MCID: CRB091
MIFTS: 36

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 54 55 30 6
Cerebrooculofacioskeletal Syndrome 6
Pena-Shokeir Syndrome Type 2 54
Pena Shokeir Syndrome Type 2 74
Pena Shokeir Ii Syndrome 55
Cofs Syndrome 54

Classifications:



External Ids:

UMLS 74 C2931277

Summaries for Cerebro-Oculo-Facio-Skeletal Syndrome

NINDS : 55 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 cerebrooculofacioskeletal syndrome, is related to cerebrooculofacioskeletal syndrome 1 and cockayne syndrome type ii. 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 brain, eye and spinal cord, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

NIH Rare Diseases : 54 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 all 30)
# Related Disease Score Top Affiliating Genes
1 cerebrooculofacioskeletal syndrome 1 33.1 ERCC2 ERCC5 ERCC6
2 cockayne syndrome type ii 32.6 ERCC1 ERCC6
3 cockayne syndrome 28.4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 cerebrooculofacioskeletal syndrome 2 12.3
5 cerebrooculofacioskeletal syndrome 4 12.3
6 cerebrooculofacioskeletal syndrome 3 12.3
7 congenital intrauterine infection-like syndrome 11.1
8 ichthyosis 10.6
9 ichthyosis lamellar 1 10.4
10 autosomal recessive congenital ichthyosis 10.4
11 ectropion 10.4
12 premature ovarian failure 11 10.1 ERCC6 PGBD3
13 cockayne syndrome type i 10.1 ERCC4 ERCC6
14 cockayne syndrome b 10.0 ERCC4 ERCC6
15 xfe progeroid syndrome 10.0 ERCC1 ERCC4
16 fanconi anemia, complementation group q 9.9 ERCC1 ERCC4
17 diffuse gastric cancer 9.9 ERCC1 ERCC2
18 fanconi anemia, complementation group r 9.9 ERCC1 ERCC4
19 acoustic neuroma 9.8 ERCC4 ERCC5
20 fanconi anemia, complementation group t 9.8 ERCC1 ERCC4
21 autosomal genetic disease 9.7 ERCC1 ERCC2
22 fanconi anemia, complementation group a 9.7 ERCC1 ERCC2 ERCC4
23 xeroderma pigmentosum, complementation group d 9.6 ERCC1 ERCC2 ERCC3
24 cockayne syndrome a 9.5 ERCC2 ERCC4 ERCC5 ERCC6
25 xeroderma pigmentosum, complementation group f 9.4 ERCC1 ERCC2 ERCC4 ERCC5
26 xeroderma pigmentosum, complementation group b 9.2 ERCC1 ERCC2 ERCC3 ERCC5
27 xeroderma pigmentosum, complementation group g 9.2 ERCC1 ERCC3 ERCC4 ERCC5
28 uv-sensitive syndrome 9.1 ERCC2 ERCC3 ERCC5 ERCC6 PGBD3
29 trichothiodystrophy 1, photosensitive 9.1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
30 xeroderma pigmentosum, variant type 8.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 ERCC1 ERCC4 ERCC5 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 ERCC1 ERCC4 ERCC5 ERCC6
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.43 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 integument MP:0010771 9.55 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
3 liver/biliary system MP:0005370 9.26 ERCC1 ERCC4 ERCC5 ERCC6
4 neoplasm MP:0002006 8.92 ERCC1 ERCC2 ERCC3 ERCC6

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acute Effects of Coffee Beverage on Postprandial Inflammation and Oxidative Stress - A Pilot Study Active, not recruiting NCT02174640 Not Applicable

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

Genetic Tests for Cerebro-Oculo-Facio-Skeletal Syndrome

Genetic tests related to Cerebro-Oculo-Facio-Skeletal Syndrome:

# Genetic test Affiliating Genes
1 Cerebro-Oculo-Facio-Skeletal Syndrome 30 ERCC6

Anatomical Context for Cerebro-Oculo-Facio-Skeletal Syndrome

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

42
Brain, Eye, Spinal Cord, Kidney, Heart

Publications for Cerebro-Oculo-Facio-Skeletal Syndrome

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

(show all 21)
# Title Authors Year
1
The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex. ( 26085086 )
2015
2
Cerebro-oculo-facio-skeletal syndrome. ( 22980622 )
2012
3
Cerebro-oculo-facio-skeletal syndrome. ( 20687508 )
2010
4
CafAc au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association. ( 19250421 )
2009
5
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. ( 18628313 )
2008
6
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. ( 17273966 )
2007
7
Cerebro-oculo-facio-skeletal syndrome complicated by congenital ichthyosis. ( 16317307 )
2006
8
Muscle involvement in the cerebro-oculo-facio-skeletal syndrome. ( 14984906 )
2004
9
Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings. ( 12405446 )
2002
10
Cerebro-oculo-facio-skeletal syndrome in a neonate. ( 12196689 )
2002
11
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision- repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. ( 11443545 )
2001
12
Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration. ( 11300264 )
2001
13
Manitoba aboriginal kindred with original cerebro-oculo-facio- skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. ( 10739753 )
2000
14
A variant of the cerebro-oculo-facio-skeletal syndrome with congenital ectropion and a case of lamellar ichthyosis in the same family. ( 8026108 )
1994
15
Cerebro-oculo-facio-skeletal syndrome: further delineation. ( 1951466 )
1991
16
Cerebro-oculo-facio-skeletal syndrome. ( 3551738 )
1987
17
The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case. ( 6705255 )
1984
18
The cerebro-oculo-facio-skeletal syndrome. ( 7355980 )
1980
19
[The cerebro-oculo-facio-skeletal syndrome]. ( 496530 )
1979
20
The cerebro-oculo-facio-skeletal syndrome. ( 97035 )
1978
21
The cerebro-oculo-facio-skeletal syndrome. ( 4212394 )
1974

Variations for Cerebro-Oculo-Facio-Skeletal Syndrome

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

6 (show top 50) (show all 427)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh38 Chromosome 10, 49459111: 49459111
2 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh37 Chromosome 10, 50667157: 50667157
3 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh37 Chromosome 10, 50669428: 50669429
4 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh38 Chromosome 10, 49461382: 49461383
5 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh38 Chromosome 10, 49470424: 49470424
6 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh37 Chromosome 10, 50678470: 50678470
7 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh37 Chromosome 10, 50678594: 50678594
8 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh38 Chromosome 10, 49470548: 49470548
9 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh37 Chromosome 10, 50678829: 50678829
10 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh38 Chromosome 10, 49470783: 49470783
11 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
12 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
13 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518
14 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh38 Chromosome 10, 49472472: 49472472
15 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh38 Chromosome 10, 49473613: 49473613
16 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh37 Chromosome 10, 50681659: 50681659
17 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh37 Chromosome 10, 50690735: 50690735
18 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh38 Chromosome 10, 49482689: 49482689
19 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh38 Chromosome 10, 49482760: 49482760
20 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh37 Chromosome 10, 50690806: 50690806
21 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
22 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
23 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh37 Chromosome 10, 50691430: 50691430
24 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh38 Chromosome 10, 49483384: 49483384
25 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh38 Chromosome 10, 49483503: 49483503
26 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh37 Chromosome 10, 50691549: 50691549
27 ERCC6 NM_000124.3(ERCC6): c.1821+7C> T single nucleotide variant Benign rs4253132 GRCh37 Chromosome 10, 50701156: 50701156
28 ERCC6 NM_000124.3(ERCC6): c.1821+7C> T single nucleotide variant Benign rs4253132 GRCh38 Chromosome 10, 49493110: 49493110
29 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
30 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
31 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh37 Chromosome 10, 50713929: 50713929
32 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh38 Chromosome 10, 49505883: 49505883
33 ERCC6 NM_000124.3(ERCC6): c.670C> T (p.Leu224Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150935953 GRCh37 Chromosome 10, 50732806: 50732806
34 ERCC6 NM_000124.3(ERCC6): c.670C> T (p.Leu224Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150935953 GRCh38 Chromosome 10, 49524760: 49524760
35 ERCC6 NM_000124.3(ERCC6): c.150G> A (p.Val50=) single nucleotide variant Likely benign rs80133923 GRCh37 Chromosome 10, 50740861: 50740861
36 ERCC6 NM_000124.3(ERCC6): c.150G> A (p.Val50=) single nucleotide variant Likely benign rs80133923 GRCh38 Chromosome 10, 49532815: 49532815
37 ERCC6 NM_000124.3(ERCC6): c.2048G> A (p.Arg683Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148845653 GRCh37 Chromosome 10, 50690854: 50690854
38 ERCC6 NM_000124.3(ERCC6): c.2048G> A (p.Arg683Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148845653 GRCh38 Chromosome 10, 49482808: 49482808
39 ERCC6 NM_000124.3(ERCC6): c.2403C> T (p.Ala801=) single nucleotide variant Likely benign rs114896216 GRCh37 Chromosome 10, 50682268: 50682268
40 ERCC6 NM_000124.3(ERCC6): c.2403C> T (p.Ala801=) single nucleotide variant Likely benign rs114896216 GRCh38 Chromosome 10, 49474222: 49474222
41 ERCC6 NM_000124.3(ERCC6): c.2924G> A (p.Arg975Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145720191 GRCh37 Chromosome 10, 50680422: 50680422
42 ERCC6 NM_000124.3(ERCC6): c.2924G> A (p.Arg975Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145720191 GRCh38 Chromosome 10, 49472376: 49472376
43 ERCC6 NM_000124.3(ERCC6): c.3061A> G (p.Ile1021Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41562713 GRCh37 Chromosome 10, 50679030: 50679030
44 ERCC6 NM_000124.3(ERCC6): c.3061A> G (p.Ile1021Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41562713 GRCh38 Chromosome 10, 49470984: 49470984
45 ERCC6 NM_000124.3(ERCC6): c.3010C> T (p.Leu1004=) single nucleotide variant Benign rs2274097 GRCh37 Chromosome 10, 50679081: 50679081
46 ERCC6 NM_000124.3(ERCC6): c.3010C> T (p.Leu1004=) single nucleotide variant Benign rs2274097 GRCh38 Chromosome 10, 49471035: 49471035
47 ERCC6 NM_000124.3(ERCC6): c.528A> G (p.Arg176=) single nucleotide variant Benign rs4253027 GRCh37 Chromosome 10, 50738781: 50738781
48 ERCC6 NM_000124.3(ERCC6): c.528A> G (p.Arg176=) single nucleotide variant Benign rs4253027 GRCh38 Chromosome 10, 49530735: 49530735
49 ERCC6 NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368728467 GRCh38 Chromosome 10, 49474074: 49474074
50 ERCC6 NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368728467 GRCh37 Chromosome 10, 50682120: 50682120

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 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2
Show member pathways
12.47 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3
Show member pathways
12.24 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 12.14 ERCC1 ERCC2 ERCC3 ERCC4
5
Show member pathways
11.63 ERCC2 ERCC3 ERCC6
6
Show member pathways
11.5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
7 11.43 ERCC1 ERCC4
8
Show member pathways
10.92 ERCC1 ERCC4
9 10.48 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6

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 nucleoplasm GO:0005654 9.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 transcription elongation factor complex GO:0008023 9.43 ERCC6 PGBD3
3 transcription factor TFIIH holo complex GO:0005675 9.4 ERCC2 ERCC3
4 transcription factor TFIIH core complex GO:0000439 9.37 ERCC2 ERCC3
5 ERCC4-ERCC1 complex GO:0070522 9.32 ERCC1 ERCC4
6 nucleotide-excision repair factor 1 complex GO:0000110 9.16 ERCC1 ERCC4
7 nucleotide-excision repair complex GO:0000109 9.13 ERCC1 ERCC4 ERCC5
8 transcription factor TFIID complex GO:0005669 8.92 ERCC1 ERCC2 ERCC3 ERCC4
9 nucleus GO:0005634 10 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.96 ERCC2 ERCC3 ERCC6 PGBD3
2 DNA repair GO:0006281 9.91 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 response to oxidative stress GO:0006979 9.89 ERCC1 ERCC2 ERCC3 ERCC6 PGBD3
4 multicellular organism growth GO:0035264 9.84 ERCC1 ERCC2 ERCC6 PGBD3
5 DNA duplex unwinding GO:0032508 9.83 ERCC2 ERCC3 ERCC6 PGBD3
6 nucleotide-excision repair GO:0006289 9.83 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
7 nucleotide-excision repair, DNA incision GO:0033683 9.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
8 global genome nucleotide-excision repair GO:0070911 9.78 ERCC1 ERCC2 ERCC3 ERCC4
9 embryonic organ development GO:0048568 9.74 ERCC1 ERCC2 ERCC3
10 nucleotide-excision repair, preincision complex assembly GO:0006294 9.73 ERCC2 ERCC3 ERCC5
11 response to X-ray GO:0010165 9.72 ERCC1 ERCC6 PGBD3
12 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.72 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
13 transcription elongation from RNA polymerase II promoter GO:0006368 9.7 ERCC2 ERCC3
14 double-strand break repair via nonhomologous end joining GO:0006303 9.69 ERCC1 ERCC4
15 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.69 ERCC6 PGBD3
16 interstrand cross-link repair GO:0036297 9.69 ERCC1 ERCC4
17 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.69 ERCC1 ERCC4 ERCC5
18 activation of JUN kinase activity GO:0007257 9.68 ERCC6 PGBD3
19 base-excision repair GO:0006284 9.68 ERCC6 PGBD3
20 positive regulation of protein tyrosine kinase activity GO:0061098 9.68 ERCC6 PGBD3
21 photoreceptor cell maintenance GO:0045494 9.68 ERCC6 PGBD3
22 7-methylguanosine mRNA capping GO:0006370 9.67 ERCC2 ERCC3
23 positive regulation of gene expression, epigenetic GO:0045815 9.67 ERCC6 PGBD3
24 transcription initiation from RNA polymerase I promoter GO:0006361 9.67 ERCC2 ERCC3
25 response to gamma radiation GO:0010332 9.66 ERCC6 PGBD3
26 termination of RNA polymerase I transcription GO:0006363 9.66 ERCC2 ERCC3
27 positive regulation of DNA-templated transcription, elongation GO:0032786 9.65 ERCC6 PGBD3
28 activation of JNKK activity GO:0007256 9.65 ERCC6 PGBD3
29 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.65 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
30 regulation of DNA-templated transcription, elongation GO:0032784 9.64 ERCC6 PGBD3
31 response to UV-B GO:0010224 9.64 ERCC6 PGBD3
32 regulation of mitotic cell cycle phase transition GO:1901990 9.63 ERCC2 ERCC3
33 pyrimidine dimer repair GO:0006290 9.63 ERCC6 PGBD3
34 hair cell differentiation GO:0035315 9.62 ERCC2 ERCC3
35 response to superoxide GO:0000303 9.62 ERCC6 PGBD3
36 negative regulation of telomere maintenance GO:0032205 9.61 ERCC1 ERCC4
37 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.6 ERCC1 ERCC4
38 telomeric DNA-containing double minutes formation GO:0061819 9.59 ERCC1 ERCC4
39 transcription elongation from RNA polymerase I promoter GO:0006362 9.58 ERCC6 PGBD3
40 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.58 ERCC2 ERCC3
41 UV protection GO:0009650 9.55 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
42 response to UV GO:0009411 9.43 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 PGBD3
43 regulation of mitotic recombination GO:0000019 9.3 ERCC2
44 transcription-coupled nucleotide-excision repair GO:0006283 9.17 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
45 cellular response to DNA damage stimulus GO:0006974 10 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.95 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 hydrolase activity GO:0016787 9.87 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 protein-containing complex binding GO:0044877 9.75 ERCC5 ERCC6 PGBD3
4 nuclease activity GO:0004518 9.69 ERCC1 ERCC4 ERCC5
5 helicase activity GO:0004386 9.67 ERCC2 ERCC3 ERCC6 PGBD3
6 single-stranded DNA binding GO:0003697 9.65 ERCC1 ERCC4 ERCC5
7 endonuclease activity GO:0004519 9.63 ERCC1 ERCC4 ERCC5
8 ATP-dependent DNA helicase activity GO:0004003 9.57 ERCC2 ERCC3
9 endodeoxyribonuclease activity GO:0004520 9.56 ERCC4 ERCC5
10 damaged DNA binding GO:0003684 9.56 ERCC1 ERCC2 ERCC3 ERCC4
11 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.55 ERCC2 ERCC3
12 protein tyrosine kinase activator activity GO:0030296 9.54 ERCC6 PGBD3
13 TFIID-class transcription factor complex binding GO:0001094 9.52 ERCC1 ERCC4
14 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.49 ERCC1 ERCC4
15 DNA-dependent ATPase activity GO:0008094 9.46 ERCC2 ERCC3 ERCC6 PGBD3
16 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.43 ERCC1 ERCC4
17 protein C-terminus binding GO:0008022 9.43 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 PGBD3
18 protein N-terminus binding GO:0047485 9.1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 PGBD3

Sources for Cerebro-Oculo-Facio-Skeletal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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