XPG
MCID: XRD014
MIFTS: 39

Xeroderma Pigmentosum, Group G (XPG) malady

Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Xeroderma Pigmentosum, Group G

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46OMIM, 32MalaCards
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MalaCards: Xeroderma Pigmentosum, Group G, also known as xeroderma pigmentosum complementation group g, is related to xeroderma pigmentosum and cockayne syndrome. An important gene associated with Xeroderma Pigmentosum, Group G is ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5), and among its related pathways are Lagging Strand Synthesis and Formation of RNA Pol II elongation complex . The compounds ecteinascidin 743 and atp have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related mouse phenotypes are immune system and hematopoietic system.

Description from OMIM:46 278780

Aliases & Classifications for Xeroderma Pigmentosum, Group G

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48Orphanet, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
xeroderma pigmentosum complementation group g:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

xeroderma pigmentosum, group g 46
xeroderma pigmentosum complementation group g 48
xpg 48


External Ids:

SNOMED-CT via Orphanet57 36454001
OMIM46 278780
ICD10 via Orphanet26 Q82.1

Related Diseases for Xeroderma Pigmentosum, Group G

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Group G:



Diseases related to xeroderma pigmentosum, group g

Clinical Features for Xeroderma Pigmentosum, Group G

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46OMIM
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Clinical features from OMIM:

278780

Clinical synopsis from OMIM:

278780

Drugs & Therapeutics for Xeroderma Pigmentosum, Group G

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Xeroderma Pigmentosum, Group G

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Anatomical Context for Xeroderma Pigmentosum, Group G

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32MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group G:

32
Eye, Skin

Animal Models for Xeroderma Pigmentosum, Group G or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group G:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.1ERCC2, ERCC5, FEN1, EXO1
2MP:00053977.8ERCC2, ERCC5, FEN1, EXO1

Publications for Xeroderma Pigmentosum, Group G

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Genetic Variations for Xeroderma Pigmentosum, Group G

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Xeroderma Pigmentosum, Group G:

62
id Symbol AA change Variation ID SNP ID
1ERCC5p.Ala792ValVAR_007733
2ERCC5p.Pro72HisVAR_015280
3ERCC5p.Ala874ThrVAR_017096rs28929496
4ERCC5p.Leu858ProVAR_017097

Expression for genes affiliated with Xeroderma Pigmentosum, Group G

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Group G

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Group G.

Pathways for genes affiliated with Xeroderma Pigmentosum, Group G

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53Reactome, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Xeroderma Pigmentosum, Group G according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3EXO1, FEN1
2
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9.2ERCC2, ERCC5
3
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9.2ERCC2, ERCC5
4
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8.7ERCC2, ERCC5, FEN1
5
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8.7ERCC2, ERCC5, FEN1

Compounds for genes affiliated with Xeroderma Pigmentosum, Group G

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44Novoseek, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Xeroderma Pigmentosum, Group G according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ecteinascidin 743449.3ERCC2, ERCC5
2atp44 289.9ERCC5, FEN1, EXO1
3cisplatin44 49 59 1111.7ERCC2, ERCC5, FEN1
4oligonucleotide448.6ERCC5, FEN1, EXO1
5magnesium44 11 2410.5FEN1, GEN1, ERCC2

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group G

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16Gene Ontology
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Cellular components related to Xeroderma Pigmentosum, Group G according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1holo TFIIH complexGO:0056759.1ERCC2, ERCC5
2nucleoplasmGO:0056548.7ERCC2, ERCC5, FEN1
3nucleusGO:0056347.2EXO1, FEN1, GEN1, ERCC5, ERCC2

Biological processes related to Xeroderma Pigmentosum, Group G according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repairGO:0062899.2ERCC2, ERCC5
2nucleotide-excision repair, DNA damage removalGO:0007189.1ERCC2, ERCC5
3transcription-coupled nucleotide-excision repairGO:0062838.9ERCC2, ERCC5
4UV protectionGO:0096508.7FEN1, ERCC5, ERCC2
5DNA repairGO:0062817.6ERCC2, ERCC5, GEN1, FEN1, EXO1

Molecular functions related to Xeroderma Pigmentosum, Group G according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:0036909.5ERCC5, FEN1
25-3 exonuclease activityGO:0084099.5EXO1, FEN1
3ribonuclease H activityGO:0045239.4EXO1, FEN1
4exonuclease activityGO:0045279.4FEN1, EXO1
5endonuclease activityGO:0045199.2ERCC5, GEN1, FEN1
6protein N-terminus bindingGO:0474858.9ERCC2, ERCC5
7DNA bindingGO:0036778.0EXO1, FEN1, GEN1, ERCC2
8metal ion bindingGO:0468728.0EXO1, GEN1, ERCC5, ERCC2

Products for genes affiliated with Xeroderma Pigmentosum, Group G

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  • Antibodies
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  • Antibodies

Sources for Xeroderma Pigmentosum, Group G

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet