Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:plasma protein metabolism disease
go back to main search page
Accession:DOID:2345 term browser browse the term
Definition:An inherited metabolic disorder that involves plasma protein metabolism malfunction. (DO)
Synonyms:primary_id: RDO:9003877
 xref: ICD9CM:273.8
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
alpha 1-antitrypsin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina1 serpin family A member 1 treatment ISO ClinVar Annotator: match by OMIM:613490
ClinVar Annotator: match by term: Alpha-1 Antitrypsin Deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN)
DNA:polymorphisms:cds:
ClinVar Annotator: match by term: PI M(NICHINAN)
ClinVar Annotator: match by term: PI Q0(CARDIFF)
ClinVar Annotator: match by term: AAT deficiency
ClinVar Annotator: match by term: PI Q0(BELLINGHAM)
ClinVar Annotator: match by term: PI M(HEERLEN)
ClinVar Annotator: match by term: PI Q0(GRANITE FALLS)
OMIM
ClinVar
CTD
RGD
PMID:301355 PMID:412531 PMID:1082356 PMID:1504305 PMID:1552539 More... RGD:14695047, RGD:14695049 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
carboxypeptidase N deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpn1 carboxypeptidase N subunit 1 ISO ClinVar Annotator: match by term: CARBOXYPEPTIDASE N DEFICIENCY
ClinVar Annotator: match by OMIM:212070
OMIM
ClinVar
PMID:7437116 PMID:12560874 PMID:24033266 NCBI chr 1:242,844,575...242,873,465
Ensembl chr 1:242,844,212...242,873,465
JBrowse link
Waldenstroem's macroglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO DNA:mutation:cds:1013C>G(p.S338X)(human) RGD PMID:24711662 RGD:11352304 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa disease_progression
treatment
ISO DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD PMID:21564078 PMID:15659493 RGD:11040774, RGD:11352262 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs: :multiple RGD PMID:19573080 RGD:11049165 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il6 interleukin 6 no_association ISO DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
DNA:SNPs: :multiple
RGD PMID:19573080 PMID:19573080 RGD:11049165, RGD:11049165 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:23355206 RGD:11530052 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Macroglobulinemia, waldenstrom, somatic
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:21179087 PMID:22931316 PMID:23215570 PMID:26619011 PMID:28492532 More... NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Nutritional and Metabolic Diseases 5551
      disease of metabolism 5551
        inherited metabolic disorder 2636
          plasma protein metabolism disease 8
            alpha 1-antitrypsin deficiency 1
            carboxypeptidase N deficiency 1
            macroglobulinemia + 6
            monoclonal paraproteinemia 0
            polyclonal hypergammaglobulinemia 0
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          inherited metabolic disorder 2636
            plasma protein metabolism disease 8
              alpha 1-antitrypsin deficiency 1
              carboxypeptidase N deficiency 1
              macroglobulinemia + 6
              monoclonal paraproteinemia 0
              polyclonal hypergammaglobulinemia 0
paths to the root