Xeroderma Pigmentosum, Complementation Group F (XPF)

Alias:
Xeroderma Pigmentosum, Group F
Xeroderma Pigmentosum, Type F/cockayne Syndrome
Xeroderma Pigmentosum Vi
Xp6
Xeroderma Pigmentosum Group F
Xp, Group F
Xp Group F
Xpf
Xeroderma Pigmentosum Type F/cockayne Syndrome
Xeroderma Pigmentosum Complementation Group F
Xeroderma Pigmentosum, Type 6
Xpf/cs
Xp-F
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Xeroderma Pigmentosum, Complementation Group F, also known as xeroderma pigmentosum, group f, is related to xfe progeroid syndrome and fanconi anemia, complementation group q. An important gene associated with Xeroderma Pigmentosum, Complementation Group F is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit), and among its related pathways/superpathways are Homology Directed Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin and brain, and related phenotypes are intellectual disability and scoliosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
25
120
37

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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