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CS
MCID: CCK001
MIFTS: 66

Cockayne Syndrome (CS)

Categories: Bone diseases, Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin 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 77 25 54 26 60 38 30 56 6 45 15 74
Cockayne's Syndrome 12 77 54
Dwarfism-Retinal Atrophy-Deafness Syndrome 54 26
Neill-Dingwall Syndrome 12
Progeria-Like Syndrome 54
Progeroid Nanism 54
Cs 26

Characteristics:

Orphanet epidemiological data:

60
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 Cancer diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Skin diseases Mental diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
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 : 54 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 i 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 DNA Double-Strand Break Repair. The drugs Mannitol and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and skin, and related phenotypes are intellectual disability and ataxia

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 : 26 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 : 77 Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive... more...

GeneReviews: NBK1342
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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 201)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome type i 34.4 ERCC4 ERCC6 ERCC8
2 cockayne syndrome type iii 34.4 ERCC6 ERCC8
3 cockayne syndrome type ii 34.3 ERCC1 ERCC6 ERCC8
4 cockayne syndrome b 34.3 ERCC4 ERCC6 ERCC8
5 cockayne syndrome a 34.1 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8
6 xeroderma pigmentosum, complementation group g 32.7 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
7 xeroderma pigmentosum, complementation group b 32.7 ERCC1 ERCC2 ERCC3 ERCC5 XPA
8 xeroderma pigmentosum, complementation group f 32.6 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
9 xeroderma pigmentosum, complementation group d 32.4 ERCC1 ERCC2 ERCC3 XPA
10 cerebrooculofacioskeletal syndrome 1 32.4 ERCC2 ERCC5 ERCC6
11 cerebro-oculo-facio-skeletal syndrome 32.2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
12 uv-sensitive syndrome 30.0 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 PGBD3
13 xeroderma pigmentosum, complementation group c 29.9 DDB2 ERCC3 XPA XPC
14 trichothiodystrophy 1, photosensitive 29.8 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 HELLS
15 xeroderma pigmentosum group e 29.7 DDB1 DDB2 XPA XPC
16 fanconi anemia, complementation group a 29.5 ERCC1 ERCC2 ERCC4 HELLS HPRT1
17 xeroderma pigmentosum, variant type 28.9 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
18 primary pigmented nodular adrenocortical disease 11.5
19 cowden syndrome 11.5
20 acth-independent macronodular adrenal hyperplasia 11.5
21 cowden syndrome 1 11.4
22 cardiogenic shock 11.3
23 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome 11.3
24 diabetes mellitus, noninsulin-dependent 11.3
25 mucopolysaccharidosis, type vii 11.3
26 mitochondrial metabolism disease 11.3
27 body mass index quantitative trait locus 11 11.2
28 anemia, sideroblastic, and spinocerebellar ataxia 11.2
29 carnitine palmitoyltransferase ii deficiency, infantile 11.2
30 cerebral creatine deficiency syndrome 2 11.2
31 endemic typhus 11.2
32 cerebral creatine deficiency syndrome 11.2
33 bartonellosis 11.2
34 critical illness polyneuropathy 11.2
35 leber hereditary optic neuropathy 11.2
36 epidermolysis bullosa simplex, localized 11.2
37 cerebrooculofacioskeletal syndrome 3 11.1
38 congenital intrauterine infection-like syndrome 11.1
39 crouzon syndrome 11.1
40 progeroid short stature with pigmented nevi 11.0
41 flynn-aird syndrome 11.0
42 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification 11.0
43 cerebrooculofacioskeletal syndrome 2 11.0
44 cerebrooculofacioskeletal syndrome 4 11.0
45 uv-sensitive syndrome 2 11.0
46 retinoblastoma 11.0
47 aging 10.3
48 horns in sheep 10.2
49 premature ovarian failure 11 10.2 ERCC6 PGBD3
50 neuropathy 10.2

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:

60 33 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
4 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
5 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
6 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
7 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
8 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
9 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
10 retinopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000488
11 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008066
12 peripheral neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009830
13 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
14 failure to thrive in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001531
15 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
16 prematurely aged appearance 60 33 hallmark (90%) Very frequent (99-80%) HP:0007495
17 mental deterioration 60 33 hallmark (90%) Very frequent (99-80%) HP:0001268
18 cutaneous photosensitivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000992
19 abnormality of the sense of smell 60 33 hallmark (90%) Very frequent (99-80%) HP:0004408
20 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
21 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
22 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
23 cerebral calcification 60 33 frequent (33%) Frequent (79-30%) HP:0002514
24 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
25 open bite 60 33 frequent (33%) Frequent (79-30%) HP:0010807
26 joint stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0001387
27 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
28 decreased nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0000762
29 atypical scarring of skin 60 33 frequent (33%) Frequent (79-30%) HP:0000987
30 abnormality of the foot 60 33 frequent (33%) Frequent (79-30%) HP:0001760
31 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
32 aplasia/hypoplasia of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0008065
33 fine hair 60 33 frequent (33%) Frequent (79-30%) HP:0002213
34 erythema 60 33 frequent (33%) Frequent (79-30%) HP:0010783
35 generalized hyperpigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007440
36 large hands 60 33 frequent (33%) Frequent (79-30%) HP:0001176
37 sparse hair 60 33 frequent (33%) Frequent (79-30%) HP:0008070
38 prominent superficial veins 60 33 frequent (33%) Frequent (79-30%) HP:0001015
39 abnormal chorioretinal morphology 33 frequent (33%) HP:0000532
40 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
41 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
42 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
43 abnormality of retinal pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007703
44 fatigue 60 33 occasional (7.5%) Occasional (29-5%) HP:0012378
45 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
46 delayed eruption of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000684
47 platyspondyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000926
48 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
49 nephrotic syndrome 60 33 occasional (7.5%) Occasional (29-5%) HP:0000100
50 arthrogryposis multiplex congenita 60 33 occasional (7.5%) Occasional (29-5%) HP:0002804

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

27 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.49 ERCC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.49 GTF2H2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.49 ERCC6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.49 ERCC6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.49 ERCC6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.49 GTF2H2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.49 ERCC2 ERCC6 GTF2H2 TCEA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.49 ERCC6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.49 ERCC6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.49 ERCC6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.49 GTF2H2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.49 ERCC2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.49 ERCC6 TCEA1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.49 ERCC6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.49 ERCC2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.49 ERCC6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.49 GTF2H2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.49 ERCC6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.49 ERCC2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.49 TCEA1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.49 ERCC6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.49 TCEA1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.49 ERCC6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.49 ERCC2 GTF2H2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.49 GTF2H2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.49 GTF2H2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.49 GTF2H2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.49 ERCC2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.49 TCEA1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.49 TCEA1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.49 ERCC6
32 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.49 TCEA1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.49 TCEA1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.49 TCEA1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.49 GTF2H2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.49 TCEA1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.49 ERCC6
38 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.49 ERCC2
39 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.77 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
40 Decreased HIV-1 infection GR00226-A 9.56 ERCC1 ERCC5 GTF2H2 XAB2
41 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.44 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8
42 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.44 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8

MGI Mouse Phenotypes related to Cockayne Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2 growth/size/body region MP:0005378 10.18 DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
3 integument MP:0010771 10.06 DDB2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
4 mortality/aging MP:0010768 10.03 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
5 liver/biliary system MP:0005370 9.8 ERCC1 ERCC4 ERCC5 ERCC6 HPRT1 TCEA1
6 neoplasm MP:0002006 9.61 DDB2 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8
7 vision/eye MP:0005391 9.17 DDB1 ERCC2 ERCC6 ERCC8 HPRT1 XPA
Sources

Drugs & Therapeutics for Cockayne Syndrome

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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
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
5 Pharmaceutical Solutions Phase 1, Phase 2
6 Antifungal Agents Phase 2
7 Immunologic Factors Phase 2
8 Antibiotics, Antitubercular Phase 2
9 Anti-Bacterial Agents Phase 2
10 Anti-Infective Agents Phase 2
11 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 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
7 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 30
Sources

Anatomical Context for Cockayne Syndrome

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MalaCards organs/tissues related to Cockayne Syndrome:

42
Brain, Bone, Skin, Eye, B Cells, Kidney, Breast
Sources

Publications for Cockayne Syndrome

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Articles related to Cockayne Syndrome:

(show top 50) (show all 501)
# Title Authors Year
1
Renal disease in Cockayne syndrome. ( 30630117 )
2019
2
Structural basis of ubiquitin recognition by the winged-helix domain of Cockayne syndrome group B protein. ( 30753618 )
2019
3
Cockayne syndrome in adults: complete retinal dysfunction exploration of two case reports. ( 30820731 )
2019
4
Cochlear implantation in pediatric patients with Cockayne Syndrome. ( 29447894 )
2018
5
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome. ( 29422660 )
2018
6
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. ( 29572252 )
2018
7
Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state. ( 29625109 )
2018
8
Temporal Bone Histopathology in Cockayne Syndrome. ( 29649050 )
2018
9
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. ( 29749609 )
2018
10
Two Cockayne Syndrome Patients with a Novel Splice Site Mutation - Clinical and Metabolic Analyses. ( 29944916 )
2018
11
Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome. ( 29742419 )
2018
12
Cockayne Syndrome Misdiagnosed as Cerebral Palsy. ( 30279719 )
2018
13
Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence. ( 30009828 )
2018
14
Mechanistic insights into the regulation of transcription and transcription-coupled DNA repair by Cockayne syndrome protein B. ( 30032309 )
2018
15
Exome sequencing revealed a novel deletion in the ERCC8 gene in an Iranian family with Cockayne syndrome. ( 30039856 )
2018
16
Cockayne Syndrome Complicated by Moyamoya Vasculopathy and Stroke. ( 30089552 )
2018
17
Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review. ( 30113454 )
2018
18
HDAC inhibition improves autophagic and lysosomal function to prevent loss of subcutaneous fat in a mouse model of Cockayne syndrome. ( 30158153 )
2018
19
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features. ( 30165384 )
2018
20
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene. ( 30200888 )
2018
21
Cockayne syndrome in siblings. ( 30233029 )
2018
22
Poly(ADP-ribose) polymerase 1 (PARP1) promotes oxidative stress-induced association of Cockayne syndrome group B protein with chromatin. ( 30266807 )
2018
23
Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case. ( 30317357 )
2018
24
The Cockayne syndrome protein B is involved in the repair of 5-AZA-2'-deoxycytidine-induced DNA lesions. ( 30416680 )
2018
25
Regulation of the Intranuclear Distribution of the Cockayne Syndrome Proteins. ( 30504782 )
2018
26
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. ( 28440418 )
2017
27
Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A. ( 28273366 )
2017
28
Cockayne syndrome with intracranial calcification, hypomyelination, and cerebral atrophy. ( 28149095 )
2017
29
Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports. ( 29390291 )
2017
30
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. ( 29262528 )
2017
31
Renal Involvement in 2 Siblings With Cockayne Syndrome. ( 28575888 )
2017
32
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. ( 29057985 )
2017
33
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome. ( 28848724 )
2017
34
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome. ( 28333167 )
2017
35
Cockayne syndrome B protein regulates recruitment of the Elongin A ubiquitin ligase to sites of DNA damage. ( 28292928 )
2017
36
Xeroderma pigmentosum-Cockayne syndrome complex. ( 28376890 )
2017
37
Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation. ( 29225035 )
2017
38
Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice. ( 27122034 )
2016
39
Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA. ( 27791127 )
2016
40
Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome. ( 26616585 )
2016
41
A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair. ( 27060134 )
2016
42
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. ( 27186691 )
2016
43
Cockayne syndrome type 3 (type C) - A disorder encountered rarely. ( 27727854 )
2016
44
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. ( 26620705 )
2016
45
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. ( 27303919 )
2016
46
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. ( 26749132 )
2016
47
Discrepancy between electroencephalography and hemodynamics in a patient with Cockayne syndrome during general anesthesia. ( 27871568 )
2016
48
PERIPHERAL RETINAL VASCULOPATHY IN COCKAYNE SYNDROME. ( 27124796 )
2016
49
Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony. ( 26755826 )
2016
50
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. ( 26972010 )
2016
Sources

Variations for Cockayne Syndrome

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ClinVar genetic disease variations for Cockayne Syndrome:

6 (show top 50) (show all 450)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC8 NM_000082.3(ERCC8): c.435T> C (p.Tyr145=) single nucleotide variant Benign rs4647100 GRCh38 Chromosome 5, 60904838: 60904838
2 ERCC8 NM_000082.3(ERCC8): c.435T> C (p.Tyr145=) single nucleotide variant Benign rs4647100 GRCh37 Chromosome 5, 60200665: 60200665
3 ERCC8 NM_000082.3(ERCC8): c.363T> C (p.Asp121=) single nucleotide variant Conflicting interpretations of pathogenicity rs4647088 GRCh38 Chromosome 5, 60918301: 60918301
4 ERCC8 NM_000082.3(ERCC8): c.363T> C (p.Asp121=) single nucleotide variant Conflicting interpretations of pathogenicity rs4647088 GRCh37 Chromosome 5, 60214128: 60214128
5 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh37 Chromosome 10, 50678829: 50678829
6 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh38 Chromosome 10, 49470783: 49470783
7 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
8 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
9 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
10 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
11 ERCC6 NM_000124.3(ERCC6): c.1821+7C> T single nucleotide variant Benign rs4253132 GRCh37 Chromosome 10, 50701156: 50701156
12 ERCC6 NM_000124.3(ERCC6): c.1821+7C> T single nucleotide variant Benign rs4253132 GRCh38 Chromosome 10, 49493110: 49493110
13 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
14 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
15 ERCC6 NM_000124.3(ERCC6): c.670C> T (p.Leu224Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150935953 GRCh37 Chromosome 10, 50732806: 50732806
16 ERCC6 NM_000124.3(ERCC6): c.670C> T (p.Leu224Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150935953 GRCh38 Chromosome 10, 49524760: 49524760
17 ERCC6 NM_000124.3(ERCC6): c.150G> A (p.Val50=) single nucleotide variant Likely benign rs80133923 GRCh37 Chromosome 10, 50740861: 50740861
18 ERCC6 NM_000124.3(ERCC6): c.150G> A (p.Val50=) single nucleotide variant Likely benign rs80133923 GRCh38 Chromosome 10, 49532815: 49532815
19 ERCC6 NM_000124.3(ERCC6): c.2048G> A (p.Arg683Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148845653 GRCh37 Chromosome 10, 50690854: 50690854
20 ERCC6 NM_000124.3(ERCC6): c.2048G> A (p.Arg683Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148845653 GRCh38 Chromosome 10, 49482808: 49482808
21 ERCC8 NM_000082.3(ERCC8): c.1080T> C (p.Ala360=) single nucleotide variant Benign/Likely benign rs4647130 GRCh37 Chromosome 5, 60183309: 60183309
22 ERCC8 NM_000082.3(ERCC8): c.1080T> C (p.Ala360=) single nucleotide variant Benign/Likely benign rs4647130 GRCh38 Chromosome 5, 60887482: 60887482
23 ERCC6 NM_000124.3(ERCC6): c.2403C> T (p.Ala801=) single nucleotide variant Likely benign rs114896216 GRCh37 Chromosome 10, 50682268: 50682268
24 ERCC6 NM_000124.3(ERCC6): c.2403C> T (p.Ala801=) single nucleotide variant Likely benign rs114896216 GRCh38 Chromosome 10, 49474222: 49474222
25 ERCC6 NM_000124.3(ERCC6): c.2924G> A (p.Arg975Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145720191 GRCh37 Chromosome 10, 50680422: 50680422
26 ERCC6 NM_000124.3(ERCC6): c.2924G> A (p.Arg975Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145720191 GRCh38 Chromosome 10, 49472376: 49472376
27 ERCC6 NM_000124.3(ERCC6): c.3061A> G (p.Ile1021Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41562713 GRCh37 Chromosome 10, 50679030: 50679030
28 ERCC6 NM_000124.3(ERCC6): c.3061A> G (p.Ile1021Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41562713 GRCh38 Chromosome 10, 49470984: 49470984
29 ERCC6 NM_000124.3(ERCC6): c.3010C> T (p.Leu1004=) single nucleotide variant Benign rs2274097 GRCh37 Chromosome 10, 50679081: 50679081
30 ERCC6 NM_000124.3(ERCC6): c.3010C> T (p.Leu1004=) single nucleotide variant Benign rs2274097 GRCh38 Chromosome 10, 49471035: 49471035
31 ERCC6 NM_000124.3(ERCC6): c.528A> G (p.Arg176=) single nucleotide variant Benign rs4253027 GRCh37 Chromosome 10, 50738781: 50738781
32 ERCC6 NM_000124.3(ERCC6): c.528A> G (p.Arg176=) single nucleotide variant Benign rs4253027 GRCh38 Chromosome 10, 49530735: 49530735
33 ERCC8 NM_000082.3(ERCC8): c.839C> A (p.Thr280Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs61754098 GRCh37 Chromosome 5, 60194107: 60194107
34 ERCC8 NM_000082.3(ERCC8): c.839C> A (p.Thr280Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs61754098 GRCh38 Chromosome 5, 60898280: 60898280
35 ERCC6 NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs4253208 GRCh37 Chromosome 10, 50678722: 50678722
36 ERCC6 NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs4253208 GRCh38 Chromosome 10, 49470676: 49470676
37 ERCC4 NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp) single nucleotide variant Uncertain significance rs121913049 GRCh37 Chromosome 16, 14041848: 14041848
38 ERCC4 NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp) single nucleotide variant Uncertain significance rs121913049 GRCh38 Chromosome 16, 13947991: 13947991
39 ERCC1 NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu) single nucleotide variant Pathogenic rs121913028 GRCh37 Chromosome 19, 45918128: 45918128
40 ERCC1 NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu) single nucleotide variant Pathogenic rs121913028 GRCh38 Chromosome 19, 45414870: 45414870
41 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Likely pathogenic rs147105770 GRCh37 Chromosome 16, 14029554: 14029554
42 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Likely pathogenic rs147105770 GRCh38 Chromosome 16, 13935697: 13935697
43 ERCC4 NM_005236.2(ERCC4): c.2624A> G (p.Glu875Gly) single nucleotide variant Benign/Likely benign rs1800124 GRCh37 Chromosome 16, 14042077: 14042077
44 ERCC4 NM_005236.2(ERCC4): c.2624A> G (p.Glu875Gly) single nucleotide variant Benign/Likely benign rs1800124 GRCh38 Chromosome 16, 13948220: 13948220
45 ERCC6 NM_000124.3(ERCC6): c.1196G> A (p.Gly399Asp) single nucleotide variant Benign rs2228528 GRCh37 Chromosome 10, 50732280: 50732280
46 ERCC6 NM_000124.3(ERCC6): c.1196G> A (p.Gly399Asp) single nucleotide variant Benign rs2228528 GRCh38 Chromosome 10, 49524234: 49524234
47 ERCC6 NM_000124.3(ERCC6): c.135C> G (p.Leu45=) single nucleotide variant Benign rs2228524 GRCh37 Chromosome 10, 50740876: 50740876
48 ERCC6 NM_000124.3(ERCC6): c.135C> G (p.Leu45=) single nucleotide variant Benign rs2228524 GRCh38 Chromosome 10, 49532830: 49532830
49 ERCC6 NM_000124.3(ERCC6): c.2751C> T (p.Gly917=) single nucleotide variant Benign rs2229760 GRCh37 Chromosome 10, 50681033: 50681033
50 ERCC6 NM_000124.3(ERCC6): c.2751C> T (p.Gly917=) single nucleotide variant Benign rs2229760 GRCh38 Chromosome 10, 49472987: 49472987

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

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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:

38
# Name Kegg Source Accession
1 Nucleotide excision repair hsa03420

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 67
Show member pathways
 13.06 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2
RNA Polymerase II Transcription Initiation And Promoter Clearance 67
Show member pathways
 12.83 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1 TCEA3
3
Regulation of TP53 Activity 67
Show member pathways
 12.77 DDB2 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1
4
Chks in Checkpoint Regulation 65
Show member pathways
 12.6 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
5
Transcription-Coupled Nucleotide Excision Repair (TC-NER) 67
Show member pathways
 12.59 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
6
DNA Damage 4
12.44 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
7
SMAD Signaling Network 65
11.94 ERCC2 ERCC3 GTF2H2 XPA XPC
8
RNA Polymerase I Promoter Escape 67
Show member pathways
 11.85 ERCC2 ERCC3 ERCC6 GTF2H2 POLR2L
9
Ubiquitin mediated proteolysis 38
11.82 DDB1 DDB2 ERCC8
10
Transcription_P53 signaling pathway 23
11.56 ERCC2 ERCC3 GTF2H2 XPA XPC
11
Nucleotide excision repair 38
Show member pathways
 11.47 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
12
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 62
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 nucleoplasm GO:0005654 9.89 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2 nuclear chromosome, telomeric region GO:0000784 9.7 DDB1 ERCC1 ERCC4
3 transcription factor TFIID complex GO:0005669 9.63 ERCC1 ERCC2 ERCC3 ERCC4 GTF2H2 TCEA1
4 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.61 DDB1 DDB2 ERCC8
5 transcription factor TFIIH holo complex GO:0005675 9.58 ERCC2 ERCC3 GTF2H2
6 transcription factor TFIIH core complex GO:0000439 9.54 ERCC2 ERCC3 GTF2H2
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 nucleotide-excision repair complex GO:0000109 9.02 ERCC1 ERCC4 ERCC5 ERCC8 XPC
13 nucleus GO:0005634 10.23 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.99 ERCC2 ERCC3 GTF2H2 POLR2L
2 transcription elongation from RNA polymerase II promoter GO:0006368 9.97 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1
3 UV protection GO:0009650 9.97 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 XPA
4 global genome nucleotide-excision repair GO:0070911 9.97 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
5 DNA duplex unwinding GO:0032508 9.96 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3
6 7-methylguanosine mRNA capping GO:0006370 9.92 ERCC2 ERCC3 GTF2H2 POLR2L
7 transcription initiation from RNA polymerase I promoter GO:0006361 9.91 ERCC2 ERCC3 GTF2H2 POLR2L
8 termination of RNA polymerase I transcription GO:0006363 9.91 ERCC2 ERCC3 GTF2H2 POLR2L
9 UV-damage excision repair GO:0070914 9.91 DDB1 DDB2 ERCC1 XPA XPC
10 nucleotide-excision repair, DNA incision GO:0033683 9.91 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
11 response to toxic substance GO:0009636 9.88 ERCC6 PGBD3 XPA
12 nucleotide-excision repair, DNA damage recognition GO:0000715 9.88 DDB1 DDB2 XPA XPC
13 response to X-ray GO:0010165 9.87 ERCC1 ERCC6 ERCC8 PGBD3
14 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.86 ERCC6 PGBD3 XPA
15 base-excision repair GO:0006284 9.85 ERCC6 PGBD3 XPA
16 response to UV-B GO:0010224 9.85 DDB2 ERCC6 PGBD3 XPC
17 regulation of mitotic cell cycle phase transition GO:1901990 9.84 DDB1 ERCC2 ERCC3 XPC
18 embryonic organ development GO:0048568 9.83 ERCC1 ERCC2 ERCC3
19 positive regulation of gene expression, epigenetic GO:0045815 9.83 ERCC6 PGBD3 POLR2L
20 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.81 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
21 response to auditory stimulus GO:0010996 9.8 ERCC8 XPA XPC
22 pyrimidine dimer repair GO:0006290 9.8 DDB2 ERCC6 PGBD3
23 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.77 ERCC1 ERCC4 ERCC5
24 positive regulation of DNA-templated transcription, elongation GO:0032786 9.7 ERCC6 PGBD3
25 activation of JNKK activity GO:0007256 9.7 ERCC6 PGBD3
26 histone H2A monoubiquitination GO:0035518 9.7 DDB1 DDB2
27 regulation of DNA-templated transcription, elongation GO:0032784 9.69 ERCC6 PGBD3
28 hair cell differentiation GO:0035315 9.69 ERCC2 ERCC3
29 response to superoxide GO:0000303 9.69 ERCC6 PGBD3
30 lymphocyte proliferation GO:0046651 9.68 HELLS HPRT1
31 negative regulation of telomere maintenance GO:0032205 9.68 ERCC1 ERCC4
32 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.67 ERCC1 ERCC4
33 telomeric DNA-containing double minutes formation GO:0061819 9.66 ERCC1 ERCC4
34 transcription elongation from RNA polymerase I promoter GO:0006362 9.66 ERCC6 PGBD3
35 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.65 ERCC4 XPA
36 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.64 ERCC2 ERCC3
37 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.61 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
38 regulation of mitotic recombination GO:0000019 9.37 ERCC2
39 nucleotide-excision repair, preincision complex assembly GO:0006294 9.23 DDB1 DDB2 ERCC2 ERCC3 ERCC5 GTF2H2
40 cellular response to DNA damage stimulus GO:0006974 10.35 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
41 DNA repair GO:0006281 10.33 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
42 transcription-coupled nucleotide-excision repair GO:0006283 10.31 DDB1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
43 transcription by RNA polymerase II GO:0006366 10.18 ERCC2 ERCC3 ERCC6 GTF2H2 PGBD3 POLR2L
44 nucleotide-excision repair GO:0006289 10.14 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
45 response to UV GO:0009411 10.11 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
46 response to oxidative stress GO:0006979 10.07 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3
47 transcription, DNA-templated GO:0006351 10.04 GTF2H2 POLR2L TCEA1 TCEA3 XAB2
48 multicellular organism growth GO:0035264 10 ERCC1 ERCC2 ERCC6 PGBD3 XPA

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.87 DDB1 DDB2 ERCC5 ERCC6 ERCC8 PGBD3
2 protein C-terminus binding GO:0008022 9.85 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 PGBD3
3 helicase activity GO:0004386 9.8 ERCC2 ERCC3 ERCC6 HELLS PGBD3
4 single-stranded DNA binding GO:0003697 9.78 ERCC1 ERCC4 ERCC5 XPC
5 nuclease activity GO:0004518 9.76 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 CTD heptapeptide repeat kinase activity GO:0008353 9.63 ERCC2 ERCC3 GTF2H2
9 DNA helicase activity GO:0003678 9.59 ERCC6 ERCC8
10 endodeoxyribonuclease activity GO:0004520 9.58 ERCC4 ERCC5
11 protein tyrosine kinase activator activity GO:0030296 9.56 ERCC6 PGBD3
12 TFIID-class transcription factor complex binding GO:0001094 9.55 ERCC1 ERCC4
13 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.54 ERCC1 ERCC4
14 bubble DNA binding GO:0000405 9.51 ERCC5 XPC
15 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.49 ERCC1 ERCC4
16 DNA-dependent ATPase activity GO:0008094 9.43 ERCC2 ERCC3 ERCC6 ERCC8 GTF2H2 PGBD3
17 damaged DNA binding GO:0003684 9.23 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
18 protein binding GO:0005515 10.41 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
19 hydrolase activity GO:0016787 10.13 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
20 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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