Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 chrNW_004936803:1,348,238...1,361,566 JBrowse link
G LOC101959362 peroxisomal membrane protein PEX14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004936623:4,313,186...4,462,462
Ensembl chrNW_004936623:4,313,147...4,462,528
Ensembl chrNW_004936623:4,313,147...4,462,528 		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 chrNW_004936661:2,236,121...2,241,086
Ensembl chrNW_004936661:2,232,484...2,241,629 		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 chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936490:1,751...5,094
Ensembl chrNW_004936490:1,527...5,069 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004936491:6,530,385...6,559,706
Ensembl chrNW_004936491:6,529,779...6,562,590 		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 chrNW_004936562:3,103,332...3,109,884
Ensembl chrNW_004936562:3,103,349...3,109,887 		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 chrNW_004936740:351,089...357,657
Ensembl chrNW_004936740:351,045...359,033 		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 chrNW_004936702:1,573,616...1,626,323
Ensembl chrNW_004936702:1,573,650...1,591,004 		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 chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		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 chrNW_004936625:2,657,511...2,694,668
Ensembl chrNW_004936625:2,656,452...2,694,744 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		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 chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004936491:6,439,248...6,530,309
Ensembl chrNW_004936491:6,439,224...6,530,663 		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 chrNW_004936803:1,283,110...1,291,646
Ensembl chrNW_004936803:1,283,077...1,291,674 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004936737:1,152,937...1,164,817
Ensembl chrNW_004936737:1,152,937...1,164,616 		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 chrNW_004936661:2,208,852...2,234,660
Ensembl chrNW_004936661:2,208,827...2,234,010 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14636
    syndrome 9988
      Zellweger syndrome 115
        peroxisome biogenesis disorder 1A 18
Path 2
Term Annotations click to browse term
  disease 14636
    disease of anatomical entity 14326
      nervous system disease 12611
        central nervous system disease 11271
          brain disease 10580
            Metabolic Brain Diseases 1423
              Metabolic Brain Diseases, Inborn 1305
                Zellweger syndrome 115
                  peroxisome biogenesis disorder 1A 18
paths to the root