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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:immunodeficiency 31B
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Accession:DOID:0111944 term browser browse the term
Definition:A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)
Synonyms:exact_synonym: IMD31B;   IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE;   STAT1 deficiency, autosomal recessive;   predisposition to severe viral infection due to STAT1 deficiency;   susceptibility to viral and mycobacterial infections due to STAT1 deficiency
 related_synonym: MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE
 primary_id: OMIM:613796
 xref: ORDO:391311



show annotations for term's descendants           Sort by:
immunodeficiency 31B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankar ankyrin and armadillo repeat containing ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,141,534...48,215,400
Ensembl chr 9:48,141,391...48,215,616
JBrowse link
G Asnsd1 asparagine synthetase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,126,808...48,139,073
Ensembl chr 9:48,126,808...48,139,073
JBrowse link
G C9h2orf88 similar to human chromosome 2 open reading frame 88 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,539,140...48,584,882
Ensembl chr 9:48,568,409...48,584,831
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154
JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824
JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,688,037...48,717,793
Ensembl chr 9:48,669,901...48,717,793
JBrowse link
G Mfsd6 major facilitator superfamily domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,773,171...48,858,471
Ensembl chr 9:48,773,414...48,858,465
JBrowse link
G Mstn myostatin ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933
JBrowse link
G Nab1 Ngfi-A binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:49,053,579...49,093,078
Ensembl chr 9:49,053,758...49,092,098
JBrowse link
G Nemp2 nuclear envelope integral membrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,861,252...48,880,565
Ensembl chr 9:48,861,252...48,880,512
JBrowse link
G Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,243,365...48,253,316
Ensembl chr 9:48,237,572...48,253,211
JBrowse link
G Osgepl1 O-sialoglycoprotein endopeptidase-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,214,995...48,229,440
Ensembl chr 9:48,215,402...48,229,388
JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,229,403...48,340,237
Ensembl chr 9:48,253,410...48,340,237
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive
OMIM
CTD
ClinVar
PMID:9536098 PMID:12590259 PMID:16199547 PMID:16585605 PMID:17576681 More... NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:22651901 PMID:28492532 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 9:47,903,214...47,933,399
Ensembl chr 9:47,903,200...47,933,399
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    disease by infectious agent 2212
      viral infectious disease 1677
        immunodeficiency 31B 19
Path 2
Term Annotations click to browse term
  disease 21121
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18299
        genetic disease 18243
          monogenic disease 10326
            autosomal genetic disease 9476
              autosomal recessive disease 6551
                immunodeficiency 31B 19
paths to the root