Peroxisome Biogenesis Disorder 7a (PBD7A)

Alias:
Pbd7a
Peroxisome Biogenesis Disorder Complementation Group 8
Peroxisome Biogenesis Disorder Complementation Group a
Peroxisome Biogenesis Disorder, Type 7a
Pbd-Cg8
Pbd-Cga
Cg8
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peroxisome Biogenesis Disorder 7a, also known as pbd7a, is related to peroxisome biogenesis disorder 7b and usher syndrome, and has symptoms including icterus An important gene associated with Peroxisome Biogenesis Disorder 7a is PEX26 (Peroxisomal Biogenesis Factor 26). Affiliated tissues include liver and eye, and related phenotypes are nystagmus and high palate
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
3
14

Medical Symptom

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

Gene & Mutation

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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
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IF
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