COFS1
MCID: CRB101
MIFTS: 45

Cerebrooculofacioskeletal Syndrome 1 (COFS1)

Categories: Bone diseases, Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 1

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 1:

Name: Cerebrooculofacioskeletal Syndrome 1 57 13
Cofs Syndrome 57 76 75 55
Cofs1 57 75
Cerebro-Oculo-Facio-Skeletal Syndrome 1 75
Pena-Shokeir Syndrome, Type Ii 57
Pena-Shokeir Syndrome Type 2 75
Pena Shokeir Syndrome Type 2 73
Cofs Syndrome; Cofs 57
Cofs 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in childhood


HPO:

32
cerebrooculofacioskeletal syndrome 1:
Mortality/Aging death in infancy death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrooculofacioskeletal Syndrome 1

UniProtKB/Swiss-Prot : 75 Cerebro-oculo-facio-skeletal syndrome 1: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.

MalaCards based summary : Cerebrooculofacioskeletal Syndrome 1, also known as cofs syndrome, is related to cerebro-oculo-facio-skeletal syndrome and cockayne syndrome type ii. An important gene associated with Cerebrooculofacioskeletal Syndrome 1 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, skin and bone, and related phenotypes are short neck and agenesis of corpus callosum

OMIM : 57 Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). (214150)

Wikipedia : 76 Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive... more...

Related Diseases for Cerebrooculofacioskeletal Syndrome 1

Graphical network of the top 20 diseases related to Cerebrooculofacioskeletal Syndrome 1:



Diseases related to Cerebrooculofacioskeletal Syndrome 1

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
agenesis of corpus callosum
cerebellar hypoplasia
delayed myelination
hypotonia
mental retardation, profound
more
Growth Weight:
failure to thrive
normal or decreased birth weight

Skeletal:
osteoporosis
arthrogryposis

Skeletal Pelvis:
coxa valga
shallow acetabular angle

Skeletal Spine:
kyphoscoliosis

Skin Nails Hair Hair:
hirsutism

Head And Neck Ears:
sensorineural hearing loss
large ear pinnae

Head And Neck Mouth:
thin lips
upper lip overlaps lower lip

Laboratory Abnormalities:
fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner)

Head And Neck Eyes:
nystagmus
microphthalmia
blepharophimosis
cataracts
deep-set eyes

Head And Neck Head:
microcephaly

Head And Neck Face:
long philtrum
micrognathia
sloping forehead

Skeletal Limbs:
elbow flexion contracture
knee flexion contracture

Skeletal Hands:
camptodactyly

Chest Breasts:
widely spaced nipples

Skeletal Feet:
vertical talus
rocker-bottom feet
longitudinal groove on soles
second metatarsal posteriorly placed

Head And Neck Nose:
prominent nasal root


Clinical features from OMIM:

214150

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 1:

32 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 short neck 32 frequent (33%) HP:0000470
2 agenesis of corpus callosum 32 HP:0001274
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 seizures 32 frequent (33%) HP:0001250
6 muscular hypotonia 32 hallmark (90%) HP:0001252
7 failure to thrive 32 HP:0001508
8 cerebral calcification 32 hallmark (90%) HP:0002514
9 cataract 32 hallmark (90%) HP:0000518
10 wide nasal bridge 32 hallmark (90%) HP:0000431
11 joint stiffness 32 hallmark (90%) HP:0001387
12 microcephaly 32 hallmark (90%) HP:0000252
13 sensorineural hearing impairment 32 frequent (33%) HP:0000407
14 visual impairment 32 frequent (33%) HP:0000505
15 optic atrophy 32 occasional (7.5%) HP:0000648
16 short stature 32 hallmark (90%) HP:0004322
17 abnormality of retinal pigmentation 32 occasional (7.5%) HP:0007703
18 hypertonia 32 hallmark (90%) HP:0001276
19 feeding difficulties in infancy 32 hallmark (90%) HP:0008872
20 osteoporosis 32 HP:0000939
21 long philtrum 32 HP:0000343
22 micrognathia 32 hallmark (90%) HP:0000347
23 peripheral neuropathy 32 occasional (7.5%) HP:0009830
24 coxa valga 32 HP:0002673
25 severe global developmental delay 32 hallmark (90%) HP:0011344
26 everted lower lip vermilion 32 hallmark (90%) HP:0000232
27 abnormal nasal morphology 32 hallmark (90%) HP:0005105
28 intrauterine growth retardation 32 frequent (33%) HP:0001511
29 wide intermamillary distance 32 HP:0006610
30 abnormality of immune system physiology 32 frequent (33%) HP:0010978
31 reduced tendon reflexes 32 frequent (33%) HP:0001315
32 elbow flexion contracture 32 HP:0002987
33 cerebral cortical atrophy 32 hallmark (90%) HP:0002120
34 arthrogryposis multiplex congenita 32 hallmark (90%) HP:0002804
35 aplasia/hypoplasia of the cerebellum 32 hallmark (90%) HP:0007360
36 hypogonadism 32 frequent (33%) HP:0000135
37 prominent nasal bridge 32 HP:0000426
38 cerebellar hypoplasia 32 HP:0001321
39 microphthalmia 32 hallmark (90%) HP:0000568
40 deeply set eye 32 HP:0000490
41 intellectual disability, profound 32 HP:0002187
42 blepharophimosis 32 HP:0000581
43 thin vermilion border 32 HP:0000233
44 cutaneous photosensitivity 32 frequent (33%) HP:0000992
45 camptodactyly of finger 32 hallmark (90%) HP:0100490
46 sloping forehead 32 HP:0000340
47 talipes 32 occasional (7.5%) HP:0001883
48 prominent metopic ridge 32 hallmark (90%) HP:0005487
49 generalized hypotonia 32 HP:0001290
50 kyphoscoliosis 32 HP:0002751

GenomeRNAi Phenotypes related to Cerebrooculofacioskeletal Syndrome 1 according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10 ERCC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10 ERCC6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10 ERCC6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10 ERCC6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10 ERCC2 ERCC6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10 ERCC6
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10 ERCC6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10 ERCC6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10 ERCC2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10 ERCC6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10 ERCC6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10 ERCC2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10 ERCC6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10 ERCC6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10 ERCC2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10 ERCC6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10 ERCC6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10 ERCC2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10 ERCC2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10 ERCC6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10 ERCC2
22 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 ERCC2 ERCC5 ERCC6

MGI Mouse Phenotypes related to Cerebrooculofacioskeletal Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.8 ERCC2 ERCC5 ERCC6

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 1

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 Cerebrooculofacioskeletal Syndrome 1

Genetic Tests for Cerebrooculofacioskeletal Syndrome 1

Anatomical Context for Cerebrooculofacioskeletal Syndrome 1

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 1:

41
Eye, Skin, Bone, Cerebellum

Publications for Cerebrooculofacioskeletal Syndrome 1

Articles related to Cerebrooculofacioskeletal Syndrome 1:

(show all 13)
# Title Authors Year
1
ERCC6 founder mutation identified in Finnish patients with COFS syndrome. ( 20456449 )
2010
2
MICRO syndrome: an entity distinct from COFS syndrome. ( 15216543 )
2004
3
Cerebro-oculo-facio-skeletal (COFS) syndrome in siblings. ( 15630331 )
2004
4
Prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome. ( 11084975 )
2000
5
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome. ( 9329459 )
1997
6
COFS syndrome with familial 1;16 translocation. ( 9001808 )
1996
7
Infantile spasms in COFS syndrome. ( 1930425 )
1991
8
Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes? ( 1741976 )
1991
9
Chondro-osseous changes in Cerebro-Oculo-Facial-Skeletal (COFS) syndrome. ( 7153815 )
1982
10
Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. ( 7063265 )
1982
11
COFS syndrome revisited. ( 728562 )
1978
12
Further evidence for the autosomal-recessive inheritance of the COFS syndrome. ( 825334 )
1976
13
Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. ( 4211825 )
1974

Variations for Cerebrooculofacioskeletal Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Cerebrooculofacioskeletal Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 ERCC6 p.Leu871Pro VAR_063514
2 ERCC6 p.Leu987Pro VAR_063515 rs121917905

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 1:

6 (show top 50) (show all 191)
# 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.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh37 Chromosome 10, 50690855: 50690855
7 ERCC6 NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh38 Chromosome 10, 49482809: 49482809
8 ERCC6 NM_000124.3(ERCC6): c.2960T> C (p.Leu987Pro) single nucleotide variant Pathogenic rs121917905 GRCh37 Chromosome 10, 50679131: 50679131
9 ERCC6 NM_000124.3(ERCC6): c.2960T> C (p.Leu987Pro) single nucleotide variant Pathogenic rs121917905 GRCh38 Chromosome 10, 49471085: 49471085
10 ERCC6 ERCC6, 2254A-G single nucleotide variant Pathogenic
11 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh37 Chromosome 19, 45856060: 45856060
12 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh38 Chromosome 19, 45352802: 45352802
13 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh37 Chromosome 10, 50669519: 50669519
14 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh38 Chromosome 10, 49461473: 49461473
15 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh37 Chromosome 10, 50732195: 50732195
16 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh38 Chromosome 10, 49524149: 49524149
17 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 NCBI36 Chromosome 10, 50402201: 50402201
18 ERCC2 NM_000400.3(ERCC2): c.1887G> C (p.Gln629His) single nucleotide variant Uncertain significance rs200665173 GRCh37 Chromosome 19, 45856019: 45856019
19 ERCC2 NM_000400.3(ERCC2): c.1887G> C (p.Gln629His) single nucleotide variant Uncertain significance rs200665173 GRCh38 Chromosome 19, 45352761: 45352761
20 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh38 Chromosome 10, 49459111: 49459111
21 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh37 Chromosome 10, 50667157: 50667157
22 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh37 Chromosome 10, 50669428: 50669429
23 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh38 Chromosome 10, 49461382: 49461383
24 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh38 Chromosome 10, 49470424: 49470424
25 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh37 Chromosome 10, 50678470: 50678470
26 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh37 Chromosome 10, 50678594: 50678594
27 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh38 Chromosome 10, 49470548: 49470548
28 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
29 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
30 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518
31 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh38 Chromosome 10, 49472472: 49472472
32 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh38 Chromosome 10, 49473613: 49473613
33 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh37 Chromosome 10, 50681659: 50681659
34 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh37 Chromosome 10, 50690735: 50690735
35 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh38 Chromosome 10, 49482689: 49482689
36 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh38 Chromosome 10, 49482760: 49482760
37 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh37 Chromosome 10, 50690806: 50690806
38 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
39 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
40 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh37 Chromosome 10, 50691430: 50691430
41 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh38 Chromosome 10, 49483384: 49483384
42 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh38 Chromosome 10, 49483503: 49483503
43 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh37 Chromosome 10, 50691549: 50691549
44 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
45 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
46 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh37 Chromosome 10, 50713929: 50713929
47 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh38 Chromosome 10, 49505883: 49505883
48 ERCC6 NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368728467 GRCh38 Chromosome 10, 49474074: 49474074
49 ERCC6 NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368728467 GRCh37 Chromosome 10, 50682120: 50682120
50 ERCC6 NM_000124.3(ERCC6): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751838040 GRCh38 Chromosome 10, 49530797: 49530797

Expression for Cerebrooculofacioskeletal Syndrome 1

Search GEO for disease gene expression data for Cerebrooculofacioskeletal Syndrome 1.

Pathways for Cerebrooculofacioskeletal Syndrome 1

Pathways related to Cerebrooculofacioskeletal Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 ERCC2 ERCC5 ERCC6
2
Show member pathways
12.17 ERCC2 ERCC5 ERCC6
3
Show member pathways
11.94 ERCC2 ERCC5 ERCC6
4
Show member pathways
11.37 ERCC2 ERCC6
5
Show member pathways
10.86 ERCC2 ERCC5 ERCC6
6 10.42 ERCC2 ERCC6

GO Terms for Cerebrooculofacioskeletal Syndrome 1

Biological processes related to Cerebrooculofacioskeletal Syndrome 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.63 ERCC2 ERCC5 ERCC6
2 response to oxidative stress GO:0006979 9.52 ERCC2 ERCC6
3 multicellular organism growth GO:0035264 9.51 ERCC2 ERCC6
4 DNA repair GO:0006281 9.5 ERCC2 ERCC5 ERCC6
5 DNA duplex unwinding GO:0032508 9.49 ERCC2 ERCC6
6 nucleotide-excision repair GO:0006289 9.48 ERCC2 ERCC5
7 nucleotide-excision repair, DNA incision GO:0033683 9.43 ERCC2 ERCC5
8 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.4 ERCC2 ERCC5
9 nucleotide-excision repair, preincision complex assembly GO:0006294 9.37 ERCC2 ERCC5
10 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.26 ERCC2 ERCC5
11 UV protection GO:0009650 9.16 ERCC2 ERCC5
12 transcription-coupled nucleotide-excision repair GO:0006283 9.13 ERCC2 ERCC5 ERCC6
13 response to UV GO:0009411 8.8 ERCC2 ERCC5 ERCC6

Molecular functions related to Cerebrooculofacioskeletal Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.58 ERCC2 ERCC5 ERCC6
2 hydrolase activity GO:0016787 9.5 ERCC2 ERCC5 ERCC6
3 protein-containing complex binding GO:0044877 9.37 ERCC5 ERCC6
4 protein C-terminus binding GO:0008022 9.26 ERCC2 ERCC6
5 helicase activity GO:0004386 9.16 ERCC2 ERCC6
6 DNA-dependent ATPase activity GO:0008094 8.96 ERCC2 ERCC6
7 protein N-terminus binding GO:0047485 8.8 ERCC2 ERCC5 ERCC6

Sources for Cerebrooculofacioskeletal Syndrome 1

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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