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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 1A
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Accession:DOID:0080476 term browser browse the term
Definition:A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: CG1;   CGE;   PBD1A;   peroxisome biogenesis disorder 1A (Zellweger);   peroxisome biogenesis disorder, complementation group 1;   peroxisome biogenesis disorder, complementation group E
 primary_id: MIM:214100
 xref: NCI:C155748


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peroxisome biogenesis disorder 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:11389485 PMID:12032265 More... NCBI chr14:18,043,857...18,054,340
Ensembl chr14:18,043,671...18,052,979 		JBrowse link
G PAF1 PAF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 NCBI chr 1:113,828,219...113,832,747
Ensembl chr 1:113,828,007...113,832,735 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr14:18,073,759...18,144,489
Ensembl chr14:18,073,758...18,143,152 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802 		JBrowse link
G PEX12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:28492532 NCBI chr 9:38,083,895...38,088,192
Ensembl chr 9:38,084,285...38,087,011 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr10:61,113,213...61,130,157
Ensembl chr10:61,123,655...61,193,241 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 2:85,224,376...85,362,684
Ensembl chr 2:85,224,365...85,389,069 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chr18:43,506,531...43,513,735
Ensembl chr18:43,507,193...43,516,235 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 NCBI chr38:21,939,054...21,945,281
Ensembl chr38:21,939,018...21,944,602 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chr29:24,943,563...24,960,834 JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:16257970 PMID:25741868 PMID:28492532 NCBI chr27:45,675,537...45,688,026
Ensembl chr27:45,675,472...45,725,681 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:7562283 PMID:10958759 PMID:10968777 PMID:25741868 NCBI chr 1:34,994,092...35,030,453
Ensembl chr 1:34,994,197...35,023,975 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 NCBI chr27:37,843,218...37,860,664
Ensembl chr27:37,809,717...37,860,376 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 More... NCBI chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929 		JBrowse link
G PUS10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr10:61,033,986...61,105,154
Ensembl chr10:61,035,457...61,104,544 		JBrowse link
G RBM48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chr14:18,116,022...18,123,283
Ensembl chr14:18,115,468...18,123,283 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870 		JBrowse link
G SAMD4B sterile alpha motif domain containing 4B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 NCBI chr 1:113,828,432...113,857,336
Ensembl chr 1:113,828,447...113,857,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15754
    syndrome 10594
      Zellweger syndrome 116
        peroxisome biogenesis disorder 1A 18
Path 2
Term Annotations click to browse term
  disease 15754
    disease of anatomical entity 15375
      nervous system disease 13503
        central nervous system disease 12069
          brain disease 11335
            Metabolic Brain Diseases 1498
              Metabolic Brain Diseases, Inborn 1373
                Zellweger syndrome 116
                  peroxisome biogenesis disorder 1A 18
paths to the root