Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
IMMUNODEFICIENCY 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:75,578,824...75,757,464
Ensembl chr16:75,578,824...75,757,464 		JBrowse link
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:75,908,459...75,937,915
Ensembl chr16:75,920,084...75,937,923 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:71,400,615...71,407,315
Ensembl chr16:71,400,615...71,407,315 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:71,411,847...71,454,225
Ensembl chr16:71,417,039...71,454,225 		JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:76,105,679...76,109,044
Ensembl chr16:76,105,679...76,109,044 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:72,767,864...72,786,193
Ensembl chr16:72,767,627...72,788,229 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:72,807,967...72,840,180
Ensembl chr16:72,807,849...72,840,176 		JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:72,656,929...72,751,696
Ensembl chr16:72,657,019...72,764,071 		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:16199547 PMID:17576681 PMID:24033266 More... NCBI chr16:76,021,968...76,075,717
Ensembl chr16:76,022,008...76,081,911 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:75,787,411...75,868,584
Ensembl chr16:75,787,411...75,866,099 		JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:76,081,903...76,105,174
Ensembl chr16:76,081,864...76,108,180 		JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:72,788,842...72,801,122
Ensembl chr16:72,794,831...72,801,103 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:72,631,638...72,656,893
Ensembl chr16:72,631,638...72,656,469 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:76,163,315...76,253,881
Ensembl chr16:76,162,922...76,253,881 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:76,245,838...76,266,786
Ensembl chr16:76,253,443...76,267,911 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:72,608,096...72,612,690
Ensembl chr16:72,607,305...72,612,690 		JBrowse link
G Vdac3 voltage-dependent anion channel 3 ISO ClinVar Annotator: match by term: Immunodeficiency 15 ClinVar PMID:28492532 NCBI chr16:76,137,489...76,153,933
Ensembl chr16:76,137,504...76,155,304 		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
ISS 		ClinVar Annotator: match by term: Immunodeficiency 15a
OMIM:618204 		OMIM
ClinVar
MouseDO		 PMID:24033266 PMID:25216719 PMID:25741868 PMID:28492532 PMID:30337470 NCBI chr16:76,021,968...76,075,717
Ensembl chr16:76,022,008...76,081,911 		JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:75,578,824...75,757,464
Ensembl chr16:75,578,824...75,757,464 		JBrowse link
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:75,908,459...75,937,915
Ensembl chr16:75,920,084...75,937,923 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:71,400,615...71,407,315
Ensembl chr16:71,400,615...71,407,315 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:71,411,847...71,454,225
Ensembl chr16:71,417,039...71,454,225 		JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:76,105,679...76,109,044
Ensembl chr16:76,105,679...76,109,044 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:72,767,864...72,786,193
Ensembl chr16:72,767,627...72,788,229 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:72,807,967...72,840,180
Ensembl chr16:72,807,849...72,840,176 		JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:72,656,929...72,751,696
Ensembl chr16:72,657,019...72,764,071 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B OMIM
ClinVar		 PMID:9536098 PMID:10195897 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr16:76,021,968...76,075,717
Ensembl chr16:76,022,008...76,081,911 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:75,787,411...75,868,584
Ensembl chr16:75,787,411...75,866,099 		JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:76,081,903...76,105,174
Ensembl chr16:76,081,864...76,108,180 		JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:72,788,842...72,801,122
Ensembl chr16:72,794,831...72,801,103 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:72,631,638...72,656,893
Ensembl chr16:72,631,638...72,656,469 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:76,163,315...76,253,881
Ensembl chr16:76,162,922...76,253,881 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:76,245,838...76,266,786
Ensembl chr16:76,253,443...76,267,911 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:72,608,096...72,612,690
Ensembl chr16:72,607,305...72,612,690 		JBrowse link
G Vdac3 voltage-dependent anion channel 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:76,137,489...76,153,933
Ensembl chr16:76,137,504...76,155,304 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        IMMUNODEFICIENCY 15 18
          immunodeficiency 15A 1
          immunodeficiency 15B 18
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Immune & Inflammatory Diseases 5781
        immune system disease 5094
          primary immunodeficiency disease 4502
            IMMUNODEFICIENCY 15 18
              immunodeficiency 15A 1
              immunodeficiency 15B 18
paths to the root