CS
MCID: CCK001
MIFTS: 67

Cockayne Syndrome (CS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Cockayne Syndrome

MalaCards integrated aliases for Cockayne Syndrome:

Name: Cockayne Syndrome 11 24 19 42 58 75 28 53 5 43 14 38 71
Cockayne's Syndrome 11 19 75
Dwarfism-Retinal Atrophy-Deafness Syndrome 19 42
Neill-Dingwall Syndrome 11
Progeria-Like Syndrome 19
Progeroid Nanism 19
Cs 42

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

1-9/1000000 (Europe, Europe, France, Italy, Netherlands, United Kingdom) <1/1000000 (Germany) 58

Age Of Onset:

All ages 58

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: 42 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 type iii and cockayne syndrome b. An important gene associated with Cockayne Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Homology Directed Repair and Formation of HIV elongation complex in the absence of HIV Tat. The drugs Sorbitol and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related phenotypes are postnatal growth retardation and cachexia

GARD: 19 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, very small head (microcephaly), and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities. Cockayne syndrome is caused by genetic changes in either the ERCC8 (CSA) or ERCC6 (CSB) genes. Inheritance is autosomal recessive.

Orphanet: 58 Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Disease Ontology: 11 A syndrome that is 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.

Wikipedia: 75 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 240)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome type iii 33.1 ERCC8 ERCC6
2 cockayne syndrome b 32.9 XPA UVSSA TCEA1 ERCC8 ERCC6 ERCC3
3 xeroderma pigmentosum, complementation group f 32.9 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
4 xeroderma pigmentosum-cockayne syndrome complex 32.9 ERCC5 ERCC4 ERCC3 ERCC2
5 xeroderma pigmentosum, complementation group b 32.7 XPA GTF2H2 ERCC6 ERCC3 ERCC2 ERCC1
6 cockayne syndrome a 32.6 XPC XPA UVSSA NDUFAF2 ERCC8 ERCC6
7 xeroderma pigmentosum, complementation group g 32.6 XPC XPA UVSSA GTF2H2 ERCC8 ERCC6
8 cerebrooculofacioskeletal syndrome 32.6 XPA UVSSA ERCC8 ERCC6 ERCC5 ERCC4
9 cerebrooculofacioskeletal syndrome 1 32.5 UVSSA GTF2H2 ERCC6 ERCC5 ERCC3 ERCC2
10 xeroderma pigmentosum, complementation group d 32.4 XPA ERCC3 ERCC2 ERCC1
11 cerebrooculofacioskeletal syndrome 2 32.0 ERCC6 ERCC2
12 photoparoxysmal response 1 31.7 XPA ERCC6
13 skin carcinoma 31.2 XPC XPA ERCC6 ERCC3 ERCC2 DDB2
14 xeroderma pigmentosum, complementation group c 31.1 XPC XPA ERCC6 ERCC3 ERCC2 ERCC1
15 xeroderma pigmentosum, complementation group a 30.9 XPC XPA PARP1 ERCC6 ERCC4 ERCC3
16 xeroderma pigmentosum, variant type 30.9 XPC XPA UVSSA TCEA1 POLR1C PARP1
17 de sanctis-cacchione syndrome 30.7 XPA UVSSA TCEA1 ERCC8 ERCC6 ERCC3
18 trichothiodystrophy 30.7 XPC XPA UVSSA POLR2L HELLS GTF2H2
19 uv-sensitive syndrome 30.6 XPC XPA UVSSA TCEA1 ERCC8 ERCC6
20 fanconi anemia, complementation group a 30.5 XPA PARP1 HPRT1 HELLS ERCC6 ERCC4
21 xeroderma pigmentosum group e 30.5 XPA ERCC6 DDB2 DDB1
22 xeroderma pigmentosum, complementation group e 30.5 XPC XPA ERCC5 DDB2 DDB1
23 rothmund-thomson syndrome, type 2 30.3 HELLS ERCC6 ERCC3 ERCC2
24 trichothiodystrophy 3, photosensitive 30.3 GTF2H2 ERCC6 ERCC3 ERCC2 DDB2
25 fanconi anemia, complementation group q 30.3 ERCC6 ERCC4
26 ataxia-telangiectasia 30.1 XPA PARP1 HPRT1 ERCC3
27 epidermolysis bullosa simplex localized type 11.3
28 cerebrooculofacioskeletal syndrome 3 11.2
29 cerebrooculofacioskeletal syndrome 4 11.1
30 progeroid short stature with pigmented nevi 11.0
31 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome 11.0
32 flynn-aird syndrome 11.0
33 uv-sensitive syndrome 2 11.0
34 premature aging 10.8
35 microcephaly 10.7
36 cataract 10.5
37 sensorineural hearing loss 10.5
38 hutchinson-gilford progeria syndrome 10.4
39 retinitis pigmentosa 10.4
40 neuropathy 10.4
41 peripheral nervous system disease 10.4
42 spasticity 10.4
43 parkinsonism with spasticity, x-linked 10.4 GTF2H2 ERCC3 ERCC2
44 prostate calculus 10.4 XPC ERCC3
45 late-onset retinal degeneration 10.4
46 trichothiodystrophy 2, photosensitive 10.4 ERCC3 ERCC2
47 skin benign neoplasm 10.4 XPA ERCC3 ERCC2
48 dental caries 10.3
49 cerebral atrophy 10.3
50 lynch syndrome 10.3 XPA HPRT1 ERCC6 ERCC2 ERCC1

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 30 (show top 50) (show all 124)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 postnatal growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008897
2 cachexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004326
3 mental deterioration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001268
4 cerebellar atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001272
5 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003510
6 pigmentary retinopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000580
7 progressive sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000408
8 cerebral dysmyelination 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007266
9 progressive microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000253
10 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
11 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
12 carious teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000670
13 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
HP:0002020
14 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
15 progressive visual loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0000529
16 decreased nerve conduction velocity 58 30 Frequent (33%) Frequent (79-30%)
HP:0000762
17 deeply set eye 58 30 Frequent (33%) Frequent (79-30%)
HP:0000490
18 fine hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002213
19 cutaneous photosensitivity 58 30 Frequent (33%) Frequent (79-30%)
HP:0000992
20 cerebral atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002059
21 retinal dystrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000556
22 demyelinating peripheral neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007108
23 progressive gait ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0007240
24 congenital contracture 58 30 Frequent (33%) Frequent (79-30%)
HP:0002803
25 dry hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0011359
26 premature skin wrinkling 58 30 Frequent (33%) Frequent (79-30%)
HP:0100678
27 sensorimotor neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007141
28 contractures of the large joints 58 30 Frequent (33%) Frequent (79-30%)
HP:0005781
29 reduced subcutaneous adipose tissue 58 30 Frequent (33%) Frequent (79-30%)
HP:0003758
30 gliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002171
31 basal ganglia calcification 58 30 Frequent (33%) Frequent (79-30%)
HP:0002135
32 high-frequency sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0001757
33 subcortical white matter calcifications 58 30 Frequent (33%) Frequent (79-30%)
HP:0007346
34 dense calcifications in the cerebellar dentate nucleus 58 30 Frequent (33%) Frequent (79-30%)
HP:0002461
35 patchy demyelination of subcortical white matter 58 30 Frequent (33%) Frequent (79-30%)
HP:0002545
36 enamel hypoplasia 30 Frequent (33%) HP:0006297
37 somatic sensory dysfunction 30 Frequent (33%) HP:0003474
38 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
39 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001257
40 hyperreflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001347
41 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
42 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
43 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
44 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
45 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
46 developmental regression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002376
47 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
48 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002240
49 dental malocclusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000689
50 thickened calvaria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002684

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

25 (show top 50) (show all 54)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.52 DDB2 ERCC4 ERCC5 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.52 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.52 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.51 TCEA1 ERCC8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.51 GTF2H2 ERCC8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.51 DDB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.51 DDB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.51 DDB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.51 ERCC6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.51 ERCC6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.51 GTF2H2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.51 ERCC2 ERCC6 TCEA1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.51 ERCC6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.51 TCEA1 ERCC8
15 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.51 ERCC8
16 Increased shRNA abundance (Z-score > 2) GR00366-A-142 10.51 GTF2H2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.51 ERCC1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.51 ERCC6 DDB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.51 GTF2H2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.51 ERCC6 TCEA1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.51 ERCC1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.51 ERCC6
23 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.51 ERCC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.51 PARP1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-18 10.51 ERCC1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10.51 ERCC1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.51 ERCC6
28 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.51 ERCC1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.51 TCEA1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.51 ERCC6
31 Increased shRNA abundance (Z-score > 2) GR00366-A-209 10.51 ERCC6
32 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.51 DDB1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.51 TCEA1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.51 ERCC2 GTF2H2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.51 ERCC6 PARP1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.51 GTF2H2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.51 GTF2H2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.51 ERCC8
39 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.51 ERCC2 PARP1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.51 TCEA1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.51 TCEA1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.51 TCEA1 ERCC8
43 Increased shRNA abundance (Z-score > 2) GR00366-A-53 10.51 ERCC2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.51 TCEA1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.51 TCEA1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.51 GTF2H2 DDB1 ERCC1 ERCC8 PARP1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.51 TCEA1 PARP1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.51 ERCC6
49 Increased shRNA abundance (Z-score > 2) GR00366-A-84 10.51 PARP1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.51 ERCC1

MGI Mouse Phenotypes related to Cockayne Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 growth/size/body region MP:0005378 10.28 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
3 cellular MP:0005384 10.21 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
4 behavior/neurological MP:0005386 10.17 DDB1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6
5 neoplasm MP:0002006 10.13 DDB2 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8
6 liver/biliary system MP:0005370 10 ERCC1 ERCC4 ERCC5 ERCC6 HPRT1 TCEA1
7 vision/eye MP:0005391 10 DDB1 ERCC1 ERCC2 ERCC4 ERCC6 ERCC8
8 hematopoietic system MP:0005397 9.93 DDB1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
9 mortality/aging MP:0010768 9.91 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
10 pigmentation MP:0001186 9.89 ERCC2 HELLS HPRT1 POLR1C XPA
11 integument MP:0010771 9.47 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC5

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
Sorbitol Approved, Investigational Phase 1, Phase 2 69-65-8, 50-70-4 453 6251 5780
2
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
5 Pharmaceutical Solutions Phase 1, Phase 2
6 Anti-Bacterial Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Antifungal Agents Phase 2
9 Antibiotics, Antitubercular Phase 2
10 Immunosuppressive Agents Phase 2
11 Immunologic Factors 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) Completed 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 Development of Growth Curves in Cockayne Syndrome Type 1 and Type 2 Recruiting NCT05090917
7 The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network Recruiting NCT03047369
8 Natural History Study for DNA Repair Disorders Recruiting NCT05484570
9 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
10 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 28

Anatomical Context for Cockayne Syndrome

Organs/tissues related to Cockayne Syndrome:

MalaCards : Eye, Skin, Bone, Brain, Liver, Skeletal Muscle, B Cells

Publications for Cockayne Syndrome

Articles related to Cockayne Syndrome:

(show top 50) (show all 1328)
# 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. 53 62 24 5
19329487 2009
2
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 62 24 5
29572252 2018
3
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 62 24 5
19894250 2010
4
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 53 62 5
9443879 1998
5
Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease. 62 5
32453336 2020
6
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations. 62 5
29403087 2018
7
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. 62 5
29105242 2018
8
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. 62 5
29325523 2018
9
The ERCC1 and ERCC4 (XPF) genes and gene products. 62 5
26074087 2015
10
Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 62 5
25820262 2015
11
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 62 5
23623389 2013
12
UV-induced association of the CSB remodeling protein with chromatin requires ATP-dependent relief of N-terminal autorepression. 62 5
20122405 2010
13
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. 62 5
15744458 2005
14
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. 62 5
14661080 2004
15
Molecular characterization of diffuse malignant peritoneal mesothelioma. 5
32504035 2020
16
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project. 5
32853555 2020
17
Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer. 5
32496904 2020
18
Renal disease in Cockayne syndrome. 62 24
30630117 2020
19
CSB interacts with BRCA1 in late S/G2 to promote MRN- and CtIP-mediated DNA end resection. 5
31501894 2019
20
Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia. 5
30871974 2019
21
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. 5
31130284 2019
22
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. 5
29915382 2019
23
Two Novel Mutations in the ERCC8 Gene in a Patient with Ultraviolet-sensitive Syndrome. 5
30182135 2019
24
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene. 62 24
30200888 2018
25
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F. 5
29892709 2018
26
Cochlear implantation in pediatric patients with Cockayne Syndrome. 62 24
29447894 2018
27
Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation. 62 24
29225035 2017
28
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 5
28678401 2017
29
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. 5
28767289 2017
30
Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas. 5
28878254 2017
31
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. 5
28431612 2017
32
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. 5
27528516 2016
33
Cockayne syndrome: a diffusion tensor imaging and volumetric study. 62 24
27643390 2016
34
Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA. 62 24
27791127 2016
35
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 5
27356891 2016
36
A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair. 62 24
27060134 2016
37
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 62 24
26204423 2016
38
Metronidazole Toxicity in Cockayne Syndrome: A Case Series. 62 24
26304821 2015
39
Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome. 62 24
26038566 2015
40
A nonsense mutation in the Xeroderma pigmentosum complementation group F (XPF) gene is associated with gastric carcinogenesis. 5
24412486 2014
41
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. 62 24
24154677 2013
42
Mitochondrial CSA and CSB: protein interactions and protection from ageing associated DNA mutations. 62 24
23562423 2013
43
Cockayne syndrome: the expanding clinical and mutational spectrum. 62 24
23428416 2013
44
Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome. 62 24
24324434 2013
45
A possible cranio-oro-facial phenotype in Cockayne syndrome. 62 24
23311583 2013
46
Brain vascular changes in Cockayne syndrome. 62 24
21749465 2012
47
A comprehensive description of the severity groups in Cockayne syndrome. 62 24
21480477 2011
48
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. 62 24
21108394 2010
49
ERCC6 founder mutation identified in Finnish patients with COFS syndrome. 62 24
20456449 2010
50
Neuroimaging in Cockayne syndrome. 62 24
20522568 2010

Variations for Cockayne Syndrome

ClinVar genetic disease variations for Cockayne Syndrome:

5 (show top 50) (show all 382)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC4 NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter) SNV Pathogenic
1422307 GRCh37: 16:14029040-14029040
GRCh38: 16:13935183-13935183
2 ERCC4 NM_005236.3(ERCC4):c.915del (p.Asn308fs) DEL Pathogenic
288748 rs772432152 GRCh37: 16:14024689-14024689
GRCh38: 16:13930832-13930832
3 ERCC4 NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter) SNV Pathogenic
1075759 GRCh37: 16:14014044-14014044
GRCh38: 16:13920187-13920187
4 ERCC8 NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) SNV Pathogenic
590788 rs770499406 GRCh37: 5:60194177-60194177
GRCh38: 5:60898350-60898350
5 ERCC4 NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter) SNV Pathogenic
1452810 GRCh37: 16:14014080-14014080
GRCh38: 16:13920223-13920223
6 ERCC4 NM_005236.3(ERCC4):c.793-2A>G SNV Pathogenic
942911 rs2032155264 GRCh37: 16:14024565-14024565
GRCh38: 16:13930708-13930708
7 ERCC4 NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs) DEL Pathogenic
964961 rs772899497 GRCh37: 16:14031690-14031693
GRCh38: 16:13937833-13937836
8 ERCC4 NC_000016.10:g.(?_13928022)_(13928241_?)del DEL Pathogenic
541254 GRCh37: 16:14021879-14022098
GRCh38: 16:13928022-13928241
9 ERCC4 NC_000016.10:g.(?_13920156)_(13948357_?)del DEL Pathogenic
661743 GRCh37: 16:14014013-14042214
GRCh38: 16:13920156-13948357
10 ERCC4 NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) SNV Pathogenic
664022 rs2020959 GRCh37: 16:14041622-14041622
GRCh38: 16:13947765-13947765
11 ERCC4 NM_005236.3(ERCC4):c.557_558del (p.Phe186fs) DEL Pathogenic
1400031 GRCh37: 16:14020583-14020584
GRCh38: 16:13926726-13926727
12 ERCC4 NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) SNV Pathogenic
1338473 GRCh37: 16:14020608-14020608
GRCh38: 16:13926751-13926751
13 ERCC6 NM_000124.4(ERCC6):c.2599-26A>G SNV Pathogenic
190162 rs4253196 GRCh37: 10:50681659-50681659
GRCh38: 10:49473613-49473613
14 ERCC6 NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) DEL Pathogenic
190171 rs765825423 GRCh37: 10:50669428-50669429
GRCh38: 10:49461382-49461383
15 ERCC4 NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer) DEL Pathogenic
541251 rs1555468482 GRCh37: 16:14029520-14029520
GRCh38: 16:13935663-13935663
16 ERCC4 NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) SNV Pathogenic
55829 rs147105770 GRCh37: 16:14029554-14029554
GRCh38: 16:13935697-13935697
17 ERCC4 NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) DUP Pathogenic
55828 rs397509404 GRCh37: 16:14029518-14029519
GRCh38: 16:13935661-13935662
18 ERCC4 NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) SNV Pathogenic
16580 rs121913049 GRCh37: 16:14041848-14041848
GRCh38: 16:13947991-13947991
19 NDUFAF2, ERCC8 NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) SNV Pathogenic
1716 rs121434324 GRCh37: 5:60240799-60240799
GRCh38: 5:60944972-60944972
20 ERCC6 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) SNV Pathogenic
190160 rs151242354 GRCh37: 10:50690735-50690735
GRCh38: 10:49482689-49482689
21 ERCC4 NM_005236.3(ERCC4):c.580_584+1del DEL Likely Pathogenic
840550 rs776329282 GRCh37: 16:14020607-14020612
GRCh38: 16:13926750-13926755
22 ERCC4 NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) SNV Likely Pathogenic
55824 rs149364215 GRCh37: 16:14041518-14041518
GRCh38: 16:13947661-13947661
23 ERCC8 NC_000005.9:g.(60200701_60214091)_(60240906_?)del DEL Likely Pathogenic
1696076 GRCh37: 5:60200701-60240906
GRCh38:
24 ERCC6 NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) SNV Likely Pathogenic
374116 rs1057518910 GRCh37: 10:50708680-50708680
GRCh38: 10:49500634-49500634
25 ERCC6 NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) SNV Likely Pathogenic
210955 rs368728467 GRCh37: 10:50682120-50682120
GRCh38: 10:49474074-49474074
26 ERCC6 NM_000124.4(ERCC6):c.1526+1G>T SNV Likely Pathogenic
190147 rs371739894 GRCh37: 10:50713929-50713929
GRCh38: 10:49505883-49505883
27 ERCC4 NM_005236.3(ERCC4):c.1102+1G>T SNV Likely Pathogenic
1066740 GRCh37: 16:14026143-14026143
GRCh38: 16:13932286-13932286
28 ERCC6 NC_000010.10:g.(50669603_50678227)_(50684357_50686399)dup DUP Likely Pathogenic
1329082 GRCh37: 10:50669603-50686399
GRCh38:
29 ERCC4 NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val) SNV Uncertain Significance
134151 rs376216413 GRCh37: 16:14029446-14029446
GRCh38: 16:13935589-13935589
30 ERCC4 NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly) SNV Uncertain Significance
240126 rs2020961 GRCh37: 16:14020532-14020532
GRCh38: 16:13926675-13926675
31 ERCC4 NM_005236.3(ERCC4):c.260G>A (p.Arg87His) SNV Uncertain Significance
541246 rs371487368 GRCh37: 16:14015940-14015940
GRCh38: 16:13922083-13922083
32 ERCC4 NM_005236.3(ERCC4):c.714G>A (p.Lys238=) SNV Uncertain Significance
541247 rs780166871 GRCh37: 16:14022014-14022014
GRCh38: 16:13928157-13928157
33 ERCC4 NM_005236.3(ERCC4):c.800G>A (p.Arg267His) SNV Uncertain Significance
929557 rs143479220 GRCh37: 16:14024574-14024574
GRCh38: 16:13930717-13930717
34 ERCC4 NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr) SNV Uncertain Significance
1385175 GRCh37: 16:14041596-14041596
GRCh38: 16:13947739-13947739
35 ERCC4 NM_005236.3(ERCC4):c.1544G>A (p.Arg515His) SNV Uncertain Significance
1048866 GRCh37: 16:14029333-14029333
GRCh38: 16:13935476-13935476
36 ERCC4 NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) SNV Uncertain Significance
1319885 GRCh37: 16:14029444-14029444
GRCh38: 16:13935587-13935587
37 ERCC4 NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser) SNV Uncertain Significance
1376507 GRCh37: 16:14028156-14028156
GRCh38: 16:13934299-13934299
38 ERCC4 NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr) SNV Uncertain Significance
1381433 GRCh37: 16:14014165-14014165
GRCh38: 16:13920308-13920308
39 ERCC4 NM_005236.3(ERCC4):c.1620G>A (p.Ser540=) SNV Uncertain Significance
1404196 GRCh37: 16:14029409-14029409
GRCh38: 16:13935552-13935552
40 ERCC4 NM_005236.3(ERCC4):c.541G>A (p.Val181Met) SNV Uncertain Significance
1397332 GRCh37: 16:14020570-14020570
GRCh38: 16:13926713-13926713
41 ERCC4 NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr) SNV Uncertain Significance
1392130 GRCh37: 16:14042127-14042127
GRCh38: 16:13948270-13948270
42 ERCC4 NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala) SNV Uncertain Significance
1398105 GRCh37: 16:14026029-14026029
GRCh38: 16:13932172-13932172
43 ERCC4 NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro) SNV Uncertain Significance
1410080 GRCh37: 16:14024604-14024604
GRCh38: 16:13930747-13930747
44 ERCC4 NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu) SNV Uncertain Significance
1010118 rs765535723 GRCh37: 16:14026130-14026130
GRCh38: 16:13932273-13932273
45 ERCC4 NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser) SNV Uncertain Significance
1037862 rs1298488189 GRCh37: 16:14029125-14029125
GRCh38: 16:13935268-13935268
46 ERCC4 NM_005236.3(ERCC4):c.532G>T (p.Val178Leu) SNV Uncertain Significance
474207 rs149927607 GRCh37: 16:14020561-14020561
GRCh38: 16:13926704-13926704
47 ERCC4 NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) SNV Uncertain Significance
646508 rs141101671 GRCh37: 16:14022003-14022003
GRCh38: 16:13928146-13928146
48 ERCC4 NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly) SNV Uncertain Significance
864299 rs146764714 GRCh37: 16:14041743-14041743
GRCh38: 16:13947886-13947886
49 ERCC4 NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn) SNV Uncertain Significance
435078 rs774643449 GRCh37: 16:14028056-14028056
GRCh38: 16:13934199-13934199
50 ERCC4 NM_005236.3(ERCC4):c.2723T>A (p.Val908Asp) SNV Uncertain Significance
1411816 GRCh37: 16:14042176-14042176
GRCh38: 16:13948319-13948319

Copy number variations for Cockayne Syndrome from CNVD:

6
# 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 GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2
Show member pathways
12.96 TCEA1 POLR2L GTF2H2 ERCC3 ERCC2 DDB2
3
Show member pathways
12.79 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
4
Show member pathways
12.77 TCEA1 POLR2L GTF2H2 ERCC3 ERCC2
5
Show member pathways
12.77 TCEA1 POLR2L GTF2H2 ERCC3 ERCC2
6
Show member pathways
12.74 TCEA1 POLR2L GTF2H2 ERCC3 ERCC2 DDB2
7 12.44 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
8
Show member pathways
12.36 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
9
Show member pathways
11.93 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
10
Show member pathways
11.83 POLR2L POLR1C GTF2H2 ERCC6 ERCC3 ERCC2
11 11.66 XPC ERCC5 DDB2
12 11.58 HPRT1 POLR1C POLR2L
13 11.56 XPC XPA GTF2H2 ERCC3 ERCC2
14 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 16)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.75 XPC XPA TCEA1 POLR2L POLR1C PARP1
2 nucleoplasm GO:0005654 10.39 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
3 chromosome, telomeric region GO:0000781 10.14 DDB1 ERCC1 ERCC4 PARP1
4 chromosome GO:0005694 10.04 XPC UVSSA PARP1 ERCC5 ERCC4 DDB2
5 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.95 ERCC8 DDB2 DDB1
6 transcription factor TFIID complex GO:0005669 9.92 TCEA1 GTF2H2 ERCC3 ERCC2
7 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.91 ERCC8 DDB2 DDB1
8 transcription factor TFIIH holo complex GO:0005675 9.88 ERCC2 ERCC3 GTF2H2
9 RNA polymerase I complex GO:0005736 9.86 POLR2L POLR1C
10 site of DNA damage GO:0090734 9.86 DDB2 ERCC6 PARP1 XPC
11 transcription factor TFIIH core complex GO:0000439 9.85 GTF2H2 ERCC3 ERCC2
12 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.81 DDB2 DDB1
13 ERCC4-ERCC1 complex GO:0070522 9.76 ERCC4 ERCC1
14 DNA replication factor A complex GO:0005662 9.52 XPA ERCC5
15 nucleotide-excision repair factor 1 complex GO:0000110 9.43 XPA ERCC4 ERCC1
16 nucleotide-excision repair complex GO:0000109 9.32 XPC ERCC8 ERCC5 ERCC4 ERCC1

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 10.34 TCEA1 POLR2L PARP1 GTF2H2 ERCC6 ERCC3
2 response to oxidative stress GO:0006979 10.21 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8
3 cellular response to DNA damage stimulus GO:0006974 10.21 UVSSA PARP1 GTF2H2 ERCC8 ERCC6 ERCC5
4 DNA repair GO:0006281 10.2 XPC XPA UVSSA PARP1 GTF2H2 ERCC8
5 cellular response to UV GO:0034644 10.13 PARP1 ERCC4 DDB2 DDB1
6 UV protection GO:0009650 10.11 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
7 UV-damage excision repair GO:0070914 10.1 XPC XPA ERCC1 DDB2 DDB1
8 transcription-coupled nucleotide-excision repair GO:0006283 10.1 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 UVSSA
9 response to X-ray GO:0010165 10.03 ERCC8 ERCC6 ERCC1
10 regulation of mitotic cell cycle phase transition GO:1901990 10.03 DDB1 ERCC2 ERCC3 XPC
11 DNA-templated transcription GO:0006351 10.02 GTF2H2 POLR1C POLR2L TCEA1
12 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.96 PARP1 ERCC4
13 transcription by RNA polymerase I GO:0006360 9.95 POLR2L POLR1C
14 single strand break repair GO:0000012 9.94 ERCC8 ERCC6
15 lymphocyte proliferation GO:0046651 9.94 HPRT1 HELLS
16 response to UV-B GO:0010224 9.93 XPC ERCC6
17 hair cell differentiation GO:0035315 9.93 ERCC3 ERCC2
18 nucleotide-excision repair GO:0006289 9.93 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
19 double-strand break repair via classical nonhomologous end joining GO:0097680 9.92 ERCC8 ERCC6
20 negative regulation of telomere maintenance GO:0032205 9.91 ERCC4 ERCC1
21 transcription elongation by RNA polymerase I GO:0006362 9.91 ERCC6 ERCC2
22 pyrimidine dimer repair GO:0006290 9.9 ERCC6 DDB2
23 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.89 ERCC4 ERCC1
24 telomeric DNA-containing double minutes formation GO:0061819 9.88 ERCC4 ERCC1
25 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.88 XPC ERCC1
26 obsolete nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.88 ERCC5 ERCC4 ERCC1
27 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.87 ERCC4 XPA
28 obsolete nucleotide-excision repair, DNA incision GO:0033683 9.76 XPA ERCC3 ERCC2
29 obsolete nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.72 ERCC5 ERCC4
30 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.71 ERCC3 ERCC2
31 nucleic acid metabolic process GO:0090304 9.65 ERCC5 ERCC2
32 response to UV GO:0009411 9.55 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.23 XPC XPA TCEA1 POLR2L POLR1C PARP1
2 protein-containing complex binding GO:0044877 10.1 DDB1 DDB2 ERCC5 ERCC6 ERCC8 NDUFAF2
3 single-stranded DNA binding GO:0003697 10.03 ERCC1 ERCC4 ERCC5 XPC
4 protein C-terminus binding GO:0008022 10.02 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
5 promoter-specific chromatin binding GO:1990841 9.99 ERCC4 ERCC3 ERCC1
6 TFIID-class transcription factor complex binding GO:0001094 9.83 ERCC4 ERCC1
7 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.8 ERCC4 ERCC1
8 protein N-terminus binding GO:0047485 9.8 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GTF2H2
9 bubble DNA binding GO:0000405 9.78 XPC ERCC5
10 helicase activity GO:0004386 9.77 HELLS ERCC6 ERCC3 ERCC2
11 DNA helicase activity GO:0003678 9.76 ERCC6 ERCC3 ERCC2
12 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.71 ERCC4 ERCC1
13 damaged DNA binding GO:0003684 9.62 XPC XPA PARP1 ERCC5 ERCC4 ERCC3

Sources for Cockayne Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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