UVSS
MCID: UVS001
MIFTS: 42

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 25 58 36 29 6 43 15 39 71
Uvss 52 25
Ultraviolet Sensitive Syndrome 25
Uv Sensitive Syndrome 52

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 43 C563466
UMLS via Orphanet 72 C1833561
Orphanet 58 ORPHA178338
UMLS 71 C1833561

Summaries for Uv-Sensitive Syndrome

Genetics Home Reference : 25 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 skin carcinoma and autosomal recessive disease, and has symptoms including dry skin An important gene associated with Uv-Sensitive Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Nucleotide excision repair and Ubiquitin mediated proteolysis. Affiliated tissues include skin and liver, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Increased TP53 mRNA expression

Disease Ontology : 12 An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).

KEGG : 36 UV-sensitive syndrome (UVSS) 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. UVSS and Cockayne syndrome [DS:H00076] are deficient in transcription-coupled repair (TC-NER), a subpathway of nucleotide-excision repair that rapidly removes transcription-blocking DNA damage. The cellular and biochemical responses of UVSS and Cockayne syndrome cells to UV light are indistinguishable. Some UVSS cases carry mutations in the Cockayne syndrome genes ERCC8 or ERCC6 (also known as CSA and CSB, respectively).

Wikipedia : 74 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 37)
# Related Disease Score Top Affiliating Genes
1 skin carcinoma 30.1 XPA H2AC18 ERCC6 ERCC3 DDB2
2 autosomal recessive disease 29.9 XPA H2AC18 GTF2H5 ERCC6 ERCC3 ERCC1
3 xeroderma pigmentosum, complementation group c 28.8 XPA RAD23B H2AC18 ERCC6 ERCC3 ERCC1
4 xeroderma pigmentosum, variant type 28.5 XPA XAB2 UVSSA USP7 RAD23B H2AC18
5 xeroderma pigmentosum group e 28.4 XPA RAD23B H2AC18 GTF2H5 ERCC6 ERCC3
6 cockayne syndrome 28.3 XPA XAB2 UVSSA USP7 TCEA3 TCEA1
7 uv-sensitive syndrome 3 13.0
8 uv-sensitive syndrome 2 13.0
9 uv-sensitive syndrome 1 12.9
10 cockayne syndrome type iii 10.4 ERCC8 ERCC6
11 de sanctis-cacchione syndrome 10.4 PGBD3 ERCC6
12 premature ovarian failure 11 10.3 PGBD3 ERCC6
13 xeroderma pigmentosum, complementation group e 10.2 XPA DDB2 DDB1
14 cerebro-oculo-facio-skeletal syndrome 10.1 PGBD3 ERCC6 ERCC3 ERCC1
15 cerebrooculofacioskeletal syndrome 1 10.1 ERCC6 ERCC1
16 hair disease 10.1 H2AC18 ERCC6 ERCC3
17 dowling-degos disease 1 10.1
18 erythrokeratoderma ''en cocardes'' 10.1
19 premature aging 10.1
20 cockayne syndrome b 10.0 POLR2A PGBD3 ERCC8 ERCC6 ERCC1
21 hutchinson-gilford progeria syndrome 10.0 XPA H2AC18 ERCC8 ERCC6 ERCC1
22 mutagen sensitivity 10.0 XPA RAD23B
23 cockayne syndrome a 9.9 ERCC8 ERCC6 ERCC3 ERCC1 DDB1
24 allergic hypersensitivity disease 9.9
25 melanoma 9.9
26 dyskeratosis congenita 9.9
27 skin melanoma 9.9
28 robinow syndrome, autosomal recessive 1 9.9 XPA UVSSA H2AC18 GTF2H5 ERCC8 ERCC6
29 autosomal genetic disease 9.8 XPA RAD23B H2AC18 ERCC6 ERCC1 DDB2
30 xeroderma pigmentosum, complementation group f 9.8 XPA RAD23B ERCC6 ERCC3 ERCC1 DDB2
31 fanconi anemia, complementation group a 9.7 XPA HMGN1 H2AC18 ERCC6 ERCC1 DDB2
32 xeroderma pigmentosum, complementation group a 9.7 XPA XAB2 RAD23B H2AC18 ERCC6 ERCC1
33 xfe progeroid syndrome 9.5 XPA XAB2 UVSSA HMGN1 GTF2H5 ERCC8
34 xeroderma pigmentosum, complementation group b 9.1 XPA RAD23B H2AC18 GTF2H5 ERCC8 ERCC6
35 xeroderma pigmentosum, complementation group d 9.1 XPA RAD23B H2AC18 GTF2H5 ERCC8 ERCC6
36 xeroderma pigmentosum, complementation group g 8.9 XPA UVSSA RAD23B H2AC18 GTF2H5 ERCC8
37 trichothiodystrophy 1, photosensitive 8.8 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

UMLS symptoms related to Uv-Sensitive Syndrome:


dry skin

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.36 CETN2 DDB1 DDB2 ERCC1 ERCC3 ERCC6
2 Increased TP53 mRNA expression GR00389-S-6 8.96 ERCC6 HMGN1

MGI Mouse Phenotypes related to Uv-Sensitive Syndrome:

45
# 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 ERCC6

Anatomical Context for Uv-Sensitive Syndrome

MalaCards organs/tissues related to Uv-Sensitive Syndrome:

40
Skin, Liver

Publications for Uv-Sensitive Syndrome

Articles related to Uv-Sensitive Syndrome:

(show all 45)
# Title Authors PMID Year
1
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. 61 6
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. 6 61
15486090 2004
6
Cockayne syndrome without typical clinical manifestations including neurologic abnormalities. 6 61
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
Heterogeneity and overlaps in nucleotide excision repair disorders. 61
30919937 2020
13
UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan. 61
31421932 2019
14
Solar UV damage to cellular DNA: from mechanisms to biological effects. 61
30065996 2018
15
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
16
Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state. 61
29625109 2018
17
Inhibition of UVSSA ubiquitination suppresses transcription-coupled nucleotide excision repair deficiency caused by dissociation from USP7. 61
29323787 2018
18
How many fish? Comparison of two underwater visual sampling methods for monitoring fish communities. 61
29942703 2018
19
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. 61
29057985 2017
20
Credentialing in interventional therapy in Europe - comparison of curricula including endovascular therapy of arterial diseases. 61
28240041 2017
21
Benzotriazole-type ultraviolet stabilizers and antioxidants in plastic marine debris and their new products. 61
27889215 2017
22
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
23
A C. elegans homolog for the UV-hypersensitivity syndrome disease gene UVSSA. 61
27043179 2016
24
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 61
27004399 2016
25
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. 61
26749132 2016
26
Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome. 61
26038566 2015
27
Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders. 61
25296907 2015
28
Multimorbidity Patterns in Hospitalized Older Patients: Associations among Chronic Diseases and Geriatric Syndromes. 61
26208112 2015
29
Hypomorphic PCNA mutation underlies a human DNA repair disorder. 61
24911150 2014
30
Differential impact of a complex environment on positive affect in an animal model of individual differences in emotionality. 61
23806722 2013
31
UVSSA and USP7, a new couple in transcription-coupled DNA repair. 61
23760561 2013
32
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
33
[Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome]. 61
23631307 2013
34
Multivariate and multiscale data assimilation in terrestrial systems: a review. 61
23443380 2012
35
UVSSA and USP7: new players regulating transcription-coupled nucleotide excision repair in human cells. 61
22621766 2012
36
UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. 61
22466611 2012
37
UVS is rare in seabirds. 61
21527267 2011
38
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. 61
21143350 2011
39
Hereditary photodermatoses. 61
20687498 2010
40
DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility. 61
19153657 2009
41
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. 61
16129663 2006
42
UV-sensitive syndrome. 61
15916784 2005
43
UVs syndrome: establishment and characterization of fibroblastic cell lines transformed with simian virus 40 DNA. 61
10620123 2000
44
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
45
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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC6 NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)SNV Pathogenic 1701 rs121917901 10:50686483-50686483 10:49478437-49478437
2 ERCC6 NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)SNV Pathogenic 1703 rs121917902 10:50732119-50732119 10:49524073-49524073
3 ERCC6 NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)SNV Pathogenic 1708 rs121917903 10:50740782-50740782 10:49532736-49532736
4 ERCC6 NM_000124.4(ERCC6):c.2830-2A>GSNV Pathogenic 190163 rs373227647 10:50680518-50680518 10:49472472-49472472
5 ERCC6 NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)SNV Pathogenic/Likely pathogenic 430298 rs376526037 10:50691550-50691550 10:49483504-49483504
6 ERCC6 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)SNV Conflicting interpretations of pathogenicity 190156 rs61760163 10:50690906-50690906 10:49482860-49482860
7 ERCC6 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)SNV Conflicting interpretations of pathogenicity 190164 rs139007661 10:50678884-50678884 10:49470838-49470838
8 ERCC6 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn)SNV Conflicting interpretations of pathogenicity 190151 rs116373975 10:50708610-50708610 10:49500564-49500564
9 ERCC6 NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser)SNV Uncertain significance 195555 rs574272317 10:50667277-50667277 10:49459231-49459231
10 ERCC6 NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly)SNV Uncertain significance 190173 rs745352643 10:50667157-50667157 10:49459111-49459111

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
13.56 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
11.68 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 9.93 XPA XAB2 USP7 TCEA3 TCEA2 TCEA1
2 nucleoplasm GO:0005654 9.55 XPA XAB2 UVSSA USP7 TCEA1 RAD23B
3 transcription factor TFIIH holo complex GO:0005675 9.52 GTF2H5 ERCC3
4 Prp19 complex GO:0000974 9.51 XAB2 POLR2A
5 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.5 ERCC8 DDB2 DDB1
6 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.49 ERCC8 DDB1
7 transcription factor TFIIH core complex GO:0000439 9.48 GTF2H5 ERCC3
8 nucleotide-excision repair complex GO:0000109 9.46 ERCC8 ERCC1
9 transcription factor TFIID complex GO:0005669 9.46 TCEA1 GTF2H5 ERCC3 ERCC1
10 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.43 DDB2 DDB1
11 transcription elongation factor complex GO:0008023 9.43 TCEA2 PGBD3 ERCC6
12 XPC complex GO:0071942 9.4 RAD23B CETN2
13 nucleotide-excision repair factor 1 complex GO:0000110 9.37 XPA ERCC1

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 10.09 UVSSA USP7 ERCC8 DDB2 DDB1
2 transcription by RNA polymerase II GO:0006366 10.08 TCEA1 POLR2A PGBD3 GTF2H5 ERCC6 ERCC3
3 response to oxidative stress GO:0006979 10.02 XPA PGBD3 ERCC8 ERCC6 ERCC3 ERCC1
4 cellular response to DNA damage stimulus GO:0006974 10 XPA XAB2 UVSSA USP7 RAD23B PGBD3
5 transcription, DNA-templated GO:0006351 9.99 XAB2 TCEA3 TCEA2 TCEA1 POLR2A
6 nucleotide-excision repair, DNA incision GO:0033683 9.99 XPA GTF2H5 ERCC3 ERCC1 DDB2 DDB1
7 response to UV GO:0009411 9.98 XPA UVSSA PGBD3 ERCC8 ERCC6 ERCC3
8 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.97 XPA GTF2H5 ERCC3 ERCC1 DDB2 DDB1
9 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.95 XPA GTF2H5 ERCC3 ERCC1 DDB2 DDB1
10 nucleotide-excision repair, preincision complex assembly GO:0006294 9.95 XPA RAD23B GTF2H5 ERCC3 DDB2 DDB1
11 multicellular organism growth GO:0035264 9.94 XPA PGBD3 ERCC6 ERCC1
12 DNA duplex unwinding GO:0032508 9.93 PGBD3 ERCC8 ERCC6 ERCC3
13 transcription elongation from RNA polymerase II promoter GO:0006368 9.93 TCEA1 POLR2A GTF2H5 ERCC3
14 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.93 XPA GTF2H5 ERCC3 ERCC1 DDB2 DDB1
15 nucleotide-excision repair, DNA damage recognition GO:0000715 9.92 XPA RAD23B DDB2 DDB1 CETN2
16 global genome nucleotide-excision repair GO:0070911 9.92 XPA RAD23B GTF2H5 ERCC3 ERCC1 DDB2
17 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.91 XPA RAD23B GTF2H5 ERCC3 DDB2 DDB1
18 nucleotide-excision repair GO:0006289 9.91 XPA RAD23B GTF2H5 ERCC8 ERCC3 ERCC1
19 transcription elongation from RNA polymerase I promoter GO:0006362 9.87 PGBD3 GTF2H5 ERCC6 ERCC3
20 response to toxic substance GO:0009636 9.86 XPA PGBD3 ERCC6
21 response to X-ray GO:0010165 9.86 PGBD3 ERCC8 ERCC6 ERCC1
22 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.84 XPA PGBD3 ERCC6
23 UV-damage excision repair GO:0070914 9.84 XPA ERCC1 DDB2 DDB1
24 base-excision repair GO:0006284 9.83 XPA PGBD3 ERCC6
25 embryonic organ development GO:0048568 9.83 RAD23B ERCC3 ERCC1
26 positive regulation of DNA repair GO:0045739 9.82 PGBD3 ERCC8 ERCC6
27 7-methylguanosine mRNA capping GO:0006370 9.82 POLR2A GTF2H5 ERCC3
28 positive regulation of DNA-templated transcription, elongation GO:0032786 9.8 PGBD3 HMGN1 ERCC6
29 transcription-coupled nucleotide-excision repair GO:0006283 9.8 XPA XAB2 UVSSA USP7 TCEA1 POLR2A
30 UV protection GO:0009650 9.79 XPA ERCC3 ERCC1
31 regulation of DNA-templated transcription, elongation GO:0032784 9.79 TCEA2 PGBD3 ERCC6
32 response to UV-B GO:0010224 9.78 PGBD3 HMGN1 ERCC6
33 double-strand break repair via classical nonhomologous end joining GO:0097680 9.76 PGBD3 ERCC8 ERCC6
34 pyrimidine dimer repair GO:0006290 9.75 PGBD3 ERCC6 DDB2
35 positive regulation of peptidyl-serine phosphorylation of STAT protein GO:0033141 9.69 PGBD3 ERCC6
36 response to auditory stimulus GO:0010996 9.68 XPA ERCC8
37 histone H2A monoubiquitination GO:0035518 9.68 DDB2 DDB1
38 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.68 PGBD3 ERCC6
39 activation of JNKK activity GO:0007256 9.68 PGBD3 ERCC6
40 single strand break repair GO:0000012 9.67 ERCC8 ERCC6
41 negative regulation of double-strand break repair via nonhomologous end joining GO:2001033 9.67 PGBD3 ERCC6
42 response to superoxide GO:0000303 9.66 PGBD3 ERCC6
43 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.66 HMGN1 ERCC1
44 DNA repair GO:0006281 9.47 XPA XAB2 UVSSA USP7 RAD23B PGBD3

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.36 XPA XAB2 UVSSA USP7 TCEA2 TCEA1
2 DNA binding GO:0003677 9.77 XPA TCEA3 TCEA2 TCEA1 POLR2A PGBD3
3 protein-containing complex binding GO:0044877 9.72 PGBD3 ERCC8 ERCC6 DDB2 DDB1
4 protein N-terminus binding GO:0047485 9.63 PGBD3 ERCC6 ERCC3
5 protein C-terminus binding GO:0008022 9.63 USP7 POLR2A PGBD3 ERCC6 ERCC3 ERCC1
6 DNA-dependent ATPase activity GO:0008094 9.56 PGBD3 ERCC8 ERCC6 ERCC3
7 DNA helicase activity GO:0003678 9.54 ERCC8 ERCC6 ERCC3
8 protein tyrosine kinase activator activity GO:0030296 9.4 PGBD3 ERCC6
9 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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