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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 18
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Accession:DOID:0111971 term browser browse the term
Definition:A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3E on chromosome 11q23.3. (DO)
Synonyms:exact_synonym: CD3-epsilon deficiency;   IMD18;   immunodeficiency due to defect in CD3-Epsilon
 related_synonym: immunodeficiency 18, SCID variant;   immunodeficiency 18, severe combined;   immunodeficiency variant
 primary_id: MESH:C566082
 alt_id: OMIM:615615
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
immunodeficiency 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247 		JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611 		JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Immunodeficiency 18
ClinVar Annotator: match by OMIM:615615		 OMIM
ClinVar		 PMID:1370449 PMID:1635567 PMID:1676369 PMID:8490660 PMID:9536098 More... NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022 		JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662 		JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522 		JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389 		JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190 		JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      primary immunodeficiency disease 2723
        immunodeficiency 18 33
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                immunodeficiency 18 33
paths to the root