CS
MCID: CCK001
MIFTS: 66

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 74 24 52 25 58 36 29 54 6 43 15 71
Cockayne's Syndrome 12 74 52
Dwarfism-Retinal Atrophy-Deafness Syndrome 52 25
Neill-Dingwall Syndrome 12
Progeria-Like Syndrome 52
Syndrome, Cockayne 39
Progeroid Nanism 52
Cs 25

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

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. 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 type iii. 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 Regulation of TP53 Activity. The drugs Mannitol and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are intellectual disability and carious teeth

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.

NIH Rare Diseases : 52 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 : 74 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 453)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome b 34.9 POLR2L PGBD3 ERCC8 ERCC6 ERCC1
2 cockayne syndrome type iii 34.8 ERCC8 ERCC6
3 cockayne syndrome a 34.6 POLR2L ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
4 xeroderma pigmentosum-cockayne syndrome complex 34.2 ERCC5 ERCC4 ERCC3 ERCC2
5 xeroderma pigmentosum, complementation group f 33.7 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
6 cerebrooculofacioskeletal syndrome 1 33.3 PGBD3 ERCC6 ERCC5 ERCC2 ERCC1
7 cerebro-oculo-facio-skeletal syndrome 32.9 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
8 xeroderma pigmentosum, complementation group b 32.7 XPC XPA UVSSA GTF2H2 ERCC8 ERCC6
9 xeroderma pigmentosum, complementation group g 32.7 XPC XPA UVSSA OGG1 GTF2H2 ERCC8
10 xeroderma pigmentosum, complementation group d 32.0 XPC XPA OGG1 GTF2H2 ERCC8 ERCC6
11 uv-sensitive syndrome 31.9 XPA UVSSA TCEA1 PGBD3 OGG1 ERCC8
12 autosomal recessive disease 31.4 XPA ERCC6 ERCC3 ERCC2 ERCC1
13 hutchinson-gilford progeria syndrome 31.0 XPA HELLS ERCC8 ERCC6 ERCC4 ERCC1
14 skin carcinoma 30.9 XPC XPA ERCC6 ERCC3 ERCC2 DDB2
15 uv-sensitive syndrome 1 30.9 PGBD3 ERCC6
16 de sanctis-cacchione syndrome 30.8 PGBD3 ERCC6
17 trichothiodystrophy 30.7 XPA HELLS GTF2H2 ERCC6 ERCC5 ERCC4
18 xeroderma pigmentosum, complementation group c 30.6 XPC XPA ERCC6 ERCC3 ERCC1 DDB2
19 xeroderma pigmentosum, complementation group a 30.6 XPA PARP1 ERCC6 ERCC2 ERCC1 DDB2
20 mutagen sensitivity 30.4 XPC XPA ERCC2
21 enophthalmos 30.2 ERCC8 ERCC6
22 xeroderma pigmentosum, complementation group e 30.2 XPC XPA ERCC5 DDB2 DDB1
23 xeroderma pigmentosum, variant type 30.2 XPC XPA UVSSA POLR2L PARP1 OGG1
24 fanconi anemia, complementation group a 30.0 XPA PARP1 HPRT1 HELLS ERCC6 ERCC4
25 xeroderma pigmentosum group e 29.5 XPC XPA UVSSA ERCC8 ERCC6 ERCC5
26 cowden syndrome 12.1
27 crouzon syndrome 11.8
28 acth-independent macronodular adrenal hyperplasia 11.7
29 primary pigmented nodular adrenocortical disease 11.7
30 cerebrooculofacioskeletal syndrome 3 11.6
31 hypertrophic cardiomyopathy 11.5
32 cerebrooculofacioskeletal syndrome 4 11.5
33 cerebrooculofacioskeletal syndrome 2 11.5
34 cardiogenic shock 11.5
35 costello syndrome 11.5
36 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome 11.5
37 christianson syndrome 11.5
38 cowden syndrome 1 11.4
39 heart disease 11.4
40 mucopolysaccharidosis, type vii 11.4
41 epidermolysis bullosa simplex, localized 11.3
42 congenital intrauterine infection-like syndrome 11.3
43 diabetes mellitus, noninsulin-dependent 11.3
44 body mass index quantitative trait locus 11 11.2
45 kearns-sayre syndrome 11.2
46 epidemic typhus 11.2
47 glycogen storage disease 11.2
48 neuromuscular disease 11.2
49 mitochondrial metabolism disease 11.2
50 senile cataract 11.2

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 155)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Occasional (29-5%) HP:0001249
2 carious teeth 58 31 hallmark (90%) Frequent (79-30%) HP:0000670
3 spasticity 58 31 hallmark (90%) Occasional (29-5%) HP:0001257
4 ataxia 58 31 hallmark (90%) Frequent (79-30%) HP:0001251
5 peripheral neuropathy 58 31 hallmark (90%) Frequent (79-30%) HP:0009830
6 cutaneous photosensitivity 58 31 hallmark (90%) Frequent (79-30%) HP:0000992
7 hyperreflexia 58 31 hallmark (90%) Occasional (29-5%) HP:0001347
8 deeply set eye 58 31 hallmark (90%) Frequent (79-30%) HP:0000490
9 mental deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001268
10 macrotia 31 hallmark (90%) HP:0000400
11 microcephaly 31 hallmark (90%) HP:0000252
12 sensorineural hearing impairment 31 hallmark (90%) HP:0000407
13 short stature 31 hallmark (90%) HP:0004322
14 retinopathy 31 hallmark (90%) HP:0000488
15 feeding difficulties 31 hallmark (90%) HP:0011968
16 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
17 failure to thrive in infancy 31 hallmark (90%) HP:0001531
18 prematurely aged appearance 31 hallmark (90%) HP:0007495
19 abnormality of the sense of smell 31 hallmark (90%) HP:0004408
20 kyphosis 58 31 frequent (33%) Occasional (29-5%) HP:0002808
21 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
22 strabismus 58 31 frequent (33%) Occasional (29-5%) HP:0000486
23 hypertension 58 31 frequent (33%) Occasional (29-5%) HP:0000822
24 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
25 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
26 open bite 31 frequent (33%) HP:0010807
27 joint stiffness 31 frequent (33%) HP:0001387
28 eeg abnormality 31 frequent (33%) HP:0002353
29 erythema 31 frequent (33%) HP:0010783
30 tremor 31 frequent (33%) HP:0001337
31 atypical scarring of skin 31 frequent (33%) HP:0000987
32 cerebral cortical atrophy 31 frequent (33%) HP:0002120
33 aplasia/hypoplasia of the skin 31 frequent (33%) HP:0008065
34 abnormality of the foot 31 frequent (33%) HP:0001760
35 generalized hyperpigmentation 31 frequent (33%) HP:0007440
36 large hands 31 frequent (33%) HP:0001176
37 sparse hair 31 frequent (33%) HP:0008070
38 prominent superficial veins 31 frequent (33%) HP:0001015
39 abnormal chorioretinal morphology 31 frequent (33%) HP:0000532
40 cataract 58 31 occasional (7.5%) Frequent (79-30%) HP:0000518
41 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
42 abnormality of retinal pigmentation 58 31 occasional (7.5%) Very frequent (99-80%) HP:0007703
43 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
44 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
45 microphthalmia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000568
46 fatigue 31 occasional (7.5%) HP:0012378
47 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
48 telangiectasia of the skin 31 occasional (7.5%) HP:0100585
49 glomerulopathy 31 occasional (7.5%) HP:0100820
50 delayed eruption of teeth 31 occasional (7.5%) HP:0000684

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

26 (show top 50) (show all 55)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-101 10.2 ERCC2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 10.2 ERCC6
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 10.2 GTF2H2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.2 ERCC6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 10.2 ERCC6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 10.2 ERCC6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 10.2 ERCC2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.2 ERCC2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.2 ERCC2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-188 10.2 ERCC6
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 10.2 GTF2H2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.2 ERCC2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.2 ERCC6
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.2 ERCC6
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-201 10.2 ERCC2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 10.2 ERCC6
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.2 GTF2H2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.2 ERCC2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-44 10.2 ERCC6
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.2 GTF2H2
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-80 10.2 ERCC2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.2 ERCC6
23 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.2 ERCC8
24 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.2 ERCC8 GTF2H2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.2 DDB1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.2 DDB1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.2 DDB1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.2 GTF2H2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.2 ERCC8
30 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.2 ERCC8
31 Increased shRNA abundance (Z-score > 2) GR00366-A-142 10.2 GTF2H2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.2 ERCC1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.2 DDB1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.2 GTF2H2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.2 ERCC1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.2 ERCC1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.2 PARP1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-18 10.2 ERCC1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10.2 ERCC1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.2 ERCC1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.2 DDB1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.2 GTF2H2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.2 PARP1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.2 GTF2H2
45 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.2 GTF2H2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.2 ERCC8
47 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.2 PARP1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.2 ERCC8
49 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.2 DDB1 ERCC1 ERCC8 GTF2H2 PARP1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.2 PARP1

MGI Mouse Phenotypes related to Cockayne Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.3 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2 growth/size/body region MP:0005378 10.28 DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
3 homeostasis/metabolism MP:0005376 10.24 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 behavior/neurological MP:0005386 10.22 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 HELLS
5 hematopoietic system MP:0005397 10.14 ERCC1 ERCC2 ERCC5 ERCC6 ERCC8 HELLS
6 integument MP:0010771 10.1 DDB2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
7 mortality/aging MP:0010768 10.09 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
8 liver/biliary system MP:0005370 9.86 ERCC1 ERCC4 ERCC5 ERCC6 HPRT1 OGG1
9 neoplasm MP:0002006 9.65 DDB2 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8
10 vision/eye MP:0005391 9.28 DDB1 ERCC1 ERCC2 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 6251 453
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 46835353
5 Pharmaceutical Solutions Phase 1, Phase 2
6 Anti-Infective Agents Phase 2
7 Immunologic Factors Phase 2
8 Immunosuppressive Agents Phase 2
9 Antifungal Agents Phase 2
10 Anti-Bacterial Agents Phase 2
11 Antibiotics, Antitubercular 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 Metabolic Study of Cockayne Syndrome Recruiting NCT03044210
5 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
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
Skin, Brain, Bone, Eye, Liver, Lung, B Cells

Publications for Cockayne Syndrome

Articles related to Cockayne Syndrome:

(show top 50) (show all 1193)
# Title Authors PMID Year
1
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 24
21108394 2010
2
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. 6 61 54
10767341 2000
3
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. 61 6 54
10196384 1999
4
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 61 54 6
9443879 1998
5
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. 24 54 61
19329487 2009
6
Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. 6 61
18446857 2008
7
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. 6 61
15744458 2005
8
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. 61 6
14661080 2004
9
Cockayne Syndrome 61 6
20301516 2000
10
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
11
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. 6 61
7664335 1995
12
Renal disease in Cockayne syndrome. 24 61
30630117 2020
13
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene. 61 24
30200888 2018
14
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 24 61
29572252 2018
15
Cochlear implantation in pediatric patients with Cockayne Syndrome. 24 61
29447894 2018
16
Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation. 61 24
29225035 2017
17
Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA. 61 24
27791127 2016
18
Cockayne syndrome: a diffusion tensor imaging and volumetric study. 24 61
27643390 2016
19
A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair. 24 61
27060134 2016
20
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 61 24
26204423 2016
21
Metronidazole Toxicity in Cockayne Syndrome: A Case Series. 24 61
26304821 2015
22
Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome. 61 24
26038566 2015
23
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. 61 24
24154677 2013
24
Mitochondrial CSA and CSB: protein interactions and protection from ageing associated DNA mutations. 24 61
23562423 2013
25
Cockayne syndrome: the expanding clinical and mutational spectrum. 61 24
23428416 2013
26
A possible cranio-oro-facial phenotype in Cockayne syndrome. 61 24
23311583 2013
27
Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome. 61 24
24324434 2013
28
Brain vascular changes in Cockayne syndrome. 24 61
21749465 2012
29
A comprehensive description of the severity groups in Cockayne syndrome. 24 61
21480477 2011
30
ERCC6 founder mutation identified in Finnish patients with COFS syndrome. 61 24
20456449 2010
31
Neuroimaging in Cockayne syndrome. 61 24
20522568 2010
32
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 24 61
19894250 2010
33
Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration. 24 61
19647012 2009
34
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. 61 24
18628313 2008
35
Response of motor complications in Cockayne syndrome to carbidopa-levodopa. 24 61
18695064 2008
36
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. 24 61
18329345 2008
37
Cockayne syndrome in 2 siblings. 61 24
15951889 2005
38
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. 24 61
15486090 2004
39
MICRO syndrome: an entity distinct from COFS syndrome. 61 24
15216543 2004
40
Spinal anaesthesia for caesarean section in a patient with Cockayne syndrome. 24 61
15321464 2003
41
Cockayne's Syndrome: case report of a successful pregnancy. 61 24
14511973 2003
42
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency. 61 24
8068222 1994
43
Cockayne syndrome: review of 140 cases. 24 61
1308368 1992
44
CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 24
26218421 2015
45
A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives. 24
20171149 2010
46
Rad26p, a transcription-coupled repair factor, is recruited to the site of DNA lesion in an elongating RNA polymerase II-dependent manner in vivo. 61 54
20007604 2010
47
Transcription factor IIH - the protein complex with multiple functions. 54 61
20429618 2010
48
Nucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactor. 54 61
19580815 2009
49
Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases. 54 61
19442249 2009
50
Cockayne syndrome group B protein is engaged in processing of DNA adducts of lipid peroxidation product trans-4-hydroxy-2-nonenal. 61 54
19481676 2009

Variations for Cockayne Syndrome

ClinVar genetic disease variations for Cockayne Syndrome:

6 (show top 50) (show all 155) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC4 NC_000016.10:g.(?_13928022)_(13928241_?)deldeletion Pathogenic 541254 16:14021879-14022098 16:13928022-13928241
2 ERCC4 NC_000016.10:g.(?_13920156)_(13948357_?)deldeletion Pathogenic 661743 16:14014013-14042214 16:13920156-13948357
3 ERCC4 NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer)deletion Pathogenic 541251 rs1555468482 16:14029520-14029520 16:13935663-13935663
4 ERCC1 NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)SNV Pathogenic 16778 rs121913028 19:45918128-45918128 19:45414870-45414870
5 ERCC1 NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter)SNV Pathogenic 264678 rs886039224 19:45918145-45918145 19:45414887-45414887
6 ERCC4 NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp)SNV Pathogenic/Likely pathogenic 55829 rs147105770 16:14029554-14029554 16:13935697-13935697
7 ERCC4 NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser)SNV Likely pathogenic 55824 rs149364215 16:14041518-14041518 16:13947661-13947661
8 ERCC4 NM_005236.3(ERCC4):c.580_584+1deldeletion Likely pathogenic 840550 16:14020607-14020612 16:13926750-13926755
9 ERCC6 NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro)SNV Likely pathogenic 374116 rs1057518910 10:50708680-50708680 10:49500634-49500634
10 ERCC4 NM_005236.2(ERCC4):c.2292C>T (p.Ser764=)SNV Conflicting interpretations of pathogenicity 317821 rs139406689 16:14041745-14041745 16:13947888-13947888
11 ERCC4 NM_005236.2(ERCC4):c.1284G>A (p.Ala428=)SNV Conflicting interpretations of pathogenicity 317811 rs3136151 16:14029073-14029073 16:13935216-13935216
12 ERCC6 NM_000124.4(ERCC6):c.2697G>A (p.Thr899=)SNV Conflicting interpretations of pathogenicity 300060 rs761802751 10:50681535-50681535 10:49473489-49473489
13 ERCC4 NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)SNV Conflicting interpretations of pathogenicity 16580 rs121913049 16:14041848-14041848 16:13947991-13947991
14 ERCC4 NM_005236.2(ERCC4):c.2117T>C (p.Ile706Thr)SNV Conflicting interpretations of pathogenicity 134142 rs1800069 16:14041570-14041570 16:13947713-13947713
15 ERCC4 NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser)SNV Conflicting interpretations of pathogenicity 134148 rs1799802 16:14028081-14028081 16:13934224-13934224
16 ERCC6 NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)SNV Conflicting interpretations of pathogenicity 287219 rs55698015 10:50690806-50690806 10:49482760-49482760
17 ERCC6 NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)SNV Conflicting interpretations of pathogenicity 252466 rs148095899 10:50740611-50740611 10:49532565-49532565
18 ERCC4 NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg)SNV Conflicting interpretations of pathogenicity 134153 rs41552412 16:14029352-14029352 16:13935495-13935495
19 ERCC6 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)SNV Conflicting interpretations of pathogenicity 190164 rs139007661 10:50678884-50678884 10:49470838-49470838
20 ERCC6 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)SNV Conflicting interpretations of pathogenicity 190156 rs61760163 10:50690906-50690906 10:49482860-49482860
21 ERCC6 NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)SNV Conflicting interpretations of pathogenicity 194590 rs145720191 10:50680422-50680422 10:49472376-49472376
22 ERCC4 NM_005236.2(ERCC4):c.2427G>A (p.Thr809=)SNV Conflicting interpretations of pathogenicity 435080 rs2020960 16:14041880-14041880 16:13948023-13948023
23 ERCC4 NM_005236.2(ERCC4):c.228G>A (p.Leu76=)SNV Conflicting interpretations of pathogenicity 474204 rs61760162 16:14015908-14015908 16:13922051-13922051
24 ERCC4 NM_005236.2(ERCC4):c.325G>A (p.Ala109Thr)SNV Conflicting interpretations of pathogenicity 474205 rs148791570 16:14016005-14016005 16:13922148-13922148
25 ERCC4 NM_005236.2(ERCC4):c.532G>T (p.Val178Leu)SNV Uncertain significance 474207 rs149927607 16:14020561-14020561 16:13926704-13926704
26 ERCC4 NM_005236.2(ERCC4):c.1031A>T (p.Tyr344Phe)SNV Uncertain significance 474200 rs145851520 16:14026071-14026071 16:13932214-13932214
27 ERCC4 NM_005236.2(ERCC4):c.260G>A (p.Arg87His)SNV Uncertain significance 541246 rs371487368 16:14015940-14015940 16:13922083-13922083
28 ERCC4 NM_005236.2(ERCC4):c.1633G>A (p.Gly545Arg)SNV Uncertain significance 541249 rs773007457 16:14029422-14029422 16:13935565-13935565
29 ERCC4 NM_005236.2(ERCC4):c.241G>A (p.Val81Ile)SNV Uncertain significance 408562 rs55761944 16:14015921-14015921 16:13922064-13922064
30 ERCC4 NM_005236.2(ERCC4):c.41C>T (p.Pro14Leu)SNV Uncertain significance 408565 rs754622238 16:14014063-14014063 16:13920206-13920206
31 ERCC4 NM_005236.2(ERCC4):c.889T>A (p.Tyr297Asn)SNV Uncertain significance 408563 rs778480216 16:14024663-14024663 16:13930806-13930806
32 ERCC4 NM_005236.2(ERCC4):c.1212A>G (p.Pro404=)SNV Uncertain significance 408564 rs752193295 16:14028158-14028158 16:13934301-13934301
33 ERCC4 NM_005236.2(ERCC4):c.2591G>A (p.Arg864His)SNV Uncertain significance 541245 rs1211543560 16:14042044-14042044 16:13948187-13948187
34 ERCC4 NM_005236.2(ERCC4):c.413G>A (p.Arg138Lys)SNV Uncertain significance 566287 rs1567243693 16:14020442-14020442 16:13926585-13926585
35 ERCC4 NM_005236.2(ERCC4):c.890A>G (p.Tyr297Cys)SNV Uncertain significance 575691 rs996851583 16:14024664-14024664 16:13930807-13930807
36 ERCC4 NM_005236.2(ERCC4):c.2677A>G (p.Asn893Asp)SNV Uncertain significance 579347 rs201926295 16:14042130-14042130 16:13948273-13948273
37 ERCC4 NM_005236.2(ERCC4):c.1045G>A (p.Ala349Thr)SNV Uncertain significance 573650 rs201410515 16:14026085-14026085 16:13932228-13932228
38 ERCC4 NM_005236.2(ERCC4):c.2288C>T (p.Pro763Leu)SNV Uncertain significance 569796 rs761087753 16:14041741-14041741 16:13947884-13947884
39 ERCC4 NM_005236.2(ERCC4):c.19G>A (p.Ala7Thr)SNV Uncertain significance 568412 rs771117594 16:14014041-14014041 16:13920184-13920184
40 ERCC4 NM_005236.2(ERCC4):c.257G>A (p.Arg86His)SNV Uncertain significance 647625 16:14015937-14015937 16:13922080-13922080
41 ERCC4 NM_005236.2(ERCC4):c.703G>A (p.Ala235Thr)SNV Uncertain significance 646508 16:14022003-14022003 16:13928146-13928146
42 ERCC4 NM_005236.2(ERCC4):c.790A>G (p.Lys264Glu)SNV Uncertain significance 656025 16:14022090-14022090 16:13928233-13928233
43 ERCC4 NM_005236.2(ERCC4):c.798C>G (p.Ile266Met)SNV Uncertain significance 652281 16:14024572-14024572 16:13930715-13930715
44 ERCC4 NM_005236.2(ERCC4):c.1681A>T (p.Ser561Cys)SNV Uncertain significance 653625 16:14029470-14029470 16:13935613-13935613
45 ERCC4 NM_005236.2(ERCC4):c.1787C>A (p.Ala596Glu)SNV Uncertain significance 662825 16:14029576-14029576 16:13935719-13935719
46 ERCC4 NM_005236.2(ERCC4):c.2169C>A (p.Cys723Ter)SNV Uncertain significance 664022 16:14041622-14041622 16:13947765-13947765
47 ERCC4 NM_005236.2(ERCC4):c.2177G>A (p.Arg726His)SNV Uncertain significance 658680 16:14041630-14041630 16:13947773-13947773
48 ERCC4 NM_005236.2(ERCC4):c.2186T>C (p.Ile729Thr)SNV Uncertain significance 647874 16:14041639-14041639 16:13947782-13947782
49 ERCC4 NM_005236.2(ERCC4):c.2295G>T (p.Lys765Asn)SNV Uncertain significance 653697 16:14041748-14041748 16:13947891-13947891
50 ERCC4 NM_005236.2(ERCC4):c.2423C>G (p.Ala808Gly)SNV Uncertain significance 655804 16:14041876-14041876 16:13948019-13948019

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
12.75 TCEA1 POLR2L GTF2H2 ERCC3 ERCC2 DDB2
2
Show member pathways
12.64 XPC XPA PARP1 OGG1 GTF2H2 ERCC8
3
Show member pathways
12.59 XPC XPA UVSSA TCEA1 POLR2L PARP1
4
Show member pathways
12.55 XPC XPA UVSSA TCEA1 POLR2L PARP1
5 12.44 XPC XPA ERCC4 ERCC3 ERCC2 ERCC1
6
Show member pathways
12.03 XPC XPA PARP1 GTF2H2 ERCC8 ERCC6
7
Show member pathways
11.85 POLR2L GTF2H2 ERCC6 ERCC3 ERCC2
8 11.56 XPC XPA GTF2H2 ERCC3 ERCC2
9 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 14)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.19 XPC XPA TCEA1 POLR2L PARP1 OGG1
2 nucleoplasm GO:0005654 9.91 XPC XPA UVSSA TCEA1 POLR2L PGBD3
3 nuclear chromosome, telomeric region GO:0000784 9.78 PARP1 ERCC4 ERCC1 DDB1
4 transcription factor TFIID complex GO:0005669 9.67 TCEA1 GTF2H2 ERCC3 ERCC2
5 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.63 ERCC8 DDB2 DDB1
6 site of DNA damage GO:0090734 9.61 XPC PARP1 ERCC6
7 transcription factor TFIIH holo complex GO:0005675 9.58 GTF2H2 ERCC3 ERCC2
8 DNA replication factor A complex GO:0005662 9.54 XPA ERCC5
9 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.52 ERCC8 DDB1
10 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.51 DDB2 DDB1
11 transcription factor TFIIH core complex GO:0000439 9.5 GTF2H2 ERCC3 ERCC2
12 ERCC4-ERCC1 complex GO:0070522 9.49 ERCC4 ERCC1
13 nucleotide-excision repair factor 1 complex GO:0000110 9.33 XPA ERCC4 ERCC1
14 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 47)
# Name GO ID Score Top Affiliating Genes
1 global genome nucleotide-excision repair GO:0070911 10.18 XPC XPA PARP1 GTF2H2 ERCC4 ERCC3
2 response to UV GO:0009411 10.16 XPA UVSSA GTF2H2 ERCC8 ERCC6 ERCC5
3 nucleotide-excision repair, preincision complex assembly GO:0006294 10.15 XPC XPA PARP1 GTF2H2 ERCC5 ERCC3
4 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10.13 XPA PARP1 GTF2H2 ERCC5 ERCC4 ERCC3
5 transcription by RNA polymerase II GO:0006366 10.12 TCEA1 POLR2L PARP1 GTF2H2 ERCC6 ERCC3
6 nucleotide-excision repair, DNA duplex unwinding GO:0000717 10.11 XPC XPA PARP1 GTF2H2 ERCC3 ERCC2
7 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 10.1 XPA PARP1 GTF2H2 ERCC5 ERCC4 ERCC3
8 response to oxidative stress GO:0006979 10.09 XPA OGG1 ERCC8 ERCC6 ERCC3 ERCC2
9 nucleotide-excision repair, preincision complex stabilization GO:0006293 10.07 XPA PARP1 GTF2H2 ERCC5 ERCC4 ERCC3
10 nucleotide-excision repair, DNA incision GO:0033683 10.06 XPA PARP1 OGG1 GTF2H2 ERCC5 ERCC4
11 nucleotide-excision repair GO:0006289 10.03 XPC XPA OGG1 GTF2H2 ERCC8 ERCC5
12 UV protection GO:0009650 10 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
13 transcription elongation from RNA polymerase II promoter GO:0006368 9.98 TCEA1 POLR2L GTF2H2 ERCC3 ERCC2
14 transcription initiation from RNA polymerase II promoter GO:0006367 9.97 POLR2L GTF2H2 ERCC3 ERCC2
15 transcription elongation from RNA polymerase I promoter GO:0006362 9.97 POLR2L GTF2H2 ERCC6 ERCC3 ERCC2
16 transcription-coupled nucleotide-excision repair GO:0006283 9.97 XPA UVSSA TCEA1 POLR2L GTF2H2 ERCC8
17 nucleotide-excision repair, DNA damage recognition GO:0000715 9.96 XPC XPA PARP1 DDB2 DDB1
18 multicellular organism growth GO:0035264 9.94 XPA ERCC6 ERCC2 ERCC1
19 regulation of mitotic cell cycle phase transition GO:1901990 9.93 XPC ERCC3 ERCC2 DDB1
20 UV-damage excision repair GO:0070914 9.93 XPC XPA ERCC1 DDB2 DDB1
21 DNA duplex unwinding GO:0032508 9.92 ERCC8 ERCC6 ERCC3 ERCC2
22 transcription initiation from RNA polymerase I promoter GO:0006361 9.91 POLR2L GTF2H2 ERCC3 ERCC2
23 7-methylguanosine mRNA capping GO:0006370 9.9 POLR2L GTF2H2 ERCC3 ERCC2
24 termination of RNA polymerase I transcription GO:0006363 9.89 POLR2L GTF2H2 ERCC3 ERCC2
25 transcription, DNA-templated GO:0006351 9.88 TCEA1 POLR2L GTF2H2
26 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.87 ERCC5 ERCC4 ERCC1
27 embryonic organ development GO:0048568 9.84 ERCC3 ERCC2 ERCC1
28 base-excision repair GO:0006284 9.83 XPA OGG1 ERCC6
29 cellular response to DNA damage stimulus GO:0006974 9.83 XPC XPA UVSSA PARP1 OGG1 GTF2H2
30 response to X-ray GO:0010165 9.81 ERCC8 ERCC6 ERCC1
31 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.79 XPA ERCC6 ERCC1
32 response to auditory stimulus GO:0010996 9.79 XPC XPA ERCC8
33 histone H2A monoubiquitination GO:0035518 9.7 DDB2 DDB1
34 single strand break repair GO:0000012 9.69 ERCC8 ERCC6
35 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.69 PARP1 ERCC6
36 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.69 PARP1 ERCC4
37 response to UV-B GO:0010224 9.68 XPC ERCC6
38 double-strand break repair via classical nonhomologous end joining GO:0097680 9.68 ERCC8 ERCC6
39 lymphocyte proliferation GO:0046651 9.68 HPRT1 HELLS
40 hair cell differentiation GO:0035315 9.68 ERCC3 ERCC2
41 pyrimidine dimer repair GO:0006290 9.67 ERCC6 DDB2
42 negative regulation of telomere maintenance GO:0032205 9.66 ERCC4 ERCC1
43 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.66 XPC ERCC1
44 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.65 ERCC4 ERCC1
45 telomeric DNA-containing double minutes formation GO:0061819 9.65 ERCC4 ERCC1
46 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.64 XPA ERCC4
47 DNA repair GO:0006281 9.5 XPC XPA UVSSA PARP1 OGG1 GTF2H2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.45 XPC XPA UVSSA TCEA1 POLR2L PARP1
2 hydrolase activity GO:0016787 10.15 OGG1 HELLS ERCC6 ERCC5 ERCC4 ERCC3
3 DNA binding GO:0003677 10 XPC XPA TCEA1 POLR2L PARP1 OGG1
4 protein-containing complex binding GO:0044877 9.88 XPC ERCC8 ERCC6 ERCC5 DDB2 DDB1
5 helicase activity GO:0004386 9.83 HELLS ERCC6 ERCC3 ERCC2
6 single-stranded DNA binding GO:0003697 9.8 XPC ERCC5 ERCC4 ERCC1
7 nuclease activity GO:0004518 9.77 ERCC5 ERCC4 ERCC1
8 protein C-terminus binding GO:0008022 9.77 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
9 endonuclease activity GO:0004519 9.76 OGG1 ERCC5 ERCC4 ERCC1
10 promoter-specific chromatin binding GO:1990841 9.71 ERCC4 ERCC3 ERCC1
11 DNA-dependent ATPase activity GO:0008094 9.65 GTF2H2 ERCC8 ERCC6 ERCC3 ERCC2
12 DNA helicase activity GO:0003678 9.62 ERCC8 ERCC6 ERCC3 ERCC2
13 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.61 GTF2H2 ERCC3 ERCC2
14 endodeoxyribonuclease activity GO:0004520 9.58 ERCC5 ERCC4
15 TFIID-class transcription factor complex binding GO:0001094 9.58 ERCC4 ERCC1
16 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.57 ERCC4 ERCC1
17 bubble DNA binding GO:0000405 9.56 XPC ERCC5
18 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.51 ERCC4 ERCC1
19 protein N-terminus binding GO:0047485 9.5 PARP1 GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3
20 damaged DNA binding GO:0003684 9.28 XPC XPA OGG1 ERCC4 ERCC3 ERCC2

Sources for Cockayne Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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