UVSS
MCID: UVS001
MIFTS: 41

Uv-Sensitive Syndrome (UVSS)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome

MalaCards integrated aliases for Uv-Sensitive Syndrome:

Name: Uv-Sensitive Syndrome 12 43 58 36 29 44 15 39 70
Uvss 20 43
Ultraviolet Sensitive Syndrome 43
Uv Sensitive Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
uv-sensitive syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060240
KEGG 36 H02131
MeSH 44 C563466
UMLS via Orphanet 71 C1833561
Orphanet 58 ORPHA178338
UMLS 70 C1833561

Summaries for Uv-Sensitive Syndrome

MedlinePlus Genetics : 43 UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.

MalaCards based summary : Uv-Sensitive Syndrome, also known as uvss, is related to uv-sensitive syndrome 1 and autosomal recessive disease. An important gene associated with Uv-Sensitive Syndrome is UVSSA (UV Stimulated Scaffold Protein A), and among its related pathways/superpathways are Nucleotide excision repair and Ubiquitin mediated proteolysis. Affiliated tissues include skin, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Disease Ontology : 12 A skin disease characterized by photosensitivity and liver spots (solar lentigines).

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178338 Definition A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.

KEGG : 36 UV-sensitive syndrome (UV(S)S) is an autosomal recessive disorder characterized by mild photosensitivity in sun-exposed areas of the skin, with freckling and telangiectasia, but without the high propensity to skin cancer. UV(S)S and Cockayne syndrome [DS:H00076] are deficient in transcription-coupled nucleotide excision repair (TC-NER), a subpathway of nucleotide-excision repair (NER) that rapidly removes transcription-blocking DNA damage. The cellular and biochemical responses of UV(S)S and Cockayne syndrome cells to UV light are indistinguishable. Some UV(S)S cases carry mutations in the Cockayne syndrome genes ERCC8 or ERCC6 (also known as CSA and CSB, respectively).

Wikipedia : 73 UV-sensitive syndrome is a cutaneous condition inherited in an autosomal recessive fashion,... more...

Related Diseases for Uv-Sensitive Syndrome

Diseases in the Uv-Sensitive Syndrome family:

Uv-Sensitive Syndrome 1 Uv-Sensitive Syndrome 2
Uv-Sensitive Syndrome 3

Diseases related to Uv-Sensitive Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 uv-sensitive syndrome 1 33.2 PGBD3 ERCC6
2 autosomal recessive disease 30.4 XPA H2AC18 GTF2H5 ERCC6 ERCC3
3 skin carcinoma 29.9 XPA H2AC18 ERCC6 ERCC3 DDB2
4 cockayne syndrome 29.6 XPA XAB2 UVSSA USP7 TCEA3 TCEA1
5 xeroderma pigmentosum, variant type 29.5 XPA XAB2 UVSSA USP7 TCEA2 RAD23B
6 xeroderma pigmentosum group e 29.4 XPA UVSSA RAD23B H2AC18 GTF2H5 ERCC6
7 uv-sensitive syndrome 3 11.8
8 uv-sensitive syndrome 2 11.8
9 cockayne syndrome type iii 10.4 ERCC8 ERCC6
10 robinow syndrome 10.4 UVSSA H2AC18 ERCC6
11 macular degeneration, age-related, 5 10.4 PGBD3 ERCC6
12 premature ovarian failure 11 10.3 PGBD3 ERCC6
13 de sanctis-cacchione syndrome 10.3 PGBD3 ERCC6
14 cerebrooculofacioskeletal syndrome 1 10.3 PGBD3 ERCC6 ERCC1
15 photoparoxysmal response 1 10.3 XPA ERCC6 ERCC1
16 cerebro-oculo-facio-skeletal syndrome 10.3 ERCC6 ERCC3 ERCC1
17 xeroderma pigmentosum, complementation group e 10.3 XPA DDB2 DDB1
18 trichothiodystrophy 1, photosensitive 10.3 GTF2H5 ERCC6 ERCC3
19 trichothiodystrophy 2, photosensitive 10.2 GTF2H5 ERCC3
20 hair disease 10.2 H2AC18 ERCC6 ERCC3
21 mutagen sensitivity 10.2 XPA RAD23B
22 autosomal genetic disease 10.2 XPA H2AC18 ERCC6 ERCC1
23 hutchinson-gilford progeria syndrome 10.2 XPA H2AC18 ERCC8 ERCC6 ERCC1
24 trichothiodystrophy 10.2 XPA GTF2H5 ERCC6 ERCC3 ERCC1
25 ifap syndrome 1, with or without bresheck syndrome 10.1 GTF2H5 ERCC3
26 cockayne syndrome b 10.1 POLR2A PGBD3 ERCC8 ERCC6 ERCC1 DDB1
27 severe combined immunodeficiency with sensitivity to ionizing radiation 10.1 H2AC18 ERCC6
28 allergic disease 10.1
29 erythrokeratoderma ''en cocardes'' 10.1
30 xeroderma pigmentosum, complementation group f 10.1 XPA RAD23B ERCC6 ERCC3 ERCC1 DDB2
31 fanconi anemia, complementation group a 10.1 XPA HMGN1 H2AC18 ERCC6 ERCC1 DDB2
32 trichothiodystrophy 3, photosensitive 10.0 UVSSA TCEA2 GTF2H5 ERCC6 ERCC3 DDB2
33 xfe progeroid syndrome 10.0 XPA XAB2 UVSSA GTF2H5 ERCC8 ERCC6
34 xeroderma pigmentosum, complementation group a 10.0 XPA XAB2 RAD23B H2AC18 ERCC6 ERCC1
35 dowling-degos disease 1 9.9
36 skin melanoma 9.9
37 premature aging 9.9
38 robinow syndrome, autosomal recessive 1 9.9 XPA UVSSA H2AC18 GTF2H5 ERCC8 ERCC6
39 xeroderma pigmentosum, complementation group c 9.8 XPA RAD23B H2AC18 ERCC6 ERCC3 ERCC1
40 cockayne syndrome a 9.7 XPA XAB2 TCEA3 TCEA1 POLR2A HMGN1
41 xeroderma pigmentosum, complementation group d 9.7 XPA RAD23B H2AC18 GTF2H5 ERCC8 ERCC6
42 xeroderma pigmentosum, complementation group b 9.6 XPA UVSSA RAD23B H2AC18 GTF2H5 ERCC8
43 xeroderma pigmentosum, complementation group g 9.5 XPA XAB2 UVSSA RAD23B H2AC18 GTF2H5

Graphical network of the top 20 diseases related to Uv-Sensitive Syndrome:



Diseases related to Uv-Sensitive Syndrome

Symptoms & Phenotypes for Uv-Sensitive Syndrome

GenomeRNAi Phenotypes related to Uv-Sensitive 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 9.55 DDB2 ERCC6 XAB2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.55 DDB2 ERCC1 ERCC6 ERCC8
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.55 CETN2 DDB1 DDB2 ERCC1 ERCC3 ERCC6
4 Decreased TP53 mRNA expression GR00389-S-5 9.26 ERCC6 HMGN1
5 Decreased TP53 mRNA expression GR00389-S-6 9.26 ERCC6 HMGN1

MGI Mouse Phenotypes related to Uv-Sensitive Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 CETN2 DDB1 DDB2 ERCC1 ERCC3 ERCC6
2 mortality/aging MP:0010768 9.83 CETN2 DDB1 DDB2 ERCC1 ERCC3 ERCC6
3 integument MP:0010771 9.81 DDB2 ERCC1 ERCC3 ERCC6 ERCC8 HMGN1
4 neoplasm MP:0002006 9.23 DDB2 ERCC1 ERCC3 ERCC6 ERCC8 HMGN1

Drugs & Therapeutics for Uv-Sensitive Syndrome

Search Clinical Trials , NIH Clinical Center for Uv-Sensitive Syndrome

Cochrane evidence based reviews: uv-sensitive syndrome

Genetic Tests for Uv-Sensitive Syndrome

Genetic tests related to Uv-Sensitive Syndrome:

# Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 29

Anatomical Context for Uv-Sensitive Syndrome

MalaCards organs/tissues related to Uv-Sensitive Syndrome:

40
Skin

Publications for Uv-Sensitive Syndrome

Articles related to Uv-Sensitive Syndrome:

(show all 46)
# Title Authors PMID Year
1
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. 6 61
22466610 2012
2
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. 61 6
22466612 2012
3
The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells. 6 61
22483866 2012
4
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. 6 61
19329487 2009
5
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. 61 6
15486090 2004
6
Cockayne syndrome without typical clinical manifestations including neurologic abnormalities. 61 6
9777763 1998
7
A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations. 6 61
7513056 1994
8
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them. 6
10771487 2000
9
Xeroderma pigmentosum complementation group E: a case report. 6
3774595 1986
10
Assignment of 2 patients with xeroderma pigmentosum to complementation group E. 6
3974603 1985
11
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. 6
7264357 1981
12
In Silico Drug Repurposing by Structural Alteration after Induced Fit: Discovery of a Candidate Agent for Recovery of Nucleotide Excision Repair in Xeroderma Pigmentosum Group D Mutant (R683W). 61
33802476 2021
13
Heterogeneity and overlaps in nucleotide excision repair disorders. 61
30919937 2020
14
UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan. 61
31421932 2019
15
Solar UV damage to cellular DNA: from mechanisms to biological effects. 61
30065996 2018
16
What happens at the lesion does not stay at the lesion: Transcription-coupled nucleotide excision repair and the effects of DNA damage on transcription in cis and trans. 61
30195642 2018
17
Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state. 61
29625109 2018
18
Inhibition of UVSSA ubiquitination suppresses transcription-coupled nucleotide excision repair deficiency caused by dissociation from USP7. 61
29323787 2018
19
How many fish? Comparison of two underwater visual sampling methods for monitoring fish communities. 61
29942703 2018
20
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. 61
29057985 2017
21
Credentialing in interventional therapy in Europe - comparison of curricula including endovascular therapy of arterial diseases. 61
28240041 2017
22
Benzotriazole-type ultraviolet stabilizers and antioxidants in plastic marine debris and their new products. 61
27889215 2017
23
Stabilization of Ultraviolet (UV)-stimulated Scaffold Protein A by Interaction with Ubiquitin-specific Peptidase 7 Is Essential for Transcription-coupled Nucleotide Excision Repair. 61
27129218 2016
24
A C. elegans homolog for the UV-hypersensitivity syndrome disease gene UVSSA. 61
27043179 2016
25
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 61
27004399 2016
26
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. 61
26749132 2016
27
Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome. 61
26038566 2015
28
Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders. 61
25296907 2015
29
Multimorbidity Patterns in Hospitalized Older Patients: Associations among Chronic Diseases and Geriatric Syndromes. 61
26208112 2015
30
Hypomorphic PCNA mutation underlies a human DNA repair disorder. 61
24911150 2014
31
Differential impact of a complex environment on positive affect in an animal model of individual differences in emotionality. 61
23806722 2013
32
UVSSA and USP7, a new couple in transcription-coupled DNA repair. 61
23760561 2013
33
Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease. 61
23683874 2013
34
[Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome]. 61
23631307 2013
35
Multivariate and multiscale data assimilation in terrestrial systems: a review. 61
23443380 2012
36
UVSSA and USP7: new players regulating transcription-coupled nucleotide excision repair in human cells. 61
22621766 2012
37
UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. 61
22466611 2012
38
UVS is rare in seabirds. 61
21527267 2011
39
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. 61
21143350 2011
40
Hereditary photodermatoses. 61
20687498 2010
41
DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility. 61
19153657 2009
42
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. 61
16129663 2006
43
UV-sensitive syndrome. 61
15916784 2005
44
UVs syndrome: establishment and characterization of fibroblastic cell lines transformed with simian virus 40 DNA. 61
10620123 2000
45
Aberrant p21WAF1-dependent growth arrest as the possible mechanism of abnormal resistance to ultraviolet light cytotoxicity in Li-Fraumeni syndrome fibroblast strains heterozygous for TP53 mutations. 61
9704919 1998
46
A four-stranded DNA from Bacillus subtilis which may be an intermediate in genetic recombination. 61
818506 1976

Variations for Uv-Sensitive Syndrome

ClinVar genetic disease variations for Uv-Sensitive Syndrome:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) SNV Pathogenic 1708 rs121917903 GRCh37: 10:50740782-50740782
GRCh38: 10:49532736-49532736
2 ERCC8 NM_000082.3(ERCC8):c.1083G>T (p.Trp361Cys) SNV Pathogenic 68752 rs281875221 GRCh37: 5:60183306-60183306
GRCh38: 5:60887479-60887479
3 UVSSA NM_020894.4(UVSSA):c.367A>T (p.Lys123Ter) SNV Pathogenic 31569 rs387907163 GRCh37: 4:1343580-1343580
GRCh38: 4:1349792-1349792
4 UVSSA NM_020894.4(UVSSA):c.87del (p.Ile31fs) Deletion Pathogenic 31570 rs778975867 GRCh37: 4:1341966-1341966
GRCh38: 4:1348178-1348178
5 UVSSA NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg) SNV Pathogenic 31571 rs387907164 GRCh37: 4:1341973-1341973
GRCh38: 4:1348185-1348185
6 ERCC6 NM_000124.4(ERCC6):c.2830-2A>G SNV Pathogenic 190163 rs373227647 GRCh37: 10:50680518-50680518
GRCh38: 10:49472472-49472472
7 ERCC6 NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) SNV Pathogenic 1701 rs121917901 GRCh37: 10:50686483-50686483
GRCh38: 10:49478437-49478437
8 ERCC6 NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) SNV Pathogenic 430298 rs376526037 GRCh37: 10:50691550-50691550
GRCh38: 10:49483504-49483504
9 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) SNV Pathogenic 1703 rs121917902 GRCh37: 10:50732119-50732119
GRCh38: 10:49524073-49524073
10 ERCC8 NM_000082.3(ERCC8):c.1042-2A>G SNV Pathogenic 551594 rs372237310 GRCh37: 5:60183349-60183349
GRCh38: 5:60887522-60887522
11 ERCC6 NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) SNV Uncertain significance 190173 rs745352643 GRCh37: 10:50667157-50667157
GRCh38: 10:49459111-49459111
12 ERCC6 NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) SNV Uncertain significance 195555 rs574272317 GRCh37: 10:50667277-50667277
GRCh38: 10:49459231-49459231
13 ERCC8 NM_000082.3(ERCC8):c.1012G>A (p.Asp338Asn) SNV Uncertain significance 546240 rs141845482 GRCh37: 5:60186745-60186745
GRCh38: 5:60890918-60890918
14 ERCC6 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) SNV Uncertain significance 190151 rs116373975 GRCh37: 10:50708610-50708610
GRCh38: 10:49500564-49500564
15 ERCC6 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) SNV Uncertain significance 190156 rs61760163 GRCh37: 10:50690906-50690906
GRCh38: 10:49482860-49482860
16 ERCC6 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) SNV Uncertain significance 190164 rs139007661 GRCh37: 10:50678884-50678884
GRCh38: 10:49470838-49470838
17 UVSSA NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu) SNV Benign 802047 rs28522910 GRCh37: 4:1374774-1374774
GRCh38: 4:1380986-1380986

Expression for Uv-Sensitive Syndrome

Search GEO for disease gene expression data for Uv-Sensitive Syndrome.

Pathways for Uv-Sensitive Syndrome

Pathways related to Uv-Sensitive Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Nucleotide excision repair hsa03420
2 Ubiquitin mediated proteolysis hsa04120

Pathways related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 XAB2 USP7 TCEA1 POLR2A H2AC18 GTF2H5
2
Show member pathways
12.77 TCEA3 TCEA2 TCEA1 POLR2A GTF2H5 ERCC3
3
Show member pathways
12.7 USP7 TCEA1 POLR2A GTF2H5 ERCC3 DDB2
4
Show member pathways
12.59 XPA XAB2 UVSSA USP7 TCEA1 RAD23B
5
Show member pathways
12.53 XPA XAB2 UVSSA USP7 TCEA1 RAD23B
6
Show member pathways
12.47 XPA XAB2 RAD23B POLR2A ERCC8 ERCC6
7 12.34 XPA RAD23B POLR2A ERCC3 ERCC1 DDB2
8
Show member pathways
11.96 XPA RAD23B POLR2A GTF2H5 ERCC8 ERCC6
9
Show member pathways
11.7 GTF2H5 ERCC6 ERCC3
10 11.13 XPA ERCC6 ERCC3 ERCC1

GO Terms for Uv-Sensitive Syndrome

Cellular components related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.91 XPA XAB2 USP7 TCEA3 TCEA2 TCEA1
2 nucleoplasm GO:0005654 9.58 XPA XAB2 UVSSA USP7 TCEA2 TCEA1
3 transcription factor TFIID complex GO:0005669 9.54 TCEA1 GTF2H5 ERCC3
4 transcription elongation factor complex GO:0008023 9.52 TCEA2 ERCC6
5 transcription factor TFIIH holo complex GO:0005675 9.51 GTF2H5 ERCC3
6 Prp19 complex GO:0000974 9.49 XAB2 POLR2A
7 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.48 ERCC8 DDB1
8 transcription factor TFIIH core complex GO:0000439 9.46 GTF2H5 ERCC3
9 nucleotide-excision repair complex GO:0000109 9.43 ERCC8 ERCC1
10 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.4 DDB2 DDB1
11 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.33 ERCC8 DDB2 DDB1
12 XPC complex GO:0071942 9.32 RAD23B CETN2
13 nucleotide-excision repair factor 1 complex GO:0000110 9.26 XPA ERCC1

Biological processes related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 10.06 UVSSA USP7 ERCC8 DDB2 DDB1
2 transcription by RNA polymerase II GO:0006366 9.97 TCEA1 POLR2A GTF2H5 ERCC6 ERCC3
3 nucleotide-excision repair, DNA incision GO:0033683 9.97 XPA GTF2H5 ERCC3 ERCC1 DDB2 DDB1
4 cellular response to DNA damage stimulus GO:0006974 9.97 XPA XAB2 UVSSA USP7 RAD23B GTF2H5
5 transcription, DNA-templated GO:0006351 9.95 XAB2 TCEA3 TCEA2 TCEA1 POLR2A
6 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.95 XPA GTF2H5 ERCC3 ERCC1 DDB2 DDB1
7 nucleotide-excision repair, preincision complex assembly GO:0006294 9.95 XPA RAD23B GTF2H5 ERCC3 DDB2 DDB1
8 response to UV GO:0009411 9.93 UVSSA ERCC8 ERCC6 ERCC3 DDB2
9 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.93 XPA GTF2H5 ERCC3 ERCC1 DDB2 DDB1
10 global genome nucleotide-excision repair GO:0070911 9.92 XPA RAD23B GTF2H5 ERCC3 ERCC1 DDB2
11 response to oxidative stress GO:0006979 9.91 ERCC8 ERCC6 ERCC3 ERCC1
12 nucleotide-excision repair, DNA damage recognition GO:0000715 9.91 XPA RAD23B DDB2 DDB1 CETN2
13 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.91 XPA GTF2H5 ERCC3 ERCC1 DDB2 DDB1
14 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.91 XPA RAD23B GTF2H5 ERCC3 DDB2 DDB1
15 nucleotide-excision repair GO:0006289 9.91 XPA RAD23B GTF2H5 ERCC8 ERCC3 ERCC1
16 transcription elongation from RNA polymerase II promoter GO:0006368 9.88 TCEA1 POLR2A GTF2H5 ERCC3
17 UV-damage excision repair GO:0070914 9.83 XPA ERCC1 DDB2 DDB1
18 DNA duplex unwinding GO:0032508 9.82 ERCC8 ERCC6 ERCC3
19 embryonic organ development GO:0048568 9.79 RAD23B ERCC3 ERCC1
20 7-methylguanosine mRNA capping GO:0006370 9.77 POLR2A GTF2H5 ERCC3
21 transcription elongation from RNA polymerase I promoter GO:0006362 9.77 GTF2H5 ERCC6 ERCC3
22 transcription-coupled nucleotide-excision repair GO:0006283 9.77 XPA XAB2 UVSSA USP7 TCEA1 POLR2A
23 response to X-ray GO:0010165 9.76 ERCC8 ERCC6 ERCC1
24 UV protection GO:0009650 9.73 XPA ERCC3 ERCC1
25 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.67 ERCC6 ERCC1
26 positive regulation of DNA-templated transcription, elongation GO:0032786 9.66 HMGN1 ERCC6
27 response to auditory stimulus GO:0010996 9.65 XPA ERCC8
28 histone H2A monoubiquitination GO:0035518 9.65 DDB2 DDB1
29 single strand break repair GO:0000012 9.64 ERCC8 ERCC6
30 regulation of DNA-templated transcription, elongation GO:0032784 9.64 TCEA2 ERCC6
31 response to UV-B GO:0010224 9.63 HMGN1 ERCC6
32 double-strand break repair via classical nonhomologous end joining GO:0097680 9.63 ERCC8 ERCC6
33 pyrimidine dimer repair GO:0006290 9.62 ERCC6 DDB2
34 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.62 HMGN1 ERCC1
35 DNA repair GO:0006281 9.44 XPA XAB2 UVSSA USP7 RAD23B GTF2H5

Molecular functions related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.73 XPA TCEA3 TCEA2 TCEA1 POLR2A HMGN1
2 protein C-terminus binding GO:0008022 9.55 USP7 POLR2A ERCC6 ERCC3 ERCC1
3 DNA helicase activity GO:0003678 9.5 ERCC8 ERCC6 ERCC3
4 promoter-specific chromatin binding GO:1990841 9.43 POLR2A ERCC3 ERCC1
5 damaged DNA binding GO:0003684 9.1 XPA RAD23B ERCC3 ERCC1 DDB2 DDB1

Sources for Uv-Sensitive 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
Content
Loading form....