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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 39
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Accession:DOID:0111969 term browser browse the term
Definition:A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in IRF7 on chromosome 11p15.5. (DO)
Synonyms:exact_synonym: IMD39
 primary_id: OMIM:616345
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,534,217...214,607,497
Ensembl chr 1:214,534,284...214,606,169
JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,918,757...214,940,883
Ensembl chr 1:214,927,172...214,947,624
JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,446,659...214,450,668
Ensembl chr 1:214,009,784...214,013,765
Ensembl chr 1:214,009,784...214,013,765
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,255,118...214,263,848
Ensembl chr 1:214,255,110...214,263,581
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,407,072...214,410,069
Ensembl chr 1:214,408,100...214,408,549
JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,476,418...214,511,569
Ensembl chr 1:214,476,387...214,511,529
JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,439,810...214,445,876
Ensembl chr 1:214,440,503...214,445,874
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:215,030,429...215,043,111
Ensembl chr 1:215,030,429...215,033,460
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
JBrowse link
G Gatd1 glutamine amidotransferase like class 1 domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,389,006...214,394,451
Ensembl chr 1:214,389,255...214,394,411
JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:215,521,604...215,538,283
Ensembl chr 1:215,515,764...215,536,980
JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar
OMIM
PMID:25814066 PMID:28492532 NCBI chr 1:214,249,388...214,252,909
Ensembl chr 1:214,248,837...214,252,456
JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:215,126,994...215,127,583 JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:215,628,750...215,662,505
Ensembl chr 1:215,628,785...215,662,504
JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,953,992...214,962,106
Ensembl chr 1:214,954,553...214,971,929
JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:215,701,544...215,709,313
Ensembl chr 1:215,701,544...215,709,313
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938
JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,418,751...214,423,959
Ensembl chr 1:214,419,240...214,423,881
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,434,638...214,439,720
Ensembl chr 1:214,434,626...214,439,720
JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,451,966...214,453,974 JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,428,280...214,430,551
Ensembl chr 1:214,428,526...214,430,515
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:215,605,408...215,607,602
Ensembl chr 1:215,605,404...215,607,696
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,317,300...214,326,293
Ensembl chr 1:214,317,682...214,326,294
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,823,993...214,844,861
Ensembl chr 1:214,823,978...214,844,858
JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Immunodeficiency 39 ClinVar PMID:28492532 NCBI chr 1:214,454,090...214,473,789
Ensembl chr 1:214,454,090...214,473,741
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      primary immunodeficiency disease 2364
        immunodeficiency 39 40
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                immunodeficiency 39 40
paths to the root