Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 6:93,423,029...93,444,223
Ensembl chr 6:93,423,002...93,444,240
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 2:196,043,546...196,046,320
Ensembl chr 2:196,043,618...196,046,311
JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
OMIM
ClinVar
PMID:8495043, PMID:20159315, PMID:20534754, PMID:21129723, PMID:21852578, PMID:21881205, PMID:21953331, PMID:24033266, PMID:25741868, PMID:26524591, PMID:28492532 NCBI chr20:3,990,809...3,993,772
Ensembl chr20:3,990,613...3,993,769
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 ClinVar
OMIM
PMID:12022327, PMID:25741868, PMID:26524591, PMID:29805043 NCBI chr12:8,746,948...8,759,433
Ensembl chr12:8,746,855...8,759,599
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 ClinVar
OMIM
PMID:21953331, PMID:26524591 NCBI chr 2:196,043,546...196,046,320
Ensembl chr 2:196,043,618...196,046,311
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 ClinVar
OMIM
PMID:26524591 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Proteasome-Associated Autoinflammatory Syndromes 5
        JMP syndrome 3
        PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 1
        PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 2
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            lipid metabolism disorder 900
              lipodystrophy 35
                Proteasome-Associated Autoinflammatory Syndromes 5
                  JMP syndrome 3
                  PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 1
                  PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.