MCID: CRB091
MIFTS: 34

Cerebro-Oculo-Facio-Skeletal Syndrome

Categories: Rare diseases

Aliases & Classifications for Cerebro-Oculo-Facio-Skeletal Syndrome

MalaCards integrated aliases for Cerebro-Oculo-Facio-Skeletal Syndrome:

Name: Cerebro-Oculo-Facio-Skeletal Syndrome 20 53 6
Pena-Shokeir Syndrome Type 2 20
Pena Shokeir Syndrome Type 2 70
Cofs Syndrome 20

Classifications:



External Ids:

UMLS 70 C2931277

Summaries for Cerebro-Oculo-Facio-Skeletal Syndrome

NINDS : 53 Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement. A small number of individuals with COFS have a mutation in the "ERCC6" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosumgenes "XPG" or "XPD." Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene. NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).

MalaCards based summary : Cerebro-Oculo-Facio-Skeletal Syndrome, also known as pena-shokeir syndrome type 2, is related to cockayne syndrome b and cerebrooculofacioskeletal syndrome 1. An important gene associated with Cerebro-Oculo-Facio-Skeletal Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include eye, spinal cord and breast, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

GARD : 20 Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord. Affected individuals have mild to severe intellectual disability, severely reduced muscle tone ( hypotonia ), impaired reflexes, vision impairment, and involuntary eye movements. Children with COFS syndrome have distinctive facial features, including low-set ears, small eyes, small head size ( microcephaly ), and a small jaw ( micrognathia ). They may also have abnormalities of the skull, limbs, heart, and kidneys. Individuals with COFS syndrome are often diagnosed at birth. In many cases, the cause of the disorder is unknown. Some children with this condition have mutations in the ERCC1, ERCC2, ERCC5, or ERCC6 gene. When an individual has the features of COFS syndrome and a mutation in the ERCC6 gene, they are said to have Cockayne syndrome type II. COFS syndrome is inherited in an autosomal recessive manner. Most children with this condition do not live past age 5 years of age. Treatment involves supportive care and is based on an individual's symptoms.

Related Diseases for Cerebro-Oculo-Facio-Skeletal Syndrome

Diseases related to Cerebro-Oculo-Facio-Skeletal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome b 32.1 ERCC6 ERCC1
2 cerebrooculofacioskeletal syndrome 1 32.0 ERCC6 ERCC5 ERCC2 ERCC1
3 autosomal recessive disease 30.1 ERCC6 ERCC3 ERCC2
4 hutchinson-gilford progeria syndrome 29.9 ERCC6 ERCC4 ERCC1
5 microcephaly 29.9 ERCC6 ERCC5 ERCC4 ERCC2 ERCC1
6 fanconi anemia, complementation group a 29.6 ERCC6 ERCC4 ERCC2 ERCC1
7 cockayne syndrome 29.0 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
8 xeroderma pigmentosum, variant type 29.0 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
9 trichothiodystrophy 28.7 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
10 xeroderma pigmentosum, complementation group f 28.5 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
11 xeroderma pigmentosum, complementation group d 28.5 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
12 xeroderma pigmentosum, complementation group g 28.5 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
13 cerebrooculofacioskeletal syndrome 4 11.8
14 cerebrooculofacioskeletal syndrome 2 11.8
15 cerebrooculofacioskeletal syndrome 3 11.8
16 congenital intrauterine infection-like syndrome 11.0
17 cataract 10.7
18 3-methylglutaconic aciduria, type iii 10.5
19 microphthalmia 10.5
20 congenital amyoplasia 10.5
21 sensorineural hearing loss 10.5
22 ichthyosis 10.4
23 muscular dystrophy 10.4
24 renal hypodysplasia/aplasia 1 10.2
25 de sanctis-cacchione syndrome 10.2
26 fanconi anemia, complementation group j 10.2
27 muscular dystrophy, congenital, lmna-related 10.2
28 striatal degeneration, autosomal dominant 2 10.2
29 helix syndrome 10.2
30 deficiency anemia 10.2
31 scoliosis 10.2
32 pontocerebellar hypoplasia 10.2
33 autosomal recessive congenital ichthyosis 10.2
34 blepharophimosis 10.2
35 potter's syndrome 10.2
36 ectropion 10.2
37 thrombocytopenia 10.2
38 disorder of sexual development 10.2
39 intestinal obstruction 10.2
40 congenital contractures 10.2
41 splenomegaly 10.2
42 hypertonia 10.2
43 hypotonia 10.2
44 congenital ectropion 10.2
45 photoparoxysmal response 1 10.0 ERCC6 ERCC1
46 fanconi anemia, complementation group q 10.0 ERCC6 ERCC4
47 warburg micro syndrome 1 9.9
48 yemenite deaf-blind hypopigmentation syndrome 9.9
49 chromosome 1p36 deletion syndrome 9.9
50 warburg micro syndrome 3 9.9

Graphical network of the top 20 diseases related to Cerebro-Oculo-Facio-Skeletal Syndrome:



Diseases related to Cerebro-Oculo-Facio-Skeletal Syndrome

Symptoms & Phenotypes for Cerebro-Oculo-Facio-Skeletal Syndrome

GenomeRNAi Phenotypes related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 ERCC4 ERCC5 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 ERCC1 ERCC4 ERCC5 ERCC6
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 ERCC1 ERCC4 ERCC5 ERCC6 ERCC2 ERCC3

MGI Mouse Phenotypes related to Cerebro-Oculo-Facio-Skeletal Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.85 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 homeostasis/metabolism MP:0005376 9.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 integument MP:0010771 9.65 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
4 liver/biliary system MP:0005370 9.46 ERCC1 ERCC4 ERCC5 ERCC6
5 mortality/aging MP:0010768 9.43 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
6 neoplasm MP:0002006 8.92 ERCC1 ERCC2 ERCC3 ERCC6

Drugs & Therapeutics for Cerebro-Oculo-Facio-Skeletal Syndrome

Search Clinical Trials , NIH Clinical Center for Cerebro-Oculo-Facio-Skeletal Syndrome

Genetic Tests for Cerebro-Oculo-Facio-Skeletal Syndrome

Anatomical Context for Cerebro-Oculo-Facio-Skeletal Syndrome

MalaCards organs/tissues related to Cerebro-Oculo-Facio-Skeletal Syndrome:

40
Eye, Spinal Cord, Breast, Skin

Publications for Cerebro-Oculo-Facio-Skeletal Syndrome

Articles related to Cerebro-Oculo-Facio-Skeletal Syndrome:

(show all 40)
# Title Authors PMID Year
1
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis. 61
33766032 2021
2
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2. 61
33369099 2021
3
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene. 61
33733458 2021
4
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature. 61
32052936 2020
5
Heterogeneity and overlaps in nucleotide excision repair disorders. 61
30919937 2020
6
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome. 61
31124294 2019
7
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]. 61
29141312 2017
8
[Anesthesia for intestinal obstruction in a six years old child with cerebro-oculo-facio-skeletal syndrome]. 61
28526469 2017
9
Cockayne syndrome: a diffusion tensor imaging and volumetric study. 61
27643390 2016
10
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders. 61
27375131 2016
11
The ERCC1 and ERCC4 (XPF) genes and gene products. 61
26074087 2015
12
The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex. 61
26085086 2015
13
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 61
25792360 2015
14
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS. 61
25716912 2015
15
Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes. 61
23800062 2013
16
Cerebro-oculo-facio-skeletal syndrome. 61
22980622 2012
17
Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. 61
21612988 2011
18
Cerebro-oculo-facio-skeletal syndrome. 61
20687508 2010
19
Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association. 61
19250421 2009
20
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. 61
18628313 2008
21
A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis. 61
17136552 2007
22
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 61
17273966 2007
23
Cerebro-oculo-facio-skeletal syndrome complicated by congenital ichthyosis. 61
16317307 2006
24
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. 61
15216542 2004
25
Muscle involvement in the cerebro-oculo-facio-skeletal syndrome. 61
14984906 2004
26
Cerebro-oculo-facio-skeletal syndrome in a neonate. 61
12196689 2002
27
Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings. 61
12405446 2002
28
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 61
11443545 2001
29
Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration. 61
11300264 2001
30
Restrictive dermopathy: case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes. 61
11321244 2001
31
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. 61
10739753 2000
32
A variant of the cerebro-oculo-facio-skeletal syndrome with congenital ectropion and a case of lamellar ichthyosis in the same family. 61
8026108 1994
33
Cerebro-oculo-facio-skeletal syndrome: further delineation. 61
1951466 1991
34
[Diagnostic criteria of the cerebro-oculo-facio-skeletal syndrome or Pena-Shokeir II syndrome]. 61
3205659 1988
35
Cerebro-oculo-facio-skeletal syndrome. 61
3551738 1987
36
The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case. 61
6705255 1984
37
The cerebro-oculo-facio-skeletal syndrome. 61
7355980 1980
38
[The cerebro-oculo-facio-skeletal syndrome]. 61
496530 1979
39
The cerebro-oculo-facio-skeletal syndrome. 61
97035 1978
40
The cerebro-oculo-facio-skeletal syndrome. 61
4212394 1974

Variations for Cerebro-Oculo-Facio-Skeletal Syndrome

ClinVar genetic disease variations for Cerebro-Oculo-Facio-Skeletal Syndrome:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC6 NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser) SNV Uncertain significance 300035 rs759125039 GRCh37: 10:50666952-50666952
GRCh38: 10:49458906-49458906
2 ERCC6 NM_000124.4(ERCC6):c.2697G>A (p.Thr899=) SNV Uncertain significance 300060 rs761802751 GRCh37: 10:50681535-50681535
GRCh38: 10:49473489-49473489
3 ERCC6 NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) Deletion Uncertain significance 300033 rs886047032 GRCh37: 10:50666903-50666905
GRCh38: 10:49458857-49458859
4 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.-15+11G>A SNV Uncertain significance 300096 rs766986601 GRCh37: 10:50746997-50746997
GRCh38: 10:49538951-49538951
5 ERCC6 NM_000124.4(ERCC6):c.*232dup Duplication Uncertain significance 300029 rs74561842 GRCh37: 10:50666628-50666629
GRCh38: 10:49458582-49458583
6 ERCC6 NM_000124.4(ERCC6):c.*1279T>A SNV Uncertain significance 300014 rs189942338 GRCh37: 10:50665582-50665582
GRCh38: 10:49457536-49457536
7 ERCC6 NM_000124.4(ERCC6):c.2481_2483AGA[2] (p.Glu829del) Microsatellite Uncertain significance 300064 rs886047036 GRCh37: 10:50682182-50682184
GRCh38: 10:49474136-49474138
8 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) SNV Likely benign 252466 rs148095899 GRCh37: 10:50740611-50740611
GRCh38: 10:49532565-49532565
9 ERCC6 NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) SNV Likely benign 300041 rs2229761 GRCh37: 10:50669459-50669459
GRCh38: 10:49461413-49461413
10 ERCC6 NM_000124.4(ERCC6):c.*2337A>C SNV Likely benign 300000 rs557944846 GRCh37: 10:50664524-50664524
GRCh38: 10:49456478-49456478
11 ERCC6 NM_000124.4(ERCC6):c.*1981dup Duplication Likely benign 300004 rs557832376 GRCh37: 10:50664879-50664880
GRCh38: 10:49456833-49456834
12 ERCC6 NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) SNV Likely benign 194590 rs145720191 GRCh37: 10:50680422-50680422
GRCh38: 10:49472376-49472376
13 ERCC6 NM_000124.4(ERCC6):c.*2155T>C SNV Likely benign 300002 rs114183603 GRCh37: 10:50664706-50664706
GRCh38: 10:49456660-49456660
14 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) SNV Likely benign 235642 rs4253047 GRCh37: 10:50732139-50732139
GRCh38: 10:49524093-49524093
15 ERCC6 NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) SNV Likely benign 287219 rs55698015 GRCh37: 10:50690806-50690806
GRCh38: 10:49482760-49482760
16 ERCC6 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) SNV Likely benign 190164 rs139007661 GRCh37: 10:50678884-50678884
GRCh38: 10:49470838-49470838
17 ERCC6 NM_000124.4(ERCC6):c.*1314G>A SNV Likely benign 300013 rs542053472 GRCh37: 10:50665547-50665547
GRCh38: 10:49457501-49457501
18 ERCC6 NM_000124.4(ERCC6):c.*1327G>A SNV Likely benign 300012 rs117289374 GRCh37: 10:50665534-50665534
GRCh38: 10:49457488-49457488
19 ERCC6 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) SNV Likely benign 190156 rs61760163 GRCh37: 10:50690906-50690906
GRCh38: 10:49482860-49482860
20 ERCC6 NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) SNV Likely benign 300053 rs35365613 GRCh37: 10:50678820-50678820
GRCh38: 10:49470774-49470774
21 ERCC6 NM_000124.4(ERCC6):c.1821+7C>T SNV Benign 190153 rs4253132 GRCh37: 10:50701156-50701156
GRCh38: 10:49493110-49493110
22 ERCC6 NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) SNV Benign 129020 rs2228529 GRCh37: 10:50667105-50667105
GRCh38: 10:49459059-49459059
23 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.528A>G (p.Arg176=) SNV Benign 196213 rs4253027 GRCh37: 10:50738781-50738781
GRCh38: 10:49530735-49530735
24 ERCC6 NM_000124.4(ERCC6):c.*1830T>C SNV Benign 300009 rs11101137 GRCh37: 10:50665031-50665031
GRCh38: 10:49456985-49456985
25 ERCC6 NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) SNV Benign 129016 rs2228526 GRCh37: 10:50678717-50678717
GRCh38: 10:49470671-49470671
26 ERCC6 NM_000124.4(ERCC6):c.*379C>G SNV Benign 300027 rs4253234 GRCh37: 10:50666482-50666482
GRCh38: 10:49458436-49458436
27 ERCC6 NM_000124.4(ERCC6):c.*53T>C SNV Benign 300031 rs4253231 GRCh37: 10:50666808-50666808
GRCh38: 10:49458762-49458762
28 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.135C>G (p.Leu45=) SNV Benign 129014 rs2228524 GRCh37: 10:50740876-50740876
GRCh38: 10:49532830-49532830
29 ERCC6 NM_000124.4(ERCC6):c.*1964_*1966del Deletion Benign 300005 rs147228327 GRCh37: 10:50664895-50664897
GRCh38: 10:49456849-49456851
30 ERCC6 NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) SNV Benign 129017 rs2228527 GRCh37: 10:50678369-50678369
GRCh38: 10:49470323-49470323
31 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.411G>A (p.Leu137=) SNV Benign 129019 rs4253013 GRCh37: 10:50740600-50740600
GRCh38: 10:49532554-49532554
32 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) SNV Benign 129013 rs2228528 GRCh37: 10:50732280-50732280
GRCh38: 10:49524234-49524234
33 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.-78G>T SNV Benign 300099 rs4253005 GRCh37: 10:50747071-50747071
GRCh38: 10:49539025-49539025
34 ERCC6 NM_000124.4(ERCC6):c.*933G>A SNV Benign 300018 rs3750751 GRCh37: 10:50665928-50665928
GRCh38: 10:49457882-49457882
35 ERCC6 NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) SNV Benign 129015 rs2229760 GRCh37: 10:50681033-50681033
GRCh38: 10:49472987-49472987
36 ERCC6 NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) SNV Benign 129018 rs4253211 GRCh37: 10:50678317-50678317
GRCh38: 10:49470271-49470271
37 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.-87C>A SNV Benign 300101 rs4253004 GRCh37: 10:50747080-50747080
GRCh38: 10:49539034-49539034

Expression for Cerebro-Oculo-Facio-Skeletal Syndrome

Search GEO for disease gene expression data for Cerebro-Oculo-Facio-Skeletal Syndrome.

Pathways for Cerebro-Oculo-Facio-Skeletal Syndrome

Pathways related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
2
Show member pathways
12.47 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
3
Show member pathways
12.24 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
4 12.14 ERCC4 ERCC3 ERCC2 ERCC1
5
Show member pathways
11.63 ERCC6 ERCC3 ERCC2
6 11.43 ERCC4 ERCC1
7
Show member pathways
11.16 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
8
Show member pathways
10.92 ERCC4 ERCC1
9 10.82 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1

GO Terms for Cerebro-Oculo-Facio-Skeletal Syndrome

Cellular components related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.91 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
2 nucleoplasm GO:0005654 9.85 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
3 transcription factor TFIID complex GO:0005669 9.4 ERCC3 ERCC2
4 transcription factor TFIIH holo complex GO:0005675 9.32 ERCC3 ERCC2
5 transcription factor TFIIH core complex GO:0000439 9.26 ERCC3 ERCC2
6 ERCC4-ERCC1 complex GO:0070522 9.16 ERCC4 ERCC1
7 nucleotide-excision repair factor 1 complex GO:0000110 8.96 ERCC4 ERCC1
8 nucleotide-excision repair complex GO:0000109 8.8 ERCC5 ERCC4 ERCC1

Biological processes related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.97 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
2 DNA repair GO:0006281 9.93 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
3 response to UV GO:0009411 9.83 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
4 response to oxidative stress GO:0006979 9.81 ERCC6 ERCC3 ERCC2 ERCC1
5 nucleotide-excision repair GO:0006289 9.8 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
6 transcription by RNA polymerase II GO:0006366 9.79 ERCC6 ERCC3 ERCC2
7 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.78 ERCC5 ERCC4 ERCC1
8 global genome nucleotide-excision repair GO:0070911 9.78 ERCC4 ERCC3 ERCC2 ERCC1
9 DNA duplex unwinding GO:0032508 9.77 ERCC6 ERCC3 ERCC2
10 nucleotide-excision repair, DNA incision GO:0033683 9.77 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
11 multicellular organism growth GO:0035264 9.76 ERCC6 ERCC2 ERCC1
12 embryonic organ development GO:0048568 9.72 ERCC3 ERCC2 ERCC1
13 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.72 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
14 transcription elongation from RNA polymerase I promoter GO:0006362 9.71 ERCC6 ERCC3 ERCC2
15 nucleotide-excision repair, preincision complex assembly GO:0006294 9.7 ERCC5 ERCC3 ERCC2
16 regulation of mitotic cell cycle phase transition GO:1901990 9.66 ERCC3 ERCC2
17 transcription elongation from RNA polymerase II promoter GO:0006368 9.65 ERCC3 ERCC2
18 double-strand break repair via nonhomologous end joining GO:0006303 9.65 ERCC4 ERCC1
19 interstrand cross-link repair GO:0036297 9.65 ERCC4 ERCC1
20 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.65 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
21 transcription initiation from RNA polymerase I promoter GO:0006361 9.64 ERCC3 ERCC2
22 7-methylguanosine mRNA capping GO:0006370 9.64 ERCC3 ERCC2
23 termination of RNA polymerase I transcription GO:0006363 9.63 ERCC3 ERCC2
24 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.63 ERCC3 ERCC2
25 response to X-ray GO:0010165 9.62 ERCC6 ERCC1
26 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.61 ERCC6 ERCC1
27 hair cell differentiation GO:0035315 9.6 ERCC3 ERCC2
28 negative regulation of telomere maintenance GO:0032205 9.58 ERCC4 ERCC1
29 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.57 ERCC4 ERCC1
30 telomeric DNA-containing double minutes formation GO:0061819 9.56 ERCC4 ERCC1
31 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.55 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
32 transcription-coupled nucleotide-excision repair GO:0006283 9.43 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
33 UV protection GO:0009650 9.02 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1

Molecular functions related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
2 hydrolase activity GO:0016787 9.73 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
3 helicase activity GO:0004386 9.72 ERCC6 ERCC3 ERCC2
4 nuclease activity GO:0004518 9.71 ERCC5 ERCC4 ERCC1
5 single-stranded DNA binding GO:0003697 9.65 ERCC5 ERCC4 ERCC1
6 endonuclease activity GO:0004519 9.63 ERCC5 ERCC4 ERCC1
7 DNA helicase activity GO:0003678 9.58 ERCC6 ERCC3 ERCC2
8 promoter-specific chromatin binding GO:1990841 9.54 ERCC4 ERCC3 ERCC1
9 endodeoxyribonuclease activity GO:0004520 9.52 ERCC5 ERCC4
10 TFIID-class transcription factor complex binding GO:0001094 9.51 ERCC4 ERCC1
11 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.49 ERCC4 ERCC1
12 damaged DNA binding GO:0003684 9.46 ERCC4 ERCC3 ERCC2 ERCC1
13 protein C-terminus binding GO:0008022 9.35 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
14 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.32 ERCC4 ERCC1
15 protein N-terminus binding GO:0047485 9.02 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2

Sources for Cerebro-Oculo-Facio-Skeletal Syndrome

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