Cockayne Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CCK001 MIFTS: 65	Cockayne Syndrome 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 Expand all tables

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Aliases & Classifications for Cockayne Syndrome

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

Syndrome, Cockayne ⁴¹

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

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁶⁰

Rare neurological diseases

Rare eye diseases

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:2962

KEGG ³⁸ H00076

MeSH ⁴⁵ D003057

NCIt ⁵¹ C9460

SNOMED-CT ⁶⁹ 21086008

ICD10 ³⁴ Q87.1

MESH via Orphanet ⁴⁶ D003057

ICD10 via Orphanet ³⁵ Q87.1

UMLS via Orphanet ⁷⁵ C0009207

Orphanet ⁶⁰ ORPHA191

SNOMED-CT via HPO ⁷⁰ 111246005 111324004 12068006 more

UMLS ⁷⁴ C0009207

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Summaries for Cockayne Syndrome

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 Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, 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

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 219)

#	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	34.4	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 b	33.0	ERCC1 ERCC2 ERCC3 ERCC5 XPA
7	xeroderma pigmentosum, complementation group f	32.9	DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
8	xeroderma pigmentosum, complementation group g	32.7	DDB2 ERCC1 ERCC3 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	30.1	ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 PGBD3
13	trichothiodystrophy 1, photosensitive	30.0	ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 HELLS
14	xeroderma pigmentosum, complementation group c	29.9	DDB2 ERCC3 XPA XPC
15	xeroderma pigmentosum group e	29.6	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	cerebrooculofacioskeletal syndrome 3	11.5
22	cardiogenic shock	11.4
23	cowden syndrome 1	11.4
24	cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome	11.3
25	cerebrooculofacioskeletal syndrome 4	11.3
26	diabetes mellitus, noninsulin-dependent	11.3
27	mucopolysaccharidosis, type vii	11.3
28	mitochondrial metabolism disease	11.3
29	body mass index quantitative trait locus 11	11.2
30	anemia, sideroblastic, and spinocerebellar ataxia	11.2
31	carnitine palmitoyltransferase ii deficiency, infantile	11.2
32	cerebral creatine deficiency syndrome 2	11.2
33	endemic typhus	11.2
34	cerebral creatine deficiency syndrome	11.2
35	bartonellosis	11.2
36	critical illness polyneuropathy	11.2
37	leber hereditary optic neuropathy	11.2
38	epidermolysis bullosa simplex, localized	11.2
39	congenital intrauterine infection-like syndrome	11.2
40	crouzon syndrome	11.1
41	progeroid short stature with pigmented nevi	11.0
42	flynn-aird syndrome	11.0
43	diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification	11.0
44	cerebrooculofacioskeletal syndrome 2	11.0
45	uv-sensitive syndrome 2	11.0
46	aging	10.3
47	rheumatoid arthritis	10.3
48	horns in sheep	10.2
49	blood group, gerbich system	10.2
50	premature ovarian failure 11	10.2	ERCC6 PGBD3

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

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Symptoms & Phenotypes for Cockayne Syndrome

Human phenotypes related to Cockayne Syndrome:

⁶⁰ ³³ (show top 50) (show all 63)

#	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 41)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-101	10.48	ERCC2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	10.48	GTF2H2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	10.48	ERCC6
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	10.48	ERCC6
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	10.48	ERCC6
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-130	10.48	GTF2H2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	10.48	ERCC2 ERCC6 GTF2H2 TCEA1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-136	10.48	ERCC6
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-137	10.48	ERCC6
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	10.48	ERCC6
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	10.48	GTF2H2
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-159	10.48	ERCC2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	10.48	ERCC6 TCEA1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	10.48	ERCC6
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	10.48	ERCC2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	10.48	ERCC6
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-19	10.48	GTF2H2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-2	10.48	ERCC6
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-201	10.48	ERCC2
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	10.48	TCEA1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	10.48	ERCC6
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	10.48	TCEA1
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	10.48	ERCC6
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-25	10.48	ERCC2 GTF2H2
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-30	10.48	GTF2H2
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-31	10.48	GTF2H2
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-36	10.48	GTF2H2
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	10.48	ERCC2
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	10.48	TCEA1
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	10.48	TCEA1
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-44	10.48	ERCC6
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-52	10.48	TCEA1
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-54	10.48	TCEA1
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	10.48	TCEA1
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	10.48	GTF2H2
36	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	10.48	TCEA1
37	Increased shRNA abundance (Z-score > 2)	GR00366-A-80	10.48	ERCC2
38	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.77	DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
39	Decreased HIV-1 infection	GR00226-A	9.56	ERCC1 ERCC5 GTF2H2 XAB2
40	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.44	DDB2 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8
41	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

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

(show all 11)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Mannitol

Approved, Investigational

Phase 1, Phase 2

69-65-8

6251 453

Synonyms:

(2R,3R,4R,5R)-hexane-1,2,3,4,5,6-hexaol

(2R,3R,4R,5R)-Hexane-1,2,3,4,5,6-hexaol

(2R,3R,4R,5R)-hexane-1,2,3,4,5,6-hexol

(2R,3R,4R,5R)-Hexane-1,2,3,4,5,6-hexol

(L)-Mannitol

1,2,3,4,5,6-Hexanehexol

123897-58-5

133-43-7

15719_ALDRICH

15719_RIEDEL

33440_RIEDEL

33440_SIGMA

36413-61-3

4-01-00-02841 (Beilstein Handbook Reference)

5149-40-6

63559_FLUKA

63559_SIGMA

63560_FLUKA

63565_FLUKA

63565_SIGMA

69-65-8

75398-80-0

85085-15-0

87-78-5

AB1002081

AC-12776

AC1L1M49

AC1Q28E5

AI3-19511

Ambap69-65-8

AR-1J3861

bmse000099

BRN 1721898

C00392

C6H14O6

CCRIS 369

CHEBI:16899

CHEMBL689

CID6251

Cordycepate

Cordycepic acid

cpd without stereochemical designation

D-(-)-Mannitol

D00062

D008353

Diosmol

DL-Mannitol

D-mannite

D-mannitol

D-Mannitol

D-Mannitol (JP15)

Dulcite

e 421

e421

e-421

ED1D1E61-FEFB-430A-AFDC-D1F4A957FC3D

EINECS 200-711-8

EINECS 201-770-2

Hexahydroxyhexane

Hexanhexol

HSDB 714

Invenex

Isotol

LS-1588

LS-89250

M0044

M1902_SIGMA

M4125_SIAL

M8429_SIAL

M9546_SIAL

M9647_SIAL

Manicol

manita

Manitol

Maniton S

Maniton-S

Manna sugar

Manna Sugar

Mannazucker

Mannidex

Mannidex 16700

Mannigen

Mannistol

Mannit

Mannit P

Mannite

mannitol

Mannitol

Mannitol (USP)

Mannitol (VAN)

Mannitol [USAN]

Mannitol 10%

Mannitol 10% In Plastic Container

MANNITOL 10% W/ DEXTROSE 5% IN DISTILLED WATER

Mannitol 15%

Mannitol 15% In Plastic Container

MANNITOL 15% W/ DEXTROSE 5% IN SODIUM CHLORIDE 0.45%

Mannitol 20%

Mannitol 20% In Plastic Container

MANNITOL 25%

Mannitol 5%

Mannitol 5% In Plastic Container

MANNITOL 5% W/ DEXTROSE 5% IN SODIUM CHLORIDE 0.12%

Mannitolum

Mannogem 2080

Marine crystal

Marine Crystal

MLS001335977

MLS001335978

MolPort-003-927-039

MTL

Mushroom sugar

NCGC00164246-01

NCI-C50362

NSC 407017

NSC 9256

Osmitrol

Osmitrol (TN)

Osmitrol 10% In Water

OSMITROL 10% IN WATER IN PLASTIC CONTAINER

Osmitrol 15% In Water

OSMITROL 15% IN WATER IN PLASTIC CONTAINER

Osmitrol 20% In Water

OSMITROL 20% IN WATER IN PLASTIC CONTAINER

Osmitrol 5% In Water

OSMITROL 5% IN WATER IN PLASTIC CONTAINER

Osmofundin

Osmosal

Resectisol

Resectisol In Plastic Container

SDM no. 35

SDM No. 35

SMR000857324

Sorbitol-Mannitol

SORBITOL-MANNITOL IN PLASTIC CONTAINER

TL806434

UNII-3OWL53L36A

ZINC02041302

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

46835353 5284616 6436030

Synonyms:

(-)-rapamycin

(-)-Rapamycin

1fkb

1pbk

23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine

23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine

23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29

3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

53123-88-9

A422989, NSC226080

AC1L1JH9

AC1L7MJ9

AC1L9ZMV

AC-722

Ambotz53123-88-9

Antibiotic AY 22989

AY 22989

AY22989

AY-22989

BIDD:PXR0165

Bio1_000293

Bio1_000782

Bio1_001271

Bio2_000375

Bio2_000855

BiomolKI2_000084

C07909

C51H79NO13

CBiol_002007

CCRIS 9024

CHEBI:100923

CHEBI:9168

CHEMBL413

CID10213190

CID10795871

CID11949238

CID11959112

CID313006

CID478951

CID5040

CID5284616

CID5358081

CID5374464

CID5460439

CID5497196

CID5924240

CID6436030

CID6610270

CID6610346

CID6711160

CID6713081

CID9833581

CID9854379

CID9854380

CID9962926

CID9962928

D00753

DB00877

DE-109

DivK1c_006936

FT-0082351

heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy

HMS2089A21

HSDB 7284

KBio1_001880

KBio2_000410

KBio2_002978

KBio2_005546

KBio3_000779

KBio3_000780

KBioGR_000410

KBioSS_000410

LCP-Siro

LMPK06000003

LS-143290

MLS000028373

MolMap_000043

MolPort-003-959-433

MS-R001

NCGC00021305-05

nchembio.100-comp4

nchembio.2007.42-comp2

nchembio.79-comp1

nchembio762-comp1

nchembio883-comp3

NCI60_001851

NCIMech_000355

NSC 226080

NSC226080

Perceiva

QTL1_000069

R0395_SIAL

R0395_SIGMA

RAP

RAPA

Rapammune

Rapamune

Rapamune (TN)

rapamycin

Rapamycin

Rapamycin (TN)

Rapamycin C-7, analog 4

Rapamycin from Streptomyces hygroscopicus

Rapamycin Immunosuppressant Drug

RPM

S1039_Selleck

SIIA 9268A

SILA 9268A

SILA9268A

sirolimus

Sirolimus

Sirolimús

Sirolimus (RAPAMUNE)

Sirolimus (USAN/INN)

Sirolimus [USAN:BAN:INN]

Sirolimus, Rapamune,Rapamycin

Sirolimusum

SMP1_000255

SMR000058564

SpecPlus_000840

UNII-W36ZG6FT64

UNM-0000358684

Wy 090217

WY-090217

Everolimus

Approved

Phase 2

159351-69-6

70789204 6442177

Synonyms:

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

001, RAD

07741_FLUKA

159351-69-6

40-O-(2-hydroxyethyl)-rapamycin

40-O-(2-Hydroxyethyl)-rapamycin

42-O-(2-Hydroxyethyl)rapamycin

Afinitor

Certican

CERTICAN(R)

CHEMBL1201755

D02714

DB01590

everolimus

Everolimus

évérolimus

Everolimus (JAN/USAN/INN)

Everolimus [USAN]

LS-143292

MolPort-003-847-342

MolPort-003-925-588

NCGC00167512-01

NVP-RAD-001

RAD 001

RAD, SDZ

RAD001

RAD-001

RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus

RAD-001C

S1120_Selleck

SDZ RAD

SDZ-RAD

UNII-9HW64Q8G6G

Zortress

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Synonyms:

(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole

1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole

1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole

1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole

1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole

1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole

1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole

1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole

22832-87-7 (NITRATE)

22916-47-8

75319-47-0

AB00053500

AC1L1HM1

Aflorix(nitrate)

AKOS001574474

Albistat(nitrate)

Andergin(nitrate)

BPBio1_000279

BRD-A82396632-001-03-0

BRD-A82396632-008-02-7

Brentan

BRN 0965511

BSPBio_000253

BSPBio_002033

CCRIS 7924

CHEBI:6923

CHEMBL91

CID4189

Conofite(nitrate)

CPD-4501

D00416

Dactarin

Daktarin IV

DB01110

DivK1c_000156

EINECS 245-324-5

Epi-Monistat(nitrate)

Esteve brand OF miconazole

Femizol-M

Florid(nitrate)

Gyno-Daktar(nitrate)

HMS1568M15

HMS2090B21

I14-14342

IDI1_000156

imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)

Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)

Janssen cilag brand OF miconazole

Janssen-cilag brand OF miconazole

Johnston and johnston brand OF miconazole nitrate

KBio1_000156

KBio2_001445

KBio2_004013

KBio2_006581

KBio3_001533

KBioGR_000581

KBioSS_001445

Lotrimin AF(nitrate)

LS-78378

MCZ

Micantin (nitrate)

Miconasil nitrate

Miconasil Nitrate

Miconazol

Miconazol [INN-Spanish]

miconazole

Miconazole

Miconazole (JP15/USP/INN)

Miconazole [USAN:BAN:INN:JAN]

Miconazole 3

Miconazole 3 Combination Pack

Miconazole 7 Combination Pack

Miconazole esteve brand

Miconazole janssen-cilag brand

Miconazole nitrate

Miconazole nitrate salt

Miconazole-7

Miconazolo

Miconazolo [DCIT]

Miconazolum

Miconazolum [INN-Latin]

Micozole

Minostate

MJR 1762

MLS002222203

MolPort-002-557-553

Monazole 7

Monista (nitrate)

Monistat

Monistat (TN)

Monistat 1 Combination Pack

Monistat 3 Dual-Pak

Monistat 3 Vaginal Ovules

Monistat 5 Tampon

Monistat 7 Dual-Pak

Monistat 7 Vaginal Suppositories

Monistat Dual- PAK

Monistat IV

Monistat iv (TN)

Monistat-Derm

NCI60_001353

NCI60_001380

NINDS_000156

Nitrate, miconasil

Nitrate, miconazole

Novo-Miconazole Vaginal Ovules

NSC 170986

NSC169434

NSC170986

Oprea1_091955

Prestwick_335

Prestwick0_000067

Prestwick1_000067

Prestwick2_000067

Prestwick3_000067

R 18134

R-14,889

SMR001307249

SPBio_000976

SPBio_002174

Spectrum_000965

Spectrum2_001048

Spectrum3_000507

Spectrum4_000061

Spectrum5_001297

STK834405

STOCK1S-93556

UNII-7NNO0D7S5M

Vusion

Zimycan

Pharmaceutical Solutions

Phase 1, Phase 2

Immunologic Factors

Phase 2

Antibiotics, Antitubercular

Phase 2

Anti-Infective Agents

Phase 2

Immunosuppressive Agents

Phase 2

Antifungal Agents

Phase 2

Anti-Bacterial 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

Genetic tests related to Cockayne Syndrome:

#	Genetic test	Affiliating Genes
1	Cockayne Syndrome ³⁰

Sources

Anatomical Context for Cockayne Syndrome

MalaCards organs/tissues related to Cockayne Syndrome:

⁴²

Skin, Bone, Brain, Eye, Lung, Breast, B Cells

Sources

Publications for Cockayne Syndrome

Articles related to Cockayne Syndrome:

(show top 50) (show all 525)

#	Title	Authors	Year
1	Rescue of premature aging defects in Cockayne syndrome stem cells by CRISPR/Cas9-mediated gene correction. ( 31037510 )	Wang S...Qiao J	2019
2	Renal disease in Cockayne syndrome. ( 30630117 )	Stern-Delfils A...Zaloszyc A	2019
3	Structural basis of ubiquitin recognition by the winged-helix domain of Cockayne syndrome group B protein. ( 30753618 )	Takahashi TS...Fukai S	2019
4	Cockayne syndrome in adults: complete retinal dysfunction exploration of two case reports. ( 30820731 )	Figueras-Roca M...S?nchez-Dalmau B	2019
5	Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence. ( 30009828 )	Cordisco S...Dellambra E	2019
6	Cockayne Syndrome Misdiagnosed as Cerebral Palsy. ( 30279719 )	Vafaee A...Norouzzadeh S	2018
7	Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case. ( 30317357 )	Metlo A...Jamali M	2018
8	The Cockayne syndrome protein B is involved in the repair of 5-AZA-2'-deoxycytidine-induced DNA lesions. ( 30416680 )	Burgos-Mor?n E...Orta ML	2018
9	Regulation of the Intranuclear Distribution of the Cockayne Syndrome Proteins. ( 30504782 )	Iyama T...Wilson DM	2018
10	Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome. ( 29422660 )	Schalk A...Calmels N	2018
11	Cochlear implantation in pediatric patients with Cockayne Syndrome. ( 29447894 )	Van Wyhe RD...Williamson RA	2018
12	TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A. ( 29531219 )	Pines A...van Attikum H	2018
13	Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. ( 29572252 )	Calmels N...Lehmann AR	2018
14	Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state. ( 29625109 )	Sin Y...Obika S	2018
15	Temporal Bone Histopathology in Cockayne Syndrome. ( 29649050 )	Handzel O...Nadol JB	2018
16	Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome. ( 29742419 )	Alupei MC...Iben S	2018
17	Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. ( 29749609 )	Ricotti R...Botta E	2018
18	Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses. ( 29944916 )	Sanchez-Roman I...Stevnsner T	2018
19	Mechanistic insights into the regulation of transcription and transcription-coupled DNA repair by Cockayne syndrome protein B. ( 30032309 )	Boetefuer EL...Fan HY	2018
20	Exome sequencing revealed a novel deletion in the ERCC8 gene in an Iranian family with Cockayne syndrome. ( 30039856 )	Mohammadi-Asl J...Kollaee A	2018
21	Cockayne Syndrome Complicated by Moyamoya Vasculopathy and Stroke. ( 30089552 )	Stowe RC...Clark GD	2018
22	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 )	Kou Y...Tian J	2018
23	HDAC inhibition improves autophagic and lysosomal function to prevent loss of subcutaneous fat in a mouse model of Cockayne syndrome. ( 30158153 )	Majora M...Krutmann J	2018
24	Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features. ( 30165384 )	Sabatella M...Vermeulen W	2018
25	First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene. ( 30200888 )	Chebly A...Chouery E	2018
26	Cockayne syndrome in siblings. ( 30233029 )	Sowmini PR...Arunan S	2018
27	Poly(ADP-ribose) polymerase 1 (PARP1) promotes oxidative stress-induced association of Cockayne syndrome group B protein with chromatin. ( 30266807 )	Boetefuer EL...Fan HY	2018
28	Cockayne syndrome with intracranial calcification, hypomyelination, and cerebral atrophy. ( 28149095 )	James J...Jose J	2017
29	PERIPHERAL RETINAL VASCULOPATHY IN COCKAYNE SYNDROME. ( 27124796 )	Trese MGJ...Besirli CG	2017
30	Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. ( 27186691 )	Wu Y...Li H	2017
31	Cockayne syndrome: Clinical features, model systems and pathways. ( 27507608 )	Karikkineth AC...Bohr VA	2017
32	UV-induced proteolysis of RNA polymerase II is mediated by VCP/p97 segregase and timely orchestration by Cockayne syndrome B protein. ( 28036256 )	He J...Wani AA	2017
33	Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A. ( 28273366 )	Gu Y...Hua Y	2017
34	Cockayne syndrome B protein regulates recruitment of the Elongin A ubiquitin ligase to sites of DNA damage. ( 28292928 )	Weems JC...Conaway RC	2017
35	A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome. ( 28333167 )	Xie H...Chen X	2017
36	Xeroderma pigmentosum-Cockayne syndrome complex. ( 28376890 )	Natale V...Raquer H	2017
37	Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. ( 28440418 )	He C...Wu Y	2017
38	Renal Involvement in 2 Siblings With Cockayne Syndrome. ( 28575888 )	Ben Chehida A...Tebib N	2017
39	A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome. ( 28848724 )	Taghdiri M...Faghihi MA	2017
40	Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. ( 29057985 )	Wang X...Chen D	2017
41	Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. ( 29262528 )	Pascucci B...Dogliotti E	2017
42	Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports. ( 29390291 )	Al Kaissi A...Gerit Kircher S	2017
43	Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation. ( 29225035 )	Epanchintsev A...Egly JM	2017
44	The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. ( 26204423 )	Wilson BT...Wilson IJ	2016
45	Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome. ( 26616585 )	Iyama T...Wilson DM	2016
46	The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. ( 26620705 )	Sin Y...Saijo M	2016
47	Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. ( 26749132 )	Wilson BT...Sutton RE	2016
48	Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony. ( 26755826 )	Vessoni AT...Muotri AR	2016
49	Valosin-containing Protein (VCP)/p97 Segregase Mediates Proteolytic Processing of Cockayne Syndrome Group B (CSB) in Damaged Chromatin. ( 26826127 )	He J...Wani AA	2016
50	Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. ( 26972010 )	Wang Y...Svejstrup JQ	2016

Sources

Genes for Cockayne Syndrome

Genes related to Cockayne Syndrome (2 elite genes):

(show all 24)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ERCC1	ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit	Protein Coding	450.74	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	20301516 10910954 7596355
2	ERCC4	ERCC Excision Repair 4, Endonuclease Catalytic Subunit	Protein Coding	444.24	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
3	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	91.84	DISEASES inferred ¹⁵ ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	9312053 17854076 18183039 (more) 10872452 19580815 12954769 8811173 9880486 11452033 16601682 19481676 8382798 11101522 17055654 12509265 12483520 11104904 8552076 16246722 11003660 10196384 9443879 18185538 11254132 19221478 18166977 17567611 17084038 18789574 17626041 10767341 19329487 18369450 14639525 7957102 18656484 8811084 8890601 12419226 17363972
4	ERCC8	ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit	Protein Coding	80.6	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	8811173 15211661 17055654 (more) 18668526 11104904 19329487 11898854 17084038 18166977 9312053
5	ERCC5	ERCC Excision Repair 5, Endonuclease	Protein Coding	75.04	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	9864391 16246722 8855246 (more) 16167068 15082767 17466625 9927729 11104904 10026181 12893972 15572672 9678065
6	ERCC3	ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit	Protein Coding	56.28	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries (show sections)	16947863 12221129 1916809 (more) 8663148 20429618 16246722 17466625 1318786 7613092 11077043 8202161 12509240 7746858 8465201 10644710 10332046 17156731 16143348 8152490 9422774 1454518 16167068
7	ERCC2	ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit	Protein Coding	54.68	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries (show sections)	11710928 9426063 15982307 (more) 19442249 1372108 7963680 10198066 18510925 17156731 18578568 9238033 16135823 7585650 14624713 11182546
8	XPA	XPA, DNA Damage Recognition And Repair Factor	Protein Coding	34.97	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	9415314 10601636 11104904
9	XPC	XPC Complex Subunit, DNA Damage Recognition And Repair Factor	Protein Coding	29.53	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	9415314
10	HELLS	Helicase, Lymphoid Specific	Protein Coding	27.08	Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	1339317 8976161 16167068 (more) 10660593 18598796 8152490 9288107 16646069 1458537 8465201 19580815
11	HPRT1	Hypoxanthine Phosphoribosyltransferase 1	Protein Coding	26.07	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	7596357
12	UVSSA	UV Stimulated Scaffold Protein A	Protein Coding	24.89	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	DDB2	Damage Specific DNA Binding Protein 2	Protein Coding	23.41	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	TCEA1	Transcription Elongation Factor A1	Protein Coding	22.38	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	11254132
15	GTF2H2	General Transcription Factor IIH Subunit 2	Protein Coding	21.54	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	8652557
16	POLR2L	RNA Polymerase II Subunit L	Protein Coding	18.14	Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	9880486 8811084 11182541 (more) 15226310 16246722 16916636 10455150 14672951 8876179 10872452 17996703 11710928
17	PGBD3	PiggyBac Transposable Element Derived 3	Protein Coding	17.69	GeneCards inferred via : Publications Variants (show sections)
18	DDB1	Damage Specific DNA Binding Protein 1	Protein Coding	14.3	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	TCEA3	Transcription Elongation Factor A3	Protein Coding	13.8	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
20	XAB2	XPA Binding Protein 2	Protein Coding	13.72	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	CUL4A	Cullin 4A	Protein Coding	13.32	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	GTF2H1	General Transcription Factor IIH Subunit 1	Protein Coding	13.32	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	POLR1C	RNA Polymerase I And III Subunit C	Protein Coding	13.02	Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	18656484
24	PARP1	Poly(ADP-Ribose) Polymerase 1	Protein Coding	13.01	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	12954769

Sources

Variations for Cockayne Syndrome

ClinVar genetic disease variations for Cockayne Syndrome:

⁶ (show top 50) (show all 450)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ERCC6	NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs4253208	GRCh37	Chromosome 10, 50678722: 50678722
2	ERCC6	NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs4253208	GRCh38	Chromosome 10, 49470676: 49470676
3	ERCC4	NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp)	single nucleotide variant	Uncertain significance	rs121913049	GRCh37	Chromosome 16, 14041848: 14041848
4	ERCC4	NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp)	single nucleotide variant	Uncertain significance	rs121913049	GRCh38	Chromosome 16, 13947991: 13947991
5	ERCC1	NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu)	single nucleotide variant	Pathogenic	rs121913028	GRCh37	Chromosome 19, 45918128: 45918128
6	ERCC1	NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu)	single nucleotide variant	Pathogenic	rs121913028	GRCh38	Chromosome 19, 45414870: 45414870
7	ERCC4	NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs147105770	GRCh37	Chromosome 16, 14029554: 14029554
8	ERCC4	NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs147105770	GRCh38	Chromosome 16, 13935697: 13935697
9	ERCC4	NM_005236.2(ERCC4): c.2624A> G (p.Glu875Gly)	single nucleotide variant	Benign/Likely benign	rs1800124	GRCh37	Chromosome 16, 14042077: 14042077
10	ERCC4	NM_005236.2(ERCC4): c.2624A> G (p.Glu875Gly)	single nucleotide variant	Benign/Likely benign	rs1800124	GRCh38	Chromosome 16, 13948220: 13948220
11	ERCC6	NM_000124.3(ERCC6): c.1196G> A (p.Gly399Asp)	single nucleotide variant	Benign	rs2228528	GRCh37	Chromosome 10, 50732280: 50732280
12	ERCC6	NM_000124.3(ERCC6): c.1196G> A (p.Gly399Asp)	single nucleotide variant	Benign	rs2228528	GRCh38	Chromosome 10, 49524234: 49524234
13	ERCC6	NM_000124.3(ERCC6): c.135C> G (p.Leu45=)	single nucleotide variant	Benign	rs2228524	GRCh37	Chromosome 10, 50740876: 50740876
14	ERCC6	NM_000124.3(ERCC6): c.135C> G (p.Leu45=)	single nucleotide variant	Benign	rs2228524	GRCh38	Chromosome 10, 49532830: 49532830
15	ERCC6	NM_000124.3(ERCC6): c.2751C> T (p.Gly917=)	single nucleotide variant	Benign	rs2229760	GRCh37	Chromosome 10, 50681033: 50681033
16	ERCC6	NM_000124.3(ERCC6): c.2751C> T (p.Gly917=)	single nucleotide variant	Benign	rs2229760	GRCh38	Chromosome 10, 49472987: 49472987
17	ERCC6	NM_000124.3(ERCC6): c.3289A> G (p.Met1097Val)	single nucleotide variant	Benign	rs2228526	GRCh37	Chromosome 10, 50678717: 50678717
18	ERCC6	NM_000124.3(ERCC6): c.3289A> G (p.Met1097Val)	single nucleotide variant	Benign	rs2228526	GRCh38	Chromosome 10, 49470671: 49470671
19	ERCC6	NM_000124.3(ERCC6): c.3637A> G (p.Arg1213Gly)	single nucleotide variant	Benign	rs2228527	GRCh37	Chromosome 10, 50678369: 50678369
20	ERCC6	NM_000124.3(ERCC6): c.3637A> G (p.Arg1213Gly)	single nucleotide variant	Benign	rs2228527	GRCh38	Chromosome 10, 49470323: 49470323
21	ERCC6	NM_000124.3(ERCC6): c.3689G> C (p.Arg1230Pro)	single nucleotide variant	Benign	rs4253211	GRCh37	Chromosome 10, 50678317: 50678317
22	ERCC6	NM_000124.3(ERCC6): c.3689G> C (p.Arg1230Pro)	single nucleotide variant	Benign	rs4253211	GRCh38	Chromosome 10, 49470271: 49470271
23	ERCC6	NM_000124.3(ERCC6): c.411G> A (p.Leu137=)	single nucleotide variant	Benign	rs4253013	GRCh37	Chromosome 10, 50740600: 50740600
24	ERCC6	NM_000124.3(ERCC6): c.411G> A (p.Leu137=)	single nucleotide variant	Benign	rs4253013	GRCh38	Chromosome 10, 49532554: 49532554
25	ERCC6	NM_000124.3(ERCC6): c.4238A> G (p.Gln1413Arg)	single nucleotide variant	Benign	rs2228529	GRCh37	Chromosome 10, 50667105: 50667105
26	ERCC6	NM_000124.3(ERCC6): c.4238A> G (p.Gln1413Arg)	single nucleotide variant	Benign	rs2228529	GRCh38	Chromosome 10, 49459059: 49459059
27	ERCC8; NDUFAF2	NM_174889.4(NDUFAF2): c.60G> A (p.Lys20=)	single nucleotide variant	Benign	rs158921	GRCh37	Chromosome 5, 60241142: 60241142
28	ERCC8; NDUFAF2	NM_174889.4(NDUFAF2): c.60G> A (p.Lys20=)	single nucleotide variant	Benign	rs158921	GRCh38	Chromosome 5, 60945315: 60945315
29	ERCC4	NM_005236.2(ERCC4): c.16C> T (p.Pro6Ser)	single nucleotide variant	Uncertain significance	rs61760160	GRCh37	Chromosome 16, 14014038: 14014038
30	ERCC4	NM_005236.2(ERCC4): c.16C> T (p.Pro6Ser)	single nucleotide variant	Uncertain significance	rs61760160	GRCh38	Chromosome 16, 13920181: 13920181
31	ERCC4	NM_005236.2(ERCC4): c.1984T> C (p.Ser662Pro)	single nucleotide variant	Benign/Likely benign	rs2020955	GRCh37	Chromosome 16, 14038659: 14038659
32	ERCC4	NM_005236.2(ERCC4): c.1984T> C (p.Ser662Pro)	single nucleotide variant	Benign/Likely benign	rs2020955	GRCh38	Chromosome 16, 13944802: 13944802
33	ERCC4	NM_005236.2(ERCC4): c.2617A> G (p.Ile873Val)	single nucleotide variant	Benign/Likely benign	rs2020957	GRCh37	Chromosome 16, 14042070: 14042070
34	ERCC4	NM_005236.2(ERCC4): c.2617A> G (p.Ile873Val)	single nucleotide variant	Benign/Likely benign	rs2020957	GRCh38	Chromosome 16, 13948213: 13948213
35	ERCC4	NM_005236.2(ERCC4): c.2545C> G (p.Gln849Glu)	single nucleotide variant	Likely benign	rs374186605	GRCh37	Chromosome 16, 14041998: 14041998
36	ERCC4	NM_005236.2(ERCC4): c.2545C> G (p.Gln849Glu)	single nucleotide variant	Likely benign	rs374186605	GRCh38	Chromosome 16, 13948141: 13948141
37	ERCC4	NM_005236.2(ERCC4): c.2579C> A (p.Ala860Asp)	single nucleotide variant	Likely benign	rs4986933	GRCh37	Chromosome 16, 14042032: 14042032
38	ERCC4	NM_005236.2(ERCC4): c.2579C> A (p.Ala860Asp)	single nucleotide variant	Likely benign	rs4986933	GRCh38	Chromosome 16, 13948175: 13948175
39	ERCC4	NM_005236.2(ERCC4): c.2734G> A (p.Gly912Arg)	single nucleotide variant	Likely benign	rs150077735	GRCh37	Chromosome 16, 14042187: 14042187
40	ERCC4	NM_005236.2(ERCC4): c.2734G> A (p.Gly912Arg)	single nucleotide variant	Likely benign	rs150077735	GRCh38	Chromosome 16, 13948330: 13948330
41	ERCC4	NM_005236.2(ERCC4): c.2117T> C (p.Ile706Thr)	single nucleotide variant	Uncertain significance	rs1800069	GRCh37	Chromosome 16, 14041570: 14041570
42	ERCC4	NM_005236.2(ERCC4): c.2117T> C (p.Ile706Thr)	single nucleotide variant	Uncertain significance	rs1800069	GRCh38	Chromosome 16, 13947713: 13947713
43	ERCC4	NM_005236.2(ERCC4): c.217A> G (p.Ile73Val)	single nucleotide variant	Uncertain significance	rs141591400	GRCh37	Chromosome 16, 14015897: 14015897
44	ERCC4	NM_005236.2(ERCC4): c.217A> G (p.Ile73Val)	single nucleotide variant	Uncertain significance	rs141591400	GRCh38	Chromosome 16, 13922040: 13922040
45	ERCC4	NM_005236.2(ERCC4): c.241G> T (p.Val81Phe)	single nucleotide variant	Likely benign	rs55761944	GRCh37	Chromosome 16, 14015921: 14015921
46	ERCC4	NM_005236.2(ERCC4): c.241G> T (p.Val81Phe)	single nucleotide variant	Likely benign	rs55761944	GRCh38	Chromosome 16, 13922064: 13922064
47	ERCC4	NM_005236.2(ERCC4): c.1135C> T (p.Pro379Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1799802	GRCh37	Chromosome 16, 14028081: 14028081
48	ERCC4	NM_005236.2(ERCC4): c.1135C> T (p.Pro379Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1799802	GRCh38	Chromosome 16, 13934224: 13934224
49	ERCC4	NM_005236.2(ERCC4): c.1488A> T (p.Gln496His)	single nucleotide variant	Likely benign	rs146601373	GRCh37	Chromosome 16, 14029277: 14029277
50	ERCC4	NM_005236.2(ERCC4): c.1488A> T (p.Gln496His)	single nucleotide variant	Likely benign	rs146601373	GRCh38	Chromosome 16, 13935420: 13935420

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

Search GEO for disease gene expression data for Cockayne Syndrome.

Sources

Pathways for Cockayne Syndrome

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 Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁷ DNA damage_DNA-damage-induced responses ²³ DNA Repair ⁶⁷ G2/M DNA damage checkpoint ⁶⁷ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁷ HDR through MMEJ (alt-NHEJ) ⁶⁷ Homology Directed Repair ⁶⁷ Non-homologous end joining ¹ Non-homologous end-joining ³⁸ Processing of DNA double-strand break ends ⁶⁷	13.06	DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2	RNA Polymerase II Transcription Initiation And Promoter Clearance ⁶⁷ Show member pathways Assembly of RNA Polymerase-II Initiation Complex ⁶⁵ Basal transcription factors ³⁸ Crosstalk Between CARM1 and ESRs ⁶⁵ Eukaryotic Transcription Initiation ¹ HIV Transcription Initiation ⁶⁷ Protein Acetylation and Deacetylation ⁶⁵ RNA Polymerase II HIV Promoter Escape ⁶⁷ RNA Polymerase II Promoter Escape ⁶⁷ RNA Polymerase II Transcription Initiation ⁶⁷ RNA Polymerase II Transcription Pre-Initiation And Promoter Opening ⁶⁷ Transcription Ligand-Dependent Transcription of Retinoid-Target genes ²³ Transcription of mRNA ⁶⁵	12.83	ERCC2 ERCC3 GTF2H2 POLR2L TCEA1 TCEA3
3	Regulation of TP53 Activity ⁶⁷ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁷ Regulation of TP53 Activity through Methylation ⁶⁷ Regulation of TP53 Activity through Phosphorylation ⁶⁷ Transcriptional Regulation by TP53 ⁶⁷	12.77	DDB2 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1
4	Chks in Checkpoint Regulation ⁶⁵ Show member pathways DNA Repair Mechanisms ⁶⁵ Estrogen-mediated S-Phase Entry ⁶⁵ G2-M Phase Transition ⁶⁵ Parkinson's Disease Pathway ⁶⁵ SREBP Proteolysis ⁶⁵	12.6	ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
5	Transcription-Coupled Nucleotide Excision Repair (TC-NER) ⁶⁷ Show member pathways DNA Damage Recognition in GG-NER ⁶⁷ Dual incision in TC-NER ⁶⁷ Formation of Incision Complex in GG-NER ⁶⁷ Formation of TC-NER Pre-Incision Complex ⁶⁷ Gap-filling DNA repair synthesis and ligation in TC-NER ⁶⁷ Global Genome Nucleotide Excision Repair (GG-NER) ⁶⁷ Nucleotide Excision Repair ⁶⁷	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 RNA Polymerase I Transcription Initiation ⁶⁷ RNA Polymerase I Transcription Termination ⁶⁷	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 Dual Incision in GG-NER ⁶⁷ Nucleotide Excision Repair Pathway ⁶⁵	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

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

¹⁰ dbSNP

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²⁰ FMA

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

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⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia