Peroxisome Biogenesis Disorder 12a (PBD12A)

Alias:
Pbd12a
Peroxisome Biogenesis Disorder, Complementation Group 14
Peroxisome Biogenesis Disorder Complementation Group 14
Peroxisome Biogenesis Disorder Complementation Group J
Peroxisome Biogenesis Disorder, Type 12a
Pbd-Cg14
Pbd-Cgj
Cg14
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peroxisome Biogenesis Disorder 12a, is also known as pbd12a. An important gene associated with Peroxisome Biogenesis Disorder 12a is PEX19 (Peroxisomal Biogenesis Factor 19). Affiliated tissues include liver and eye, and related phenotypes are seizure and hypotonia
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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
7

Medical Symptom

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

Gene & Mutation

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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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