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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 14
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Accession:DOID:0111936 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in PIK3CD on chromosome 1p36.22. (DO)
Synonyms:exact_synonym: APD Syndrome;   APDS;   APDS (Activated PI3K-delta Syndrome);   IMD14;   PASLI;   PASLI disease;   activated PI3K-delta syndrome;   p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency;   senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
 narrow_synonym: IMD14A;   IMD14B;   autosomal dominant immunodeficiency 14A;   autosomal recessive immunodeficiency 14B
 primary_id: MESH:C585640
 alt_id: OMIM:615513;   OMIM:619281
 xref: GARD:11983;   NCI:C176015;   ORDO:397596
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtrap angiotensin II receptor-associated protein ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036 		JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,932,094...158,937,597
Ensembl chr 5:158,932,794...158,937,324 		JBrowse link
G Car6 carbonic anhydrase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,658,104...160,676,644
Ensembl chr 5:160,658,105...160,676,644 		JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400 		JBrowse link
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,563,917...159,573,534 JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059 		JBrowse link
G Clstn1 calsyntenin 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,031,235...160,094,585
Ensembl chr 5:160,031,308...160,094,583 		JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,560,591...159,562,032 JBrowse link
G Ctnnbip1 catenin, beta-interacting protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,961,961...160,010,942
Ensembl chr 5:159,961,928...160,010,939 		JBrowse link
G Dffa DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,540,718...159,553,639
Ensembl chr 5:159,540,715...159,553,633 		JBrowse link
G Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,672,015...158,720,806
Ensembl chr 5:158,672,015...158,720,806 		JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483 		JBrowse link
G Eno1 enolase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 		JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,995,318...159,018,946
Ensembl chr 5:158,995,313...159,018,940 		JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,592,926...158,598,355
Ensembl chr 5:158,592,925...158,598,355 		JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,583,363...158,592,510
Ensembl chr 5:158,583,366...158,592,363 		JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525 		JBrowse link
G Gpr157 G protein-coupled receptor 157 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,550,703...160,566,432
Ensembl chr 5:160,550,713...160,566,432 		JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G LOC102551309 uncharacterized LOC102551309 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G LOC691354 hypothetical protein LOC691354 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369 		JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:159,920,439...159,939,685 		JBrowse link
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,292,510...158,299,531
Ensembl chr 5:158,292,511...158,299,694 		JBrowse link
G Mir34a microRNA 34a ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16984281 PMID:17576681 PMID:24136356 PMID:24165795 More... NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Rbp7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,889,723...159,894,338
Ensembl chr 5:159,889,723...159,894,339 		JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677 		JBrowse link
G RGD1305350 similar to RIKEN cDNA 2510039O18 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195 		JBrowse link
G Slc25a33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,195,040...160,219,961
Ensembl chr 5:160,195,042...160,219,961 		JBrowse link
G Slc2a5 solute carrier family 2 member 5 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,583,055...160,609,994
Ensembl chr 5:160,583,234...160,611,106 		JBrowse link
G Slc2a7 solute carrier family 2 member 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,624,793...160,643,994
Ensembl chr 5:160,624,793...160,643,514 		JBrowse link
G Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,358,292...160,418,541
Ensembl chr 5:160,358,308...160,418,468 		JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,025,919...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,166,240...160,188,874
Ensembl chr 5:160,166,427...160,188,843 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,766,829...159,870,509
Ensembl chr 5:159,766,829...159,870,509 		JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    syndrome 9625
      primary immunodeficiency disease 3742
        combined immunodeficiency 713
          combined T cell and B cell immunodeficiency 239
            immunodeficiency 14 52
Path 2
Term Annotations click to browse term
  disease 18110
    Developmental Disease 12861
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11545
        genetic disease 11079
          monogenic disease 8550
            autosomal genetic disease 7555
              autosomal dominant disease 5081
                immunodeficiency 14 52
paths to the root