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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 35
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Accession:DOID:0111989 term browser browse the term
Definition:A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. (DO)
Synonyms:exact_synonym: Hyper-IgE Syndrome with Atypical Mycobacteriosis, Autosomal Recessive;   IMD35;   TYK2 Deficiency;   autosomal recessiv HIES with atypical mycobacteriosis;   autosomal recessive HIES with atypical mycobacteriosis;   susceptibility to infection due to TYK2 deficiency;   tyrosine kinase 2 deficiency
 primary_id: MESH:C566928
 alt_id: MIM:611521
 xref: ORDO:331226


show annotations for term's descendants           Sort by:
immunodeficiency 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1m2 adaptor related protein complex 1 subunit mu 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,838,579...19,856,560
Ensembl chr 8:19,838,580...19,856,482 		JBrowse link
G Atg4d autophagy related 4D, cysteine peptidase ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,807,733...19,817,321
Ensembl chr 8:19,807,766...19,817,321 		JBrowse link
G Cdc37 cell division cycle 37, HSP90 cochaperone ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,677,400...19,690,761
Ensembl chr 8:19,671,938...19,690,809 		JBrowse link
G Cdkn2d cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:28,108,036...28,110,809
Ensembl chr 8:19,831,866...19,834,674 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Icam4 intercellular adhesion molecule 4, Landsteiner-Wiener blood group ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,566,075...19,567,171
Ensembl chr 8:19,566,075...19,567,171 		JBrowse link
G Icam5 intercellular adhesion molecule 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,567,390...19,575,588
Ensembl chr 8:19,568,600...19,575,588 		JBrowse link
G Ilf3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,922,409...19,960,495
Ensembl chr 8:19,922,460...19,960,350 		JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Kri1 KRI1 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,817,005...19,831,516
Ensembl chr 8:19,817,017...19,831,392 		JBrowse link
G Mrpl4 mitochondrial ribosomal protein L4 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,539,593...19,545,608
Ensembl chr 8:19,539,593...19,545,608 		JBrowse link
G Pde4a phosphodiesterase 4A ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,690,816...19,753,538
Ensembl chr 8:19,703,290...19,751,961 		JBrowse link
G Qtrt1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,965,801...19,973,843
Ensembl chr 8:19,966,336...19,973,837 		JBrowse link
G Raver1 ribonucleoprotein, PTB-binding 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,610,464...19,629,188
Ensembl chr 8:19,610,466...19,629,152 		JBrowse link
G S1pr2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574 		JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,786,676...19,791,862
Ensembl chr 8:19,786,663...19,791,795 		JBrowse link
G Slc44a2 solute carrier family 44 member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,870,867...19,905,345
Ensembl chr 8:19,870,888...19,905,342 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More... NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044 		JBrowse link
G Zglp1 zinc finger, GATA-like protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,599,871...19,604,762
Ensembl chr 8:19,599,998...19,604,547 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    syndrome 11406
      primary immunodeficiency disease 4483
        immunodeficiency 35 22
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      Immune & Inflammatory Diseases 5759
        immune system disease 5077
          primary immunodeficiency disease 4483
            B cell deficiency 449
              selective immunoglobulin deficiency disease 73
                dysgammaglobulinemia 73
                  hyperimmunoglobulin syndrome 65
                    hyper IgE syndrome 40
                      immunodeficiency 35 22
paths to the root