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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 15
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Accession:DOID:9008991 term browser browse the term
Definition:Autosomal recessive or dominant syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
For additional species annotation, visit the Alliance of Genome Resources.


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IMMUNODEFICIENCY 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:74,075,842...74,091,230
Ensembl chr16:74,076,812...74,091,139
JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:68,860,018...68,866,718
Ensembl chr16:68,860,018...68,866,718
JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:68,876,442...68,913,628
Ensembl chr16:68,875,709...68,913,628
JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:74,260,551...74,264,142
Ensembl chr16:74,260,551...74,264,142
JBrowse link
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:70,876,557...70,909,443 JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:70,710,347...70,818,789 JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:9536098 PMID:10195897 PMID:17576681 PMID:24033266 PMID:24369075 PMID:24679846 PMID:25139357 PMID:25216719 PMID:25741868 PMID:26122175 PMID:28492532 PMID:30335863 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:74,237,001...74,260,272
Ensembl chr16:74,237,001...74,260,271
JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:74,408,085...74,422,070
Ensembl chr16:74,408,183...74,422,215
JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831
JBrowse link
G Vdac3 voltage-dependent anion channel 3 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:74,292,466...74,308,910
Ensembl chr16:74,292,438...74,308,903
JBrowse link
immunodeficiency 15A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Immunodeficiency 15a
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15A
OMIM
ClinVar
PMID:25741868 PMID:30337470 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO OMIM NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    syndrome 8040
      primary immunodeficiency disease 2698
        IMMUNODEFICIENCY 15 17
          immunodeficiency 15A 1
          immunodeficiency 15B 1
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      Immune & Inflammatory Diseases 3891
        immune system disease 3257
          primary immunodeficiency disease 2698
            IMMUNODEFICIENCY 15 17
              immunodeficiency 15A 1
              immunodeficiency 15B 1
paths to the root