CS
MCID: CCK001
MIFTS: 67

Cockayne Syndrome (CS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cockayne Syndrome

MalaCards integrated aliases for Cockayne Syndrome:

Name: Cockayne Syndrome 12 73 25 20 43 58 36 29 54 6 44 15 70
Cockayne's Syndrome 12 73 20
Dwarfism-Retinal Atrophy-Deafness Syndrome 20 43
Neill-Dingwall Syndrome 12
Progeria-Like Syndrome 20
Syndrome, Cockayne 39
Progeroid Nanism 20
Cs 43

Characteristics:

Orphanet epidemiological data:

58
cockayne syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Cockayne Syndrome

MedlinePlus Genetics : 43 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.People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole. If affected individuals take this medication, it can cause life-threatening liver failure.Cockayne syndrome is sometimes divided into types I, II, and III based on the severity and age of onset of symptoms. However, the differences between the types are not always clear-cut, and some researchers believe the signs and symptoms reflect a spectrum instead of distinct types. Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some researchers consider it to be a separate but similar condition, others classify it as part of the Cockayne syndrome disease spectrum.

MalaCards based summary : Cockayne Syndrome, also known as cockayne's syndrome, is related to cockayne syndrome b and cockayne syndrome a. An important gene associated with Cockayne Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Nucleotide excision repair and DNA Double-Strand Break Repair. The drugs Mannitol and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and skeletal muscle, and related phenotypes are postnatal growth retardation and cachexia

Disease Ontology : 12 A syndrome 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.

GARD : 20 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.

KEGG : 36 Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries and neurological degeneration. CS has thus been classified as a segmental premature-aging syndrome. CSA caused by mutation in the gene encoding the group 8 excision-repair cross-complementing protein (ERCC8) is early childhood onset in the second year of life, CSB caused by mutation in the ERCC6 gene is late childhood onset with mild symptoms. ERCC8 encodes a Walker domain (WD)-repeat protein involved in the transcription-coupled repair system of the actively transcribed DNA. ERCC6 protein is at the interface of transcription and DNA repair and is involved in transcription-coupled and global genome-DNA repair, as well as in general transcription.

Wikipedia : 73 Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive... more...

GeneReviews: NBK1342

Related Diseases for Cockayne Syndrome

Diseases in the Cockayne Syndrome family:

Cockayne Syndrome B Cockayne Syndrome a
Cockayne Syndrome Type Iii

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

(show top 50) (show all 207)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome b 33.6 PGBD3 ERCC8 ERCC6 ERCC1
2 cockayne syndrome a 33.4 XPA TCEA1 POLR2L NDUFAF2 ERCC8-AS1 ERCC8
3 cockayne syndrome type iii 33.3 ERCC8 ERCC6
4 xeroderma pigmentosum, complementation group f 33.2 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
5 xeroderma pigmentosum, complementation group g 32.9 XPC XPA GTF2H2 ERCC8 ERCC6 ERCC5
6 xeroderma pigmentosum, complementation group b 32.8 XPC XPA POLR2L GTF2H2 ERCC8 ERCC6
7 cerebrooculofacioskeletal syndrome 1 32.8 PGBD3 ERCC6 ERCC5 ERCC2 ERCC1
8 xeroderma pigmentosum-cockayne syndrome complex 32.6 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
9 cerebro-oculo-facio-skeletal syndrome 32.5 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
10 uv-sensitive syndrome 32.5 XPC XPA TCEA1 PGBD3 ERCC8 ERCC6
11 xeroderma pigmentosum, complementation group d 32.4 XPC XPA GTF2H2 ERCC8 ERCC6 ERCC5
12 cerebrooculofacioskeletal syndrome 3 32.3 ERCC5 BIVM-ERCC5
13 xeroderma pigmentosum, variant type 31.8 XPC XPA POLR2L POLR1C PARP1 HPRT1
14 autosomal recessive disease 31.5 XPA ERCC6 ERCC3 ERCC2
15 hutchinson-gilford progeria syndrome 31.4 XPA HELLS ERCC8 ERCC6 ERCC4 ERCC1
16 skin carcinoma 31.2 XPC XPA HPRT1 ERCC6 ERCC3 ERCC2
17 trichothiodystrophy 31.2 XPC XPA HELLS GTF2H2 ERCC6 ERCC5
18 xeroderma pigmentosum, complementation group c 31.1 XPC XPA ERCC6 ERCC3 ERCC1
19 de sanctis-cacchione syndrome 31.1 PGBD3 ERCC6
20 xeroderma pigmentosum, complementation group a 31.0 XPC XPA PARP1 ERCC6 ERCC2 ERCC1
21 uv-sensitive syndrome 1 30.9 PGBD3 ERCC6
22 fanconi anemia, complementation group a 30.7 XPA PARP1 HPRT1 HELLS ERCC6 ERCC4
23 xeroderma pigmentosum group e 30.5 XPC XPA ERCC6 ERCC5 ERCC4 ERCC3
24 mutagen sensitivity 30.5 XPC XPA ERCC2
25 xeroderma pigmentosum, complementation group e 30.5 XPC XPA ERCC5
26 macular degeneration, age-related, 5 30.4 PGBD3 ERCC6
27 epidermolysis bullosa simplex, localized 11.2
28 congenital intrauterine infection-like syndrome 11.1
29 cerebrooculofacioskeletal syndrome 4 11.0
30 cerebrooculofacioskeletal syndrome 2 11.0
31 progeroid short stature with pigmented nevi 11.0
32 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome 11.0
33 flynn-aird syndrome 10.9
34 uv-sensitive syndrome 2 10.9
35 nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome 10.9
36 premature aging 10.7
37 microcephaly 10.6
38 dwarfism 10.6
39 xfe progeroid syndrome 10.5 XPA ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
40 cataract 10.5
41 trichothiodystrophy 3, photosensitive 10.5 GTF2H2 ERCC6 ERCC3 ERCC2
42 photoparoxysmal response 1 10.5 XPA ERCC6 ERCC1
43 robinow syndrome, autosomal recessive 1 10.5 XPA ERCC8 ERCC6 ERCC4 ERCC3 ERCC1
44 acoustic neuroma 10.5 ERCC5 ERCC4 ERCC2
45 gastroesophageal adenocarcinoma 10.5 XPA ERCC2 ERCC1
46 mitochondrial complex i deficiency, nuclear type 10 10.5 NDUFAF2 ERCC8
47 trichothiodystrophy 1, photosensitive 10.5 ERCC6 ERCC3 ERCC2
48 female breast cancer 10.5 ERCC5 ERCC4 ERCC2
49 branchiootic syndrome 1 10.4
50 premature ovarian failure 11 10.4 PGBD3 ERCC6

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



Diseases related to Cockayne Syndrome

Symptoms & Phenotypes for Cockayne Syndrome

Human phenotypes related to Cockayne Syndrome:

58 31 (show top 50) (show all 120)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
2 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
3 mental deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001268
4 cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001272
5 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
6 pigmentary retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000580
7 progressive sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000408
8 cerebral dysmyelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0007266
9 progressive microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000253
10 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
11 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
12 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
13 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
14 progressive visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000529
15 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
16 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
17 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
18 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
19 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
20 retinal dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000556
21 sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0003474
22 demyelinating peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007108
23 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
24 congenital contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002803
25 hypoplasia of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0006297
26 dry hair 58 31 frequent (33%) Frequent (79-30%) HP:0011359
27 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
28 premature skin wrinkling 58 31 frequent (33%) Frequent (79-30%) HP:0100678
29 contractures of the large joints 58 31 frequent (33%) Frequent (79-30%) HP:0005781
30 reduced subcutaneous adipose tissue 58 31 frequent (33%) Frequent (79-30%) HP:0003758
31 gliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002171
32 basal ganglia calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002135
33 high-frequency sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0001757
34 subcortical white matter calcifications 58 31 frequent (33%) Frequent (79-30%) HP:0007346
35 dense calcifications in the cerebellar dentate nucleus 58 31 frequent (33%) Frequent (79-30%) HP:0002461
36 patchy demyelination of subcortical white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002545
37 seizure 31 frequent (33%) HP:0001250
38 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
39 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
40 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
41 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
42 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
43 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
44 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
45 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
46 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
47 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
48 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
49 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689
50 thickened calvaria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002684

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

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-101 10 ERCC2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 10 ERCC6
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 10 GTF2H2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10 ERCC6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 10 ERCC6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 10 ERCC6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 10 ERCC2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10 ERCC2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10 ERCC2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-188 10 ERCC6
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 10 GTF2H2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10 ERCC2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10 ERCC6
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10 ERCC6
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-201 10 ERCC2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 10 ERCC6
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10 GTF2H2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10 ERCC2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-44 10 ERCC6
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10 GTF2H2
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-80 10 ERCC2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10 ERCC6
23 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.55 ERCC4 ERCC5 ERCC6
24 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.55 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8
25 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.55 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
26 Decreased HIV-1 infection GR00226-A 9.46 ERCC1 ERCC5 GTF2H2 NDUFAF2

MGI Mouse Phenotypes related to Cockayne Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.26 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8
2 growth/size/body region MP:0005378 10.25 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 homeostasis/metabolism MP:0005376 10.25 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 cellular MP:0005384 10.23 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8
5 mortality/aging MP:0010768 10.16 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
6 integument MP:0010771 10.15 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8
7 liver/biliary system MP:0005370 9.87 ERCC1 ERCC4 ERCC5 ERCC6 HPRT1 TCEA1
8 neoplasm MP:0002006 9.76 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 HPRT1
9 pigmentation MP:0001186 9.35 ERCC2 HELLS HPRT1 POLR1C XPA
10 vision/eye MP:0005391 9.32 ERCC1 ERCC2 ERCC5 ERCC6 ERCC8 HPRT1

Drugs & Therapeutics for Cockayne Syndrome

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mannitol Approved, Investigational Phase 1, Phase 2 69-65-8 453 6251
2
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
5 Pharmaceutical Solutions Phase 1, Phase 2
6 Antibiotics, Antitubercular Phase 2
7 Immunosuppressive Agents Phase 2
8 Anti-Bacterial Agents Phase 2
9 Immunologic Factors Phase 2
10 Antifungal Agents Phase 2
11 Anti-Infective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective, Double-Blind, Cross-Over, Pilot Study to Assess Safety and Efficacy of Topical Sirolimus 2% in the Treatment of Plantar Blistering in Patients With Epidermolysis Bullous Simplex (EBS) Unknown status NCT03016715 Phase 2 Sirolimus 2%;Vehicle
2 A Phase I/II Crossover Study To Evaluate and Compare the Pharmacokinetics of a Single IV Dose of D-Mannitol (Osmitrol®10%) to Single and Multiple, Escalating Doses of Liquid, Oral Prodarsan™ in Patients With Cockayne Syndrome Completed NCT01142154 Phase 1, Phase 2 Prodarsan
3 A Prospective, Double-Blind, Cross-Over, Pilot Study to Assess Safety and Efficacy of Topical Sirolimus 2% in the Treatment of Plantar Blistering in Patients With Epidermolysis Bullous Simplex (EBS) Active, not recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
4 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
5 Metabolic Study of Cockayne Syndrome Recruiting NCT03044210
6 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
7 An Observational Study to Assess the Natural History Including Growth and Hearing in Patients With Cockayne Syndrome Terminated NCT00985413

Search NIH Clinical Center for Cockayne Syndrome

Cochrane evidence based reviews: cockayne syndrome

Genetic Tests for Cockayne Syndrome

Genetic tests related to Cockayne Syndrome:

# Genetic test Affiliating Genes
1 Cockayne Syndrome 29

Anatomical Context for Cockayne Syndrome

MalaCards organs/tissues related to Cockayne Syndrome:

40
Eye, Skin, Skeletal Muscle, B Cells, Liver, Breast, Colon

Publications for Cockayne Syndrome

Articles related to Cockayne Syndrome:

(show top 50) (show all 1231)
# Title Authors PMID Year
1
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. 54 61 6 25
19329487 2009
2
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 25 61 6
29572252 2018
3
High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. 61 6 25
21108394 2010
4
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 6 25 61
19894250 2010
5
CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 25 6
26218421 2015
6
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. 61 54 6
10767341 2000
7
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. 54 61 6
10196384 1999
8
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 54 6 61
9443879 1998
9
Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders. 61 6
30658521 2019
10
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features. 61 6
30165384 2018
11
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations. 61 6
29403087 2018
12
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. 61 6
29105242 2018
13
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. 6 61
29325523 2018
14
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. 61 6
29057985 2017
15
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 61 6
27186691 2017
16
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 6 61
27004399 2016
17
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. 61 6
26620705 2016
18
Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. 6 61
26453996 2015
19
The ERCC1 and ERCC4 (XPF) genes and gene products. 6 61
26074087 2015
20
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. 61 6
25356239 2014
21
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 61 6
23623389 2013
22
[Cockayne syndrome: a new mutation in the ERCC8 gene]. 61 6
22829088 2012
23
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. 61 6
21143350 2011
24
CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. 61 6
18784753 2008
25
Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. 6 61
18446857 2008
26
Cockayne syndrome type A: novel mutations in eight typical patients. 6 61
16865293 2006
27
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. 61 6
15744458 2005
28
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. 61 6
14661080 2004
29
Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells. 61 6
11809892 2002
30
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids. 6 61
9338586 1997
31
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. 61 6
7664335 1995
32
Renal disease in Cockayne syndrome. 25 61
30630117 2020
33
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
34
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene. 61 25
30200888 2018
35
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F. 6
29892709 2018
36
Cochlear implantation in pediatric patients with Cockayne Syndrome. 25 61
29447894 2018
37
Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation. 25 61
29225035 2017
38
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 6
28678401 2017
39
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. 6
28767289 2017
40
Recruitment and positioning determine the specific role of the XPF-ERCC1 endonuclease in interstrand crosslink repair. 6
28292785 2017
41
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. 6
28431612 2017
42
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. 6
27528516 2016
43
Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA. 25 61
27791127 2016
44
Cockayne syndrome: a diffusion tensor imaging and volumetric study. 25 61
27643390 2016
45
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 6
27356891 2016
46
A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair. 61 25
27060134 2016
47
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 25 61
26204423 2016
48
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 6
26884178 2016
49
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. 6
26846091 2016
50
Metronidazole Toxicity in Cockayne Syndrome: A Case Series. 25 61
26304821 2015

Variations for Cockayne Syndrome

ClinVar genetic disease variations for Cockayne Syndrome:

6 (show top 50) (show all 633)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC8 NM_000082.4(ERCC8):c.173+1119G>C SNV Pathogenic 397640 rs1043679457 GRCh37: 5:60223572-60223572
GRCh38: 5:60927745-60927745
2 ERCC8 NM_000082.3(ERCC8):c.769G>A (p.Gly257Arg) SNV Pathogenic 590788 rs770499406 GRCh37: 5:60194177-60194177
GRCh38: 5:60898350-60898350
3 overlap with 2 genes NC_000005.9:g.60164820_60244992del Deletion Pathogenic 617678 GRCh37: 5:60164820-60244992
GRCh38:
4 ERCC8 NM_000082.3(ERCC8):c.78-2A>T SNV Pathogenic 586967 rs748379243 GRCh37: 5:60224788-60224788
GRCh38: 5:60928961-60928961
5 ERCC8 NM_000082.3(ERCC8):c.551-1G>A SNV Pathogenic 558564 rs1554073316 GRCh37: 5:60198336-60198336
GRCh38: 5:60902509-60902509
6 ERCC8 NM_001007233.2(ERCC8):c.-252del Deletion Pathogenic 190175 rs786205176 GRCh37: 5:60224723-60224723
GRCh38: 5:60928896-60928896
7 ERCC8 , ERCC8-AS1 NM_001290285.1(ERCC8):c.-65_-64del Deletion Pathogenic 558687 rs1404477615 GRCh37: 5:60214177-60214178
GRCh38: 5:60918350-60918351
8 ERCC8 , ERCC8-AS1 NM_001290285.1(ERCC8):c.-61_-58dup Duplication Pathogenic 635323 rs1580023012 GRCh37: 5:60214170-60214171
GRCh38: 5:60918343-60918344
9 ERCC8 NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe) SNV Pathogenic 974940 GRCh37: 5:60217954-60217954
GRCh38: 5:60922127-60922127
10 ERCC6 NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter) SNV Pathogenic 1700 rs121917900 GRCh37: 10:50708719-50708719
GRCh38: 10:49500673-49500673
11 ERCC6 ERCC6, 4-BP INS, 1053TGTC Insertion Pathogenic 1705 GRCh37:
GRCh38:
12 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs) Insertion Pathogenic 1710 rs1590474873 GRCh37: 10:50732441-50732442
GRCh38: 10:49524395-49524396
13 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.543+4del Deletion Pathogenic 143186 rs527236039 GRCh37: 10:50738762-50738762
GRCh38: 10:49530716-49530716
14 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1280dup (p.Ser429fs) Duplication Pathogenic 190146 rs786205166 GRCh37: 10:50732195-50732196
GRCh38: 10:49524149-49524150
15 ERCC6 NM_000124.4(ERCC6):c.1850dup (p.Cys617fs) Duplication Pathogenic 190148 rs786205167 GRCh37: 10:50691533-50691534
GRCh38: 10:49483487-49483488
16 ERCC6 NM_000124.3(ERCC6):c.1684_1705del Deletion Pathogenic 190152 GRCh37:
GRCh38:
17 ERCC6 NM_000124.4(ERCC6):c.1999del (p.Thr667fs) Deletion Pathogenic 190157 rs786205169 GRCh37: 10:50690903-50690903
GRCh38: 10:49482857-49482857
18 ERCC6 NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) SNV Pathogenic 190158 rs202080674 GRCh37: 10:50690894-50690894
GRCh38: 10:49482848-49482848
19 ERCC6 NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) SNV Pathogenic 190170 rs786205174 GRCh37: 10:50669477-50669477
GRCh38: 10:49461431-49461431
20 ERCC6 NM_000124.4(ERCC6):c.4007del (p.Asn1336fs) Deletion Pathogenic 190172 rs786205175 GRCh37: 10:50668474-50668474
GRCh38: 10:49460428-49460428
21 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) Insertion Pathogenic 210956 rs797045562 GRCh37: 10:50732625-50732626
GRCh38: 10:49524579-49524580
22 ERCC6 NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) SNV Pathogenic 435083 rs751292948 GRCh37: 10:50690844-50690844
GRCh38: 10:49482798-49482798
23 ERCC8 NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) SNV Pathogenic 1715 rs121434323 GRCh37: 5:60186791-60186791
GRCh38: 5:60890964-60890964
24 ERCC8 ERCC8, 279-BP DEL, 81-BP DEL Deletion Pathogenic 1714 GRCh37:
GRCh38:
25 ERCC6 NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) SNV Pathogenic 435082 rs772801089 GRCh37: 10:50680423-50680423
GRCh38: 10:49472377-49472377
26 ERCC6 NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) SNV Pathogenic 522698 rs368728467 GRCh37: 10:50682120-50682120
GRCh38: 10:49474074-49474074
27 ERCC6 NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter) SNV Pathogenic 598738 rs1564725764 GRCh37: 10:50669439-50669439
GRCh38: 10:49461393-49461393
28 ERCC8 NM_000082.3(ERCC8):c.394_398del (p.Leu132fs) Deletion Pathogenic 554811 rs774542633 GRCh37: 5:60214093-60214097
GRCh38: 5:60918266-60918270
29 ERCC8 NM_000082.3(ERCC8):c.618-1G>A SNV Pathogenic 551068 rs201464610 GRCh37: 5:60195555-60195555
GRCh38: 5:60899728-60899728
30 ERCC8 NM_000082.4(ERCC8):c.481+1G>C SNV Pathogenic 807412 rs1580007152 GRCh37: 5:60200618-60200618
GRCh38: 5:60904791-60904791
31 ERCC8 NM_000082.3(ERCC8):c.175A>T (p.Met59Leu) SNV Pathogenic 595882 rs140343389 GRCh37: 5:60217981-60217981
GRCh38: 5:60922154-60922154
32 ERCC6 NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) SNV Pathogenic 1701 rs121917901 GRCh37: 10:50686483-50686483
GRCh38: 10:49478437-49478437
33 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) SNV Pathogenic 1703 rs121917902 GRCh37: 10:50732119-50732119
GRCh38: 10:49524073-49524073
34 NDUFAF2 , ERCC8 NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) SNV Pathogenic 1716 rs121434324 GRCh37: 5:60240799-60240799
GRCh38: 5:60944972-60944972
35 ERCC6 NM_000124.4(ERCC6):c.1526+1G>T SNV Pathogenic 190147 rs371739894 GRCh37: 10:50713929-50713929
GRCh38: 10:49505883-49505883
36 ERCC6 NM_000124.4(ERCC6):c.2830-2A>G SNV Pathogenic 190163 rs373227647 GRCh37: 10:50680518-50680518
GRCh38: 10:49472472-49472472
37 ERCC6 NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) Duplication Pathogenic 190166 rs786205170 GRCh37: 10:50678593-50678594
GRCh38: 10:49470547-49470548
38 ERCC6 NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) Deletion Pathogenic 190167 rs786205171 GRCh37: 10:50678470-50678470
GRCh38: 10:49470424-49470424
39 ERCC6 NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) Insertion Pathogenic 190168 rs786205172 GRCh37: 10:50678398-50678399
GRCh38: 10:49470352-49470353
40 ERCC8 , ERCC8-AS1 NM_001290285.1(ERCC8):c.-83_-81delinsTG Indel Pathogenic 430102 rs1131691783 GRCh37: 5:60214194-60214196
GRCh38: 5:60918367-60918369
41 ERCC6 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) SNV Pathogenic 190160 rs151242354 GRCh37: 10:50690735-50690735
GRCh38: 10:49482689-49482689
42 ERCC4 NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) SNV Pathogenic 16580 rs121913049 GRCh37: 16:14041848-14041848
GRCh38: 16:13947991-13947991
43 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) SNV Pathogenic 1708 rs121917903 GRCh37: 10:50740782-50740782
GRCh38: 10:49532736-49532736
44 ERCC4 NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) Deletion Pathogenic 541251 rs1555468482 GRCh37: 16:14029520-14029520
GRCh38: 16:13935663-13935663
45 ERCC4 NC_000016.10:g.(?_13928022)_(13928241_?)del Deletion Pathogenic 541254 GRCh37: 16:14021879-14022098
GRCh38: 16:13928022-13928241
46 ERCC6 NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) SNV Pathogenic 553383 rs751448793 GRCh37: 10:50682102-50682102
GRCh38: 10:49474056-49474056
47 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) SNV Pathogenic 1703 rs121917902 GRCh37: 10:50732119-50732119
GRCh38: 10:49524073-49524073
48 ERCC6 NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) SNV Pathogenic 31578 rs185142838 GRCh37: 10:50669519-50669519
GRCh38: 10:49461473-49461473
49 ERCC6 NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) SNV Pathogenic 557733 rs1554787509 GRCh37: 10:50682111-50682111
GRCh38: 10:49474065-49474065
50 ERCC6 NM_000124.4(ERCC6):c.2830-2A>G SNV Pathogenic 190163 rs373227647 GRCh37: 10:50680518-50680518
GRCh38: 10:49472472-49472472

Copy number variations for Cockayne Syndrome from CNVD:

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

Expression for Cockayne Syndrome

Search GEO for disease gene expression data for Cockayne Syndrome.

Pathways for Cockayne Syndrome

Pathways related to Cockayne Syndrome according to KEGG:

36
# 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
Show member pathways
13.07 XPC XPA TCEA1 POLR2L PARP1 GTF2H2
2
Show member pathways
12.69 TCEA1 POLR2L GTF2H2 ERCC3 ERCC2
3
Show member pathways
12.54 XPC XPA POLR1C PARP1 GTF2H2 ERCC8
4 12.35 XPC XPA ERCC4 ERCC3 ERCC2 ERCC1
5
Show member pathways
12.17 XPC XPA TCEA1 POLR2L PARP1 GTF2H2
6
Show member pathways
11.89 POLR2L POLR1C GTF2H2 ERCC6 ERCC3 ERCC2
7
Show member pathways
11.8 XPC XPA PARP1 GTF2H2 ERCC8 ERCC6
8 11.56 POLR2L POLR1C HPRT1
9 11.56 XPC XPA GTF2H2 ERCC3 ERCC2
10 11.26 XPA ERCC6 ERCC4 ERCC3 ERCC2 ERCC1

GO Terms for Cockayne Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.31 XPC XPA TCEA1 POLR2L POLR1C PARP1
2 nucleoplasm GO:0005654 10.03 XPC XPA TCEA1 POLR2L POLR1C PGBD3
3 site of DNA damage GO:0090734 9.61 XPC PARP1 ERCC6
4 transcription factor TFIID complex GO:0005669 9.56 TCEA1 GTF2H2 ERCC3 ERCC2
5 transcription factor TFIIH holo complex GO:0005675 9.54 GTF2H2 ERCC3 ERCC2
6 RNA polymerase III complex GO:0005666 9.51 POLR2L POLR1C
7 transcription factor TFIIH core complex GO:0000439 9.5 GTF2H2 ERCC3 ERCC2
8 RNA polymerase I complex GO:0005736 9.49 POLR2L POLR1C
9 DNA replication factor A complex GO:0005662 9.48 XPA ERCC5
10 ERCC4-ERCC1 complex GO:0070522 9.46 ERCC4 ERCC1
11 nucleotide-excision repair factor 1 complex GO:0000110 9.13 XPA ERCC4 ERCC1
12 nucleotide-excision repair complex GO:0000109 9.02 XPC ERCC8 ERCC5 ERCC4 ERCC1

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.26 XPC XPA PARP1 GTF2H2 ERCC8 ERCC6
2 transcription by RNA polymerase II GO:0006366 10.11 TCEA1 POLR2L PARP1 GTF2H2 ERCC6 ERCC3
3 response to UV GO:0009411 10.05 GTF2H2 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
4 global genome nucleotide-excision repair GO:0070911 10.03 XPC XPA PARP1 GTF2H2 ERCC4 ERCC3
5 transcription elongation from RNA polymerase I promoter GO:0006362 10.01 POLR2L POLR1C GTF2H2 ERCC6 ERCC3 ERCC2
6 nucleotide-excision repair, DNA incision GO:0033683 10.01 XPA PARP1 GTF2H2 ERCC5 ERCC4 ERCC3
7 nucleotide-excision repair, DNA duplex unwinding GO:0000717 10 XPC XPA PARP1 GTF2H2 ERCC3 ERCC2
8 nucleotide-excision repair, preincision complex assembly GO:0006294 10 XPC XPA PARP1 GTF2H2 ERCC5 ERCC3
9 response to oxidative stress GO:0006979 9.99 ERCC8 ERCC6 ERCC3 ERCC2 ERCC1
10 transcription initiation from RNA polymerase II promoter GO:0006367 9.97 POLR2L GTF2H2 ERCC3 ERCC2
11 transcription elongation from RNA polymerase II promoter GO:0006368 9.97 TCEA1 POLR2L GTF2H2 ERCC3 ERCC2
12 UV protection GO:0009650 9.97 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
13 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.97 XPA PARP1 GTF2H2 ERCC5 ERCC4 ERCC3
14 transcription initiation from RNA polymerase I promoter GO:0006361 9.96 POLR2L POLR1C GTF2H2 ERCC3 ERCC2
15 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.95 ERCC5 ERCC4 ERCC1 BIVM-ERCC5
16 termination of RNA polymerase I transcription GO:0006363 9.95 POLR2L POLR1C GTF2H2 ERCC3 ERCC2
17 transcription, DNA-templated GO:0006351 9.93 TCEA1 POLR2L POLR1C GTF2H2
18 DNA duplex unwinding GO:0032508 9.92 ERCC8 ERCC6 ERCC3 ERCC2
19 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.92 XPA PARP1 GTF2H2 ERCC5 ERCC4 ERCC3
20 7-methylguanosine mRNA capping GO:0006370 9.88 POLR2L GTF2H2 ERCC3 ERCC2
21 regulation of mitotic cell cycle phase transition GO:1901990 9.86 XPC ERCC3 ERCC2
22 multicellular organism growth GO:0035264 9.86 ERCC6 ERCC2 ERCC1
23 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.86 XPA PARP1 GTF2H2 ERCC5 ERCC4 ERCC3
24 nucleotide-excision repair GO:0006289 9.85 XPC XPA GTF2H2 ERCC8 ERCC5 ERCC4
25 embryonic organ development GO:0048568 9.83 ERCC3 ERCC2 ERCC1
26 positive regulation of gene expression, epigenetic GO:0045815 9.81 POLR2L POLR1C ERCC6
27 nucleotide-excision repair, DNA damage recognition GO:0000715 9.8 XPC XPA PARP1
28 response to X-ray GO:0010165 9.79 ERCC8 ERCC6 ERCC1
29 response to auditory stimulus GO:0010996 9.78 XPC XPA ERCC8
30 UV-damage excision repair GO:0070914 9.77 XPC XPA ERCC1
31 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.7 ERCC6 ERCC1
32 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.7 PARP1 ERCC6
33 transcription-coupled nucleotide-excision repair GO:0006283 9.7 XPA TCEA1 POLR2L GTF2H2 ERCC8 ERCC6
34 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.69 PARP1 ERCC4
35 single strand break repair GO:0000012 9.69 ERCC8 ERCC6
36 response to UV-B GO:0010224 9.68 XPC ERCC6
37 transcription by RNA polymerase I GO:0006360 9.68 POLR2L POLR1C
38 double-strand break repair via classical nonhomologous end joining GO:0097680 9.68 ERCC8 ERCC6
39 hair cell differentiation GO:0035315 9.67 ERCC3 ERCC2
40 lymphocyte proliferation GO:0046651 9.67 HPRT1 HELLS
41 negative regulation of telomere maintenance GO:0032205 9.66 ERCC4 ERCC1
42 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.66 XPC ERCC1
43 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.65 ERCC4 ERCC1
44 telomeric DNA-containing double minutes formation GO:0061819 9.64 ERCC4 ERCC1
45 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.63 XPA ERCC4
46 DNA repair GO:0006281 9.4 XPC XPA PARP1 GTF2H2 ERCC8 ERCC6

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.14 HELLS ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
2 DNA binding GO:0003677 9.97 XPC XPA TCEA1 POLR2L POLR1C PARP1
3 protein-containing complex binding GO:0044877 9.89 XPC NDUFAF2 ERCC8 ERCC6 ERCC5
4 helicase activity GO:0004386 9.78 HELLS ERCC6 ERCC3 ERCC2
5 protein C-terminus binding GO:0008022 9.77 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
6 nuclease activity GO:0004518 9.76 ERCC5 ERCC4 ERCC1 BIVM-ERCC5
7 endonuclease activity GO:0004519 9.71 ERCC5 ERCC4 ERCC1 BIVM-ERCC5
8 promoter-specific chromatin binding GO:1990841 9.69 ERCC4 ERCC3 ERCC1
9 single-stranded DNA binding GO:0003697 9.65 XPC ERCC5 ERCC4 ERCC1 BIVM-ERCC5
10 DNA helicase activity GO:0003678 9.62 ERCC8 ERCC6 ERCC3 ERCC2
11 endodeoxyribonuclease activity GO:0004520 9.57 ERCC5 ERCC4
12 TFIID-class transcription factor complex binding GO:0001094 9.56 ERCC4 ERCC1
13 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.55 ERCC4 ERCC1
14 bubble DNA binding GO:0000405 9.52 XPC ERCC5
15 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.43 ERCC4 ERCC1
16 damaged DNA binding GO:0003684 9.43 XPC XPA ERCC4 ERCC3 ERCC2 ERCC1
17 protein N-terminus binding GO:0047485 9.17 PARP1 GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3

Sources for Cockayne Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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