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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:Proteasome-Associated Autoinflammatory Syndromes
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Accession:DOID:9004752 term browser browse the term
Synonyms:exact_synonym: proteasome-associated autoinflammatory syndrome
 xref: OMIM:PS256040
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
JMP syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psma3 proteasome 20S subunit alpha 3 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chr 6:89,483,741...89,503,775
Ensembl chr 6:89,483,727...89,504,965
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 OMIM
ClinVar
PMID:8495043 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 More... NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomp proteasome maturation protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 2 OMIM
ClinVar
PMID:12022327 PMID:25741868 PMID:26524591 PMID:29805043 NCBI chr12:7,162,098...7,174,737
Ensembl chr12:7,160,714...7,174,715
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 3 OMIM
ClinVar
PMID:21953331 PMID:25741868 PMID:26524591 PMID:28492532 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 3 OMIM
ClinVar
PMID:25741868 PMID:26524591 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4 OMIM
ClinVar
PMID:16199547 PMID:28492532 PMID:30664889 NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5 OMIM
ClinVar
PMID:31783057 NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      Proteasome-Associated Autoinflammatory Syndromes 8
        JMP syndrome 4
        Proteasome-Associated Autoinflammatory Syndrome 2 1
        Proteasome-Associated Autoinflammatory Syndrome 3 2
        Proteasome-Associated Autoinflammatory Syndrome 4 1
        Proteasome-Associated Autoinflammatory Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          inherited metabolic disorder 4659
            lipid metabolism disorder 1149
              lipodystrophy 38
                Proteasome-Associated Autoinflammatory Syndromes 8
                  JMP syndrome 4
                  Proteasome-Associated Autoinflammatory Syndrome 2 1
                  Proteasome-Associated Autoinflammatory Syndrome 3 2
                  Proteasome-Associated Autoinflammatory Syndrome 4 1
                  Proteasome-Associated Autoinflammatory Syndrome 5 1
paths to the root