RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: peroxisome biogenesis disorder 12A
Accession: DOID:0080486
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Definition: A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23. (DO)
Synonyms: exact_synonym: PBD12A; peroxisome biogenesis disorder 12A (Zellweger)
primary_id: OMIM:614886
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Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger)
ClinVar
PMID:28492532
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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Atp1a4
ATPase Na+/K+ transporting subunit alpha 4
ISO
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger)
ClinVar
PMID:28492532
NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687
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Casq1
calsequestrin 1
ISO
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger)
ClinVar
PMID:28492532
NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
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Copa
COPI coat complex subunit alpha
ISO
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger)
ClinVar
PMID:28492532
NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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Dcaf8
DDB1 and CUL4 associated factor 8
ISO
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger)
ClinVar
PMID:28492532
NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726
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Ncstn
nicastrin
ISO
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger)
ClinVar
PMID:28492532
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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Pea15
proliferation and apoptosis adaptor protein 15
ISO
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger)
ClinVar
PMID:28492532
NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499
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Pex19
peroxisomal biogenesis factor 19
ISO
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10051604 PMID:16199547 PMID:17576681 PMID:20683989 PMID:21031596 PMID:25741868 PMID:28281558 PMID:28492532 PMID:30561787 PMID:33798445 More...
NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
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