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 53 54 29 6
Cerebrooculofacioskeletal Syndrome 6
Pena-Shokeir Syndrome Type 2 53
Pena Shokeir Syndrome Type 2 73
Pena Shokeir Ii Syndrome 54
Cofs Syndrome 53

Classifications:



External Ids:

UMLS 73 C2931277

Summaries for Cerebro-Oculo-Facio-Skeletal Syndrome

NINDS : 54 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 : 53 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 32.5 ERCC1 ERCC6
3 cockayne syndrome 29.4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 cerebrooculofacioskeletal syndrome 2 12.2
5 cerebrooculofacioskeletal syndrome 4 12.2
6 cerebrooculofacioskeletal syndrome 3 12.2
7 congenital intrauterine infection-like syndrome 11.0
8 ichthyosis 10.6
9 ichthyosis lamellar 1 10.4
10 autosomal recessive congenital ichthyosis 10.4
11 ectropion 10.4
12 cockayne syndrome type i 10.0 ERCC4 ERCC6
13 infantile epileptic encephalopathy 10.0
14 xfe progeroid syndrome 10.0 ERCC1 ERCC4
15 fanconi anemia, complementation group q 10.0 ERCC1 ERCC4
16 fanconi anemia, complementation group r 10.0 ERCC1 ERCC4
17 diffuse gastric cancer 10.0 ERCC1 ERCC2
18 acoustic neuroma 9.9 ERCC4 ERCC5
19 fanconi anemia, complementation group t 9.9 ERCC1 ERCC4
20 autosomal genetic disease 9.9 ERCC1 ERCC2
21 fanconi anemia, complementation group a 9.8 ERCC1 ERCC2 ERCC4
22 xeroderma pigmentosum, complementation group d 9.7 ERCC1 ERCC2 ERCC3
23 autosomal recessive disease 9.7 ERCC2 ERCC3
24 cockayne syndrome a 9.7 ERCC2 ERCC4 ERCC5 ERCC6
25 xeroderma pigmentosum, complementation group f 9.6 ERCC1 ERCC2 ERCC4 ERCC5
26 uv-sensitive syndrome 9.5 ERCC2 ERCC3 ERCC5 ERCC6
27 xeroderma pigmentosum, complementation group b 9.5 ERCC1 ERCC2 ERCC3 ERCC5
28 xeroderma pigmentosum, complementation group g 9.5 ERCC1 ERCC3 ERCC4 ERCC5
29 trichothiodystrophy 1, photosensitive 9.4 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
30 xeroderma pigmentosum, variant type 9.2 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:

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 cellular MP:0005384 9.77 ERCC1 ERCC2 ERCC3 ERCC4 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

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 29 ERCC6

Anatomical Context for Cerebro-Oculo-Facio-Skeletal Syndrome

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

41
Brain, Eye, Spinal Cord, Kidney, Heart, Breast

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 425)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh37 Chromosome 10, 50686483: 50686483
2 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh38 Chromosome 10, 49478437: 49478437
3 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh37 Chromosome 10, 50732119: 50732119
4 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh38 Chromosome 10, 49524073: 49524073
5 ERCC6 ERCC6, 2-BP DEL, 3794AA deletion Pathogenic
6 ERCC6 NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs4253208 GRCh37 Chromosome 10, 50678722: 50678722
7 ERCC6 NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs4253208 GRCh38 Chromosome 10, 49470676: 49470676
8 ERCC6 NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh37 Chromosome 10, 50690855: 50690855
9 ERCC6 NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh38 Chromosome 10, 49482809: 49482809
10 ERCC6 NM_000124.3(ERCC6): c.2960T> C (p.Leu987Pro) single nucleotide variant Pathogenic rs121917905 GRCh37 Chromosome 10, 50679131: 50679131
11 ERCC6 NM_000124.3(ERCC6): c.2960T> C (p.Leu987Pro) single nucleotide variant Pathogenic rs121917905 GRCh38 Chromosome 10, 49471085: 49471085
12 ERCC6 ERCC6, 2254A-G single nucleotide variant Pathogenic
13 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh37 Chromosome 19, 45856060: 45856060
14 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh38 Chromosome 19, 45352802: 45352802
15 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh37 Chromosome 10, 50669519: 50669519
16 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh38 Chromosome 10, 49461473: 49461473
17 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh37 Chromosome 10, 50732195: 50732195
18 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh38 Chromosome 10, 49524149: 49524149
19 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 NCBI36 Chromosome 10, 50402201: 50402201
20 ERCC6 NM_000124.3(ERCC6): c.1196G> A (p.Gly399Asp) single nucleotide variant Benign rs2228528 GRCh37 Chromosome 10, 50732280: 50732280
21 ERCC6 NM_000124.3(ERCC6): c.1196G> A (p.Gly399Asp) single nucleotide variant Benign rs2228528 GRCh38 Chromosome 10, 49524234: 49524234
22 ERCC6 NM_000124.3(ERCC6): c.135C> G (p.Leu45=) single nucleotide variant Benign rs2228524 GRCh37 Chromosome 10, 50740876: 50740876
23 ERCC6 NM_000124.3(ERCC6): c.135C> G (p.Leu45=) single nucleotide variant Benign rs2228524 GRCh38 Chromosome 10, 49532830: 49532830
24 ERCC6 NM_000124.3(ERCC6): c.2751C> T (p.Gly917=) single nucleotide variant Benign rs2229760 GRCh37 Chromosome 10, 50681033: 50681033
25 ERCC6 NM_000124.3(ERCC6): c.2751C> T (p.Gly917=) single nucleotide variant Benign rs2229760 GRCh38 Chromosome 10, 49472987: 49472987
26 ERCC6 NM_000124.3(ERCC6): c.3289A> G (p.Met1097Val) single nucleotide variant Benign rs2228526 GRCh37 Chromosome 10, 50678717: 50678717
27 ERCC6 NM_000124.3(ERCC6): c.3289A> G (p.Met1097Val) single nucleotide variant Benign rs2228526 GRCh38 Chromosome 10, 49470671: 49470671
28 ERCC6 NM_000124.3(ERCC6): c.3637A> G (p.Arg1213Gly) single nucleotide variant Benign rs2228527 GRCh37 Chromosome 10, 50678369: 50678369
29 ERCC6 NM_000124.3(ERCC6): c.3637A> G (p.Arg1213Gly) single nucleotide variant Benign rs2228527 GRCh38 Chromosome 10, 49470323: 49470323
30 ERCC6 NM_000124.3(ERCC6): c.3689G> C (p.Arg1230Pro) single nucleotide variant Benign rs4253211 GRCh37 Chromosome 10, 50678317: 50678317
31 ERCC6 NM_000124.3(ERCC6): c.3689G> C (p.Arg1230Pro) single nucleotide variant Benign rs4253211 GRCh38 Chromosome 10, 49470271: 49470271
32 ERCC6 NM_000124.3(ERCC6): c.411G> A (p.Leu137=) single nucleotide variant Benign rs4253013 GRCh37 Chromosome 10, 50740600: 50740600
33 ERCC6 NM_000124.3(ERCC6): c.411G> A (p.Leu137=) single nucleotide variant Benign rs4253013 GRCh38 Chromosome 10, 49532554: 49532554
34 ERCC6 NM_000124.3(ERCC6): c.4238A> G (p.Gln1413Arg) single nucleotide variant Benign rs2228529 GRCh37 Chromosome 10, 50667105: 50667105
35 ERCC6 NM_000124.3(ERCC6): c.4238A> G (p.Gln1413Arg) single nucleotide variant Benign rs2228529 GRCh38 Chromosome 10, 49459059: 49459059
36 ERCC2 NM_000400.3(ERCC2): c.1887G> C (p.Gln629His) single nucleotide variant Uncertain significance rs200665173 GRCh37 Chromosome 19, 45856019: 45856019
37 ERCC2 NM_000400.3(ERCC2): c.1887G> C (p.Gln629His) single nucleotide variant Uncertain significance rs200665173 GRCh38 Chromosome 19, 45352761: 45352761
38 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh38 Chromosome 10, 49459111: 49459111
39 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh37 Chromosome 10, 50667157: 50667157
40 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh37 Chromosome 10, 50669428: 50669429
41 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh38 Chromosome 10, 49461382: 49461383
42 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh38 Chromosome 10, 49470424: 49470424
43 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh37 Chromosome 10, 50678470: 50678470
44 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh37 Chromosome 10, 50678594: 50678594
45 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh38 Chromosome 10, 49470548: 49470548
46 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh37 Chromosome 10, 50678829: 50678829
47 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh38 Chromosome 10, 49470783: 49470783
48 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
49 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
50 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518

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 11.43 ERCC1 ERCC4
7
Show member pathways
11.16 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
8
Show member pathways
10.92 ERCC1 ERCC4
9 10.82 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 nucleus GO:0005634 9.91 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 nucleoplasm GO:0005654 9.88 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 nuclear chromosome, telomeric region GO:0000784 9.46 ERCC1 ERCC4
4 transcription factor TFIIH holo complex GO:0005675 9.37 ERCC2 ERCC3
5 transcription factor TFIIH core complex GO:0000439 9.32 ERCC2 ERCC3
6 ERCC4-ERCC1 complex GO:0070522 9.26 ERCC1 ERCC4
7 nucleotide-excision repair factor 1 complex GO:0000110 9.16 ERCC1 ERCC4
8 nucleotide-excision repair complex GO:0000109 9.13 ERCC1 ERCC4 ERCC5
9 transcription factor TFIID complex GO:0005669 8.92 ERCC1 ERCC2 ERCC3 ERCC4

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.95 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 DNA repair GO:0006281 9.91 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 transcription by RNA polymerase II GO:0006366 9.83 ERCC2 ERCC3 ERCC6
4 response to oxidative stress GO:0006979 9.81 ERCC1 ERCC2 ERCC3 ERCC6
5 response to UV GO:0009411 9.8 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
6 multicellular organism growth GO:0035264 9.77 ERCC1 ERCC2 ERCC6
7 nucleotide-excision repair GO:0006289 9.77 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
8 global genome nucleotide-excision repair GO:0070911 9.76 ERCC1 ERCC2 ERCC3 ERCC4
9 DNA duplex unwinding GO:0032508 9.75 ERCC2 ERCC3 ERCC6
10 nucleotide-excision repair, DNA incision GO:0033683 9.72 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
11 embryonic organ development GO:0048568 9.71 ERCC1 ERCC2 ERCC3
12 nucleotide-excision repair, preincision complex assembly GO:0006294 9.7 ERCC2 ERCC3 ERCC5
13 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.67 ERCC1 ERCC4 ERCC5
14 transcription elongation from RNA polymerase II promoter GO:0006368 9.65 ERCC2 ERCC3
15 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.65 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
16 double-strand break repair via nonhomologous end joining GO:0006303 9.64 ERCC1 ERCC4
17 interstrand cross-link repair GO:0036297 9.64 ERCC1 ERCC4
18 7-methylguanosine mRNA capping GO:0006370 9.63 ERCC2 ERCC3
19 transcription initiation from RNA polymerase I promoter GO:0006361 9.63 ERCC2 ERCC3
20 termination of RNA polymerase I transcription GO:0006363 9.62 ERCC2 ERCC3
21 response to X-ray GO:0010165 9.62 ERCC1 ERCC6
22 regulation of mitotic cell cycle phase transition GO:1901990 9.61 ERCC2 ERCC3
23 hair cell differentiation GO:0035315 9.61 ERCC2 ERCC3
24 negative regulation of telomere maintenance GO:0032205 9.59 ERCC1 ERCC4
25 regulation of mitotic recombination GO:0000019 9.58 ERCC2 ERCC3
26 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.57 ERCC1 ERCC4
27 telomeric DNA-containing double minutes formation GO:0061819 9.56 ERCC1 ERCC4
28 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.55 ERCC2 ERCC3
29 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.55 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
30 transcription-coupled nucleotide-excision repair GO:0006283 9.43 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
31 UV protection GO:0009650 9.02 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.88 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 hydrolase activity GO:0016787 9.73 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 helicase activity GO:0004386 9.7 ERCC2 ERCC3 ERCC6
4 nuclease activity GO:0004518 9.67 ERCC1 ERCC4 ERCC5
5 single-stranded DNA binding GO:0003697 9.63 ERCC1 ERCC4 ERCC5
6 endonuclease activity GO:0004519 9.61 ERCC1 ERCC4 ERCC5
7 ATP-dependent DNA helicase activity GO:0004003 9.56 ERCC2 ERCC3
8 endodeoxyribonuclease activity GO:0004520 9.55 ERCC4 ERCC5
9 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.54 ERCC2 ERCC3
10 TFIID-class transcription factor complex binding GO:0001094 9.51 ERCC1 ERCC4
11 DNA-dependent ATPase activity GO:0008094 9.5 ERCC2 ERCC3 ERCC6
12 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.48 ERCC1 ERCC4
13 damaged DNA binding GO:0003684 9.46 ERCC1 ERCC2 ERCC3 ERCC4
14 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.37 ERCC1 ERCC4
15 protein C-terminus binding GO:0008022 9.35 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6
16 protein N-terminus binding GO:0047485 9.02 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

Sources for Cerebro-Oculo-Facio-Skeletal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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