )
2016
32
PERIPHERAL RETINAL VASCULOPATHY IN COCKAYNE SYNDROME. ( 27124796 )
2016
33
Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony. ( 26755826 )
2016
34
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. ( 26972010 )
2016
35
Cockayne Syndrome: A Diffusion Tensor Imaging and Volumetric Study. ( 27643390 )
2016
36
Cockayne syndrome: Clinical features, model systems and pathways. ( 27507608 )
2016
37
Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome. ( 27396511 )
2016
38
UV-induced proteolysis of RNA polymerase II is mediated by VCP/p97 segregase and timely orchestration by Cockayne syndrome B protein. ( 28036256 )
2016
39
Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency. ( 27543334 )
2016
40
Absence of skin cancer in the DNA repair-deficient disease Cockayne Syndrome (CS): A survey study. ( 27185437 )
2016
41
Regulation of Transcription Elongation by the XPG-TFIIH Complex Is Implicated in Cockayne Syndrome. ( 26149386 )
2015
42
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient. ( 26173784 )
2015
43
Teaching NeuroImages: Cockayne syndrome with extensive intracranial calcification. ( 25941205 )
2015
44
Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion. ( 26210811 )
2015
45
Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics. ( 26030138 )
2015
46
Nationwide survey of Cockayne syndrome in Japan: its incidence, clinical course and prognosis. ( 25851792 )
2015
47
Pioglitazone improves fat tissue distribution and hyperglycemia in a case of cockayne syndrome with diabetes. ( 25908161 )
2015
48
Metronidazole Toxicity in Cockayne Syndrome: A Case Series. ( 26304821 )
2015
49
A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome. ( 26460500 )
2015
50
Cockayne syndrome group B (csb) and group a (csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. ( 25762674 )
2015
Sources

Variations for Cockayne Syndrome

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ClinVar genetic disease variations for Cockayne Syndrome:

6
(show top 50) (show all 384)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC1 NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu) single nucleotide variant Pathogenic rs121913028 GRCh37 Chromosome 19, 45918128: 45918128
2 ERCC1 NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu) single nucleotide variant Pathogenic rs121913028 GRCh38 Chromosome 19, 45414870: 45414870
3 ERCC8 NM_000082.3(ERCC8): c.435T> C (p.Tyr145=) single nucleotide variant Benign rs4647100 GRCh38 Chromosome 5, 60904838: 60904838
4 ERCC8 NM_000082.3(ERCC8): c.435T> C (p.Tyr145=) single nucleotide variant Benign rs4647100 GRCh37 Chromosome 5, 60200665: 60200665
5 ERCC8 NM_000082.3(ERCC8): c.363T> C (p.Asp121=) single nucleotide variant Conflicting interpretations of pathogenicity rs4647088 GRCh38 Chromosome 5, 60918301: 60918301
6 ERCC8 NM_000082.3(ERCC8): c.363T> C (p.Asp121=) single nucleotide variant Conflicting interpretations of pathogenicity rs4647088 GRCh37 Chromosome 5, 60214128: 60214128
7 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh37 Chromosome 10, 50678829: 50678829
8 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh38 Chromosome 10, 49470783: 49470783
9 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
10 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
11 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
12 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
13 ERCC6 NM_000124.3(ERCC6): c.1821+7C> T single nucleotide variant Benign rs4253132 GRCh37 Chromosome 10, 50701156: 50701156
14 ERCC6 NM_000124.3(ERCC6): c.1821+7C> T single nucleotide variant Benign rs4253132 GRCh38 Chromosome 10, 49493110: 49493110
15 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
16 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
17 ERCC6 NM_000124.3(ERCC6): c.670C> T (p.Leu224Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150935953 GRCh37 Chromosome 10, 50732806: 50732806
18 ERCC6 NM_000124.3(ERCC6): c.670C> T (p.Leu224Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150935953 GRCh38 Chromosome 10, 49524760: 49524760
19 ERCC6 NM_000124.3(ERCC6): c.150G> A (p.Val50=) single nucleotide variant Likely benign rs80133923 GRCh37 Chromosome 10, 50740861: 50740861
20 ERCC6 NM_000124.3(ERCC6): c.150G> A (p.Val50=) single nucleotide variant Likely benign rs80133923 GRCh38 Chromosome 10, 49532815: 49532815
21 ERCC6 NM_000124.3(ERCC6): c.2048G> A (p.Arg683Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148845653 GRCh37 Chromosome 10, 50690854: 50690854
22 ERCC6 NM_000124.3(ERCC6): c.2048G> A (p.Arg683Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148845653 GRCh38 Chromosome 10, 49482808: 49482808
23 ERCC8 NM_000082.3(ERCC8): c.1080T> C (p.Ala360=) single nucleotide variant Benign/Likely benign rs4647130 GRCh37 Chromosome 5, 60183309: 60183309
24 ERCC8 NM_000082.3(ERCC8): c.1080T> C (p.Ala360=) single nucleotide variant Benign/Likely benign rs4647130 GRCh38 Chromosome 5, 60887482: 60887482
25 ERCC6 NM_000124.3(ERCC6): c.2403C> T (p.Ala801=) single nucleotide variant Likely benign rs114896216 GRCh37 Chromosome 10, 50682268: 50682268
26 ERCC6 NM_000124.3(ERCC6): c.2403C> T (p.Ala801=) single nucleotide variant Likely benign rs114896216 GRCh38 Chromosome 10, 49474222: 49474222
27 ERCC6 NM_000124.3(ERCC6): c.2924G> A (p.Arg975Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145720191 GRCh37 Chromosome 10, 50680422: 50680422
28 ERCC6 NM_000124.3(ERCC6): c.2924G> A (p.Arg975Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145720191 GRCh38 Chromosome 10, 49472376: 49472376
29 ERCC6 NM_000124.3(ERCC6): c.3061A> G (p.Ile1021Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41562713 GRCh37 Chromosome 10, 50679030: 50679030
30 ERCC6 NM_000124.3(ERCC6): c.3061A> G (p.Ile1021Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41562713 GRCh38 Chromosome 10, 49470984: 49470984
31 ERCC6 NM_000124.3(ERCC6): c.3010C> T (p.Leu1004=) single nucleotide variant Benign rs2274097 GRCh37 Chromosome 10, 50679081: 50679081
32 ERCC6 NM_000124.3(ERCC6): c.3010C> T (p.Leu1004=) single nucleotide variant Benign rs2274097 GRCh38 Chromosome 10, 49471035: 49471035
33 ERCC6 NM_000124.3(ERCC6): c.528A> G (p.Arg176=) single nucleotide variant Benign rs4253027 GRCh37 Chromosome 10, 50738781: 50738781
34 ERCC6 NM_000124.3(ERCC6): c.528A> G (p.Arg176=) single nucleotide variant Benign rs4253027 GRCh38 Chromosome 10, 49530735: 49530735
35 ERCC8 NM_000082.3(ERCC8): c.839C> A (p.Thr280Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs61754098 GRCh37 Chromosome 5, 60194107: 60194107
36 ERCC8 NM_000082.3(ERCC8): c.839C> A (p.Thr280Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs61754098 GRCh38 Chromosome 5, 60898280: 60898280
37 ERCC6 NM_000124.3(ERCC6): c.1337G> A (p.Gly446Asp) single nucleotide variant Likely benign rs4253047 GRCh37 Chromosome 10, 50732139: 50732139
38 ERCC6 NM_000124.3(ERCC6): c.1337G> A (p.Gly446Asp) single nucleotide variant Likely benign rs4253047 GRCh38 Chromosome 10, 49524093: 49524093
39 ERCC4 NM_005236.2(ERCC4): c.33C> T (p.Ala11=) single nucleotide variant Benign rs3136042 GRCh38 Chromosome 16, 13920198: 13920198
40 ERCC4 NM_005236.2(ERCC4): c.33C> T (p.Ala11=) single nucleotide variant Benign rs3136042 GRCh37 Chromosome 16, 14014055: 14014055
41 ERCC4 NM_005236.2(ERCC4): c.252C> T (p.Leu84=) single nucleotide variant Benign/Likely benign rs3136056 GRCh37 Chromosome 16, 14015932: 14015932
42 ERCC4 NM_005236.2(ERCC4): c.252C> T (p.Leu84=) single nucleotide variant Benign/Likely benign rs3136056 GRCh38 Chromosome 16, 13922075: 13922075
43 ERCC4 NM_005236.2(ERCC4): c.503C> G (p.Ala168Gly) single nucleotide variant Uncertain significance rs2020961 GRCh37 Chromosome 16, 14020532: 14020532
44 ERCC4 NM_005236.2(ERCC4): c.503C> G (p.Ala168Gly) single nucleotide variant Uncertain significance rs2020961 GRCh38 Chromosome 16, 13926675: 13926675
45 ERCC4 NM_005236.2(ERCC4): c.2463A> G (p.Pro821=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020953 GRCh37 Chromosome 16, 14041916: 14041916
46 ERCC4 NM_005236.2(ERCC4): c.2463A> G (p.Pro821=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020953 GRCh38 Chromosome 16, 13948059: 13948059
47 ERCC6 NM_000124.3(ERCC6): c.400C> T (p.Arg134Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs148095899 GRCh37 Chromosome 10, 50740611: 50740611
48 ERCC6 NM_000124.3(ERCC6): c.400C> T (p.Arg134Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs148095899 GRCh38 Chromosome 10, 49532565: 49532565
49 ERCC6 NM_000124.3(ERCC6): c.2825C> T (p.Thr942Met) single nucleotide variant Benign rs2228525 GRCh37 Chromosome 10, 50680959: 50680959
50 ERCC6 NM_000124.3(ERCC6): c.2825C> T (p.Thr942Met) single nucleotide variant Benign rs2228525 GRCh38 Chromosome 10, 49472913: 49472913

Copy number variations for Cockayne Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 42795 10 40200000 135534747 Copy number ERCC6 Cockayne syndrome
Sources

Expression for Cockayne Syndrome

About this section
Search GEO for disease gene expression data for Cockayne Syndrome.
Sources

Pathways for Cockayne Syndrome

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Pathways related to Cockayne Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Nucleotide excision repair hsa03420

Pathways related to Cockayne Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 66
Show member pathways
 13.06 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2
Regulation of TP53 Activity 66
Show member pathways
 12.75 DDB2 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1
3
Chks in Checkpoint Regulation 64
Show member pathways
 12.6 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4
Transcription-Coupled Nucleotide Excision Repair (TC-NER) 66
Show member pathways
 12.59 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
5
DNA Damage 4
12.44 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
6
SMAD Signaling Network 64
11.91 ERCC2 ERCC3 GTF2H2 XPA XPC
7
RNA Polymerase I Promoter Escape 66
Show member pathways
 11.85 ERCC2 ERCC3 ERCC6 GTF2H2 POLR2L
8
Ubiquitin mediated proteolysis 37
11.79 DDB1 DDB2 ERCC8
9
Nucleotide excision repair 37
Show member pathways
 11.47 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
10
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 61
11.26 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 XPA
Sources

GO Terms for Cockayne Syndrome

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Cellular components related to Cockayne Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.7 DDB1 ERCC1 ERCC4
2 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.61 DDB1 DDB2 ERCC8
3 core TFIIH complex GO:0000439 9.58 ERCC2 ERCC3 GTF2H2
4 holo TFIIH complex GO:0005675 9.56 ERCC2 ERCC3 ERCC5 GTF2H2
5 nucleoplasm GO:0005654 9.55 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
6 nucleotide-excision repair complex GO:0000109 9.54 ERCC1 ERCC4 ERCC8
7 DNA replication factor A complex GO:0005662 9.51 ERCC5 XPA
8 nucleotide-excision repair factor 1 complex GO:0000110 9.5 ERCC1 ERCC4 XPA
9 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.49 DDB1 ERCC8
10 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.48 DDB1 DDB2
11 ERCC4-ERCC1 complex GO:0070522 9.46 ERCC1 ERCC4
12 transcription factor TFIID complex GO:0005669 9.43 ERCC1 ERCC2 ERCC3 ERCC4 GTF2H2 TCEA1
13 nucleus GO:0005634 10.13 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4

Biological processes related to Cockayne Syndrome according to GeneCards Suite gene sharing:

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism growth GO:0035264 9.99 ERCC1 ERCC2 ERCC6 PGBD3 XPA
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.98 ERCC2 ERCC3 GTF2H2 POLR2L
3 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.97 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
4 UV-damage excision repair GO:0070914 9.95 DDB1 DDB2 ERCC1 XPA XPC
5 7-methylguanosine mRNA capping GO:0006370 9.92 ERCC2 ERCC3 GTF2H2 POLR2L
6 transcription initiation from RNA polymerase I promoter GO:0006361 9.91 ERCC2 ERCC3 GTF2H2 POLR2L
7 termination of RNA polymerase I transcription GO:0006363 9.91 ERCC2 ERCC3 GTF2H2 POLR2L
8 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.91 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
9 response to X-ray GO:0010165 9.88 ERCC1 ERCC6 ERCC8 PGBD3
10 nucleotide-excision repair, DNA damage recognition GO:0000715 9.88 DDB1 DDB2 XPA XPC
11 response to toxic substance GO:0009636 9.87 ERCC6 PGBD3 XPA
12 regulation of mitotic cell cycle phase transition GO:1901990 9.87 DDB1 ERCC2 ERCC3 XPC
13 positive regulation of gene expression, epigenetic GO:0045815 9.86 ERCC6 PGBD3 POLR2L
14 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.85 ERCC6 PGBD3 XPA
15 embryonic organ development GO:0048568 9.83 ERCC1 ERCC2 ERCC3
16 base-excision repair GO:0006284 9.83 ERCC6 PGBD3 XPA
17 response to auditory stimulus GO:0010996 9.81 ERCC8 XPA XPC
18 global genome nucleotide-excision repair GO:0070911 9.81 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
19 response to UV-B GO:0010224 9.8 ERCC6 PGBD3 XPC
20 pyrimidine dimer repair GO:0006290 9.77 DDB2 ERCC6 PGBD3
21 regulation of DNA-templated transcription, elongation GO:0032784 9.7 ERCC6 PGBD3
22 histone H2A monoubiquitination GO:0035518 9.69 DDB1 DDB2
23 positive regulation of DNA-templated transcription, elongation GO:0032786 9.69 ERCC6 PGBD3
24 activation of JNKK activity GO:0007256 9.69 ERCC6 PGBD3
25 response to superoxide GO:0000303 9.68 ERCC6 PGBD3
26 hair cell differentiation GO:0035315 9.68 ERCC2 ERCC3
27 lymphocyte proliferation GO:0046651 9.67 HELLS HPRT1
28 negative regulation of telomere maintenance GO:0032205 9.66 ERCC1 ERCC4
29 telomeric DNA-containing double minutes formation GO:0061819 9.65 ERCC1 ERCC4
30 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.65 ERCC1 ERCC4
31 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.64 ERCC4 XPA
32 nucleotide-excision repair, preincision complex assembly GO:0006294 9.56 DDB1 DDB2 ERCC2 ERCC3 ERCC5 GTF2H2
33 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.17 DDB1 DDB2 ERCC2 ERCC3 GTF2H2 XPA
34 cellular response to DNA damage stimulus GO:0006974 10.39 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
35 DNA repair GO:0006281 10.37 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
36 transcription, DNA-templated GO:0006351 10.36 ERCC2 ERCC3 ERCC6 GTF2H2 HELLS PGBD3
37 transcription-coupled nucleotide-excision repair GO:0006283 10.35 DDB1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
38 response to UV GO:0009411 10.2 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
39 transcription by RNA polymerase II GO:0006366 10.18 ERCC2 ERCC3 ERCC6 GTF2H2 PGBD3 POLR2L
40 nucleotide-excision repair GO:0006289 10.17 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
41 response to oxidative stress GO:0006979 10.1 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3
42 nucleotide-excision repair, DNA incision GO:0033683 10.06 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
43 transcription elongation from RNA polymerase II promoter GO:0006368 10.02 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1
44 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 10.02 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
45 transcription elongation from RNA polymerase I promoter GO:0006362 10.01 ERCC2 ERCC3 ERCC6 GTF2H2 PGBD3 POLR2L
46 UV protection GO:0009650 10 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 XPA

Molecular functions related to Cockayne Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.8 DDB1 DDB2 ERCC6 ERCC8 PGBD3
2 protein C-terminus binding GO:0008022 9.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 PGBD3
3 single-stranded DNA binding GO:0003697 9.78 ERCC1 ERCC4 ERCC5 XPC
4 helicase activity GO:0004386 9.77 ERCC2 ERCC3 ERCC6 HELLS PGBD3
5 nuclease activity GO:0004518 9.75 ERCC1 ERCC4 ERCC5
6 endonuclease activity GO:0004519 9.74 ERCC1 ERCC4 ERCC5
7 protein N-terminus binding GO:0047485 9.7 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GTF2H2
8 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.61 ERCC2 ERCC3 GTF2H2
9 protein tyrosine kinase activator activity GO:0030296 9.56 ERCC6 PGBD3
10 TFIID-class transcription factor binding GO:0001094 9.55 ERCC1 ERCC4
11 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.52 ERCC1 ERCC4
12 bubble DNA binding GO:0000405 9.51 ERCC5 XPC
13 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.49 ERCC1 ERCC4
14 DNA-dependent ATPase activity GO:0008094 9.43 ERCC2 ERCC3 ERCC6 ERCC8 GTF2H2 PGBD3
15 damaged DNA binding GO:0003684 9.17 DDB1 DDB2 ERCC1 ERCC3 ERCC4 XPA
16 protein binding GO:0005515 10.43 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
17 hydrolase activity GO:0016787 10.14 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
18 DNA binding GO:0003677 10.1 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
Sources

Sources for Cockayne Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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