Xeroderma Pigmentosum Group E (XP5)

Alias:
Xeroderma Pigmentosum, Group E
Xeroderma Pigmentosum, Complementation Group E
Xeroderma Pigmentosum V
Xp Group E
Xpe
Xp5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Xeroderma Pigmentosum Group E, also known as xeroderma pigmentosum, group e, is related to xeroderma pigmentosum, complementation group e and xeroderma pigmentosum, complementation group a. An important gene associated with Xeroderma Pigmentosum Group E is DDB2 (Damage Specific DNA Binding Protein 2), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin and colon, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Increased S length, increased G2 length
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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15
60
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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