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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 the CD3E gene 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: MIM:615615


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 Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:44,184,485...44,199,953
Ensembl chr 9:44,184,485...44,199,912 		JBrowse link
G Apoa1 apolipoprotein A-I ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G Apoa4 apolipoprotein A-IV ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757 		JBrowse link
G Apoc3 apolipoprotein C-III ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,653,440...44,679,105
Ensembl chr 9:44,652,861...44,679,142 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:42,875,138...43,017,069
Ensembl chr 9:42,875,138...43,018,534 		JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,824,546...44,832,470
Ensembl chr 9:44,823,855...44,832,040 		JBrowse link
G Bace1 beta-site APP cleaving enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,749,878...45,775,694
Ensembl chr 9:45,749,878...45,775,697 		JBrowse link
G Bcl9l B cell CLL/lymphoma 9-like ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,394,103...44,423,203
Ensembl chr 9:44,394,122...44,423,193 		JBrowse link
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		JBrowse link
G C2cd2l C2 calcium-dependent domain containing 2-like ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:44,220,534...44,231,579
Ensembl chr 9:44,220,534...44,231,582 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:44,151,961...44,158,240
Ensembl chr 9:44,151,973...44,158,603 		JBrowse link
G Cd3d CD3 antigen, delta polypeptide ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,893,067...44,898,350
Ensembl chr 9:44,893,084...44,898,637 		JBrowse link
G Cd3e CD3 antigen, epsilon polypeptide ISO ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar Annotator: match by term: Immunodeficiency 18, scid variant OMIM
ClinVar		 PMID:1370449 PMID:1635567 PMID:1676369 PMID:8490660 PMID:9536098 More... NCBI chr 9:44,910,033...44,920,961
Ensembl chr 9:44,910,038...44,920,925 		JBrowse link
G Cd3g CD3 antigen, gamma polypeptide ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,880,870...44,891,729
Ensembl chr 9:44,880,870...44,891,729 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,321,456...44,329,390
Ensembl chr 9:44,321,456...44,329,866 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,678,244...45,739,984
Ensembl chr 9:45,678,244...45,739,989 		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:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,423,084...44,437,741
Ensembl chr 9:44,423,084...44,473,174 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,514,113...44,552,028
Ensembl chr 9:44,516,189...44,552,028 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,237,314...44,247,374
Ensembl chr 9:44,237,316...44,245,197 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,338,735...45,665,011
Ensembl chr 9:45,337,926...45,665,010 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,345,531...44,352,165
Ensembl chr 9:44,345,070...44,352,433 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,311,007...45,321,576
Ensembl chr 9:45,310,967...45,321,576 		JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,280,768...45,307,457
Ensembl chr 9:45,281,483...45,307,457 		JBrowse link
G Grik4 glutamate receptor, ionotropic, kainate 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:42,431,708...42,856,296
Ensembl chr 9:42,429,431...42,855,789 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:44,201,509...44,217,003
Ensembl chr 9:44,203,737...44,216,968 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,290,840...44,303,662
Ensembl chr 9:44,290,787...44,303,666 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,683,074...44,704,011
Ensembl chr 9:44,679,205...44,704,744 		JBrowse link
G Il10ra interleukin 10 receptor, alpha ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,165,135...45,180,447
Ensembl chr 9:45,165,135...45,180,447 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,990,451...45,019,829
Ensembl chr 9:44,990,481...45,019,832 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:44,045,958...44,054,024
Ensembl chr 9:44,045,766...44,054,024 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,951,595...44,965,341
Ensembl chr 9:44,951,097...44,965,313 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,966,479...44,988,735
Ensembl chr 9:44,966,484...44,988,734 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:44,158,609...44,162,761
Ensembl chr 9:44,158,604...44,162,768 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:44,164,010...44,179,896
Ensembl chr 9:44,164,014...44,179,896 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:43,132,575...43,151,113
Ensembl chr 9:43,132,532...43,151,208 		JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase, isoform 1b, subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,876,609...45,923,988
Ensembl chr 9:45,874,157...45,923,988 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,817,745...45,843,405
Ensembl chr 9:45,817,795...45,841,024 		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:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,597,605...44,649,800
Ensembl chr 9:44,597,601...44,646,495 		JBrowse link
G Pou2f3 POU domain, class 2, transcription factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:43,035,222...43,117,052
Ensembl chr 9:43,035,234...43,121,666 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,768,067...45,818,209
Ensembl chr 9:45,774,723...45,818,209 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:44,022,078...44,024,348
Ensembl chr 9:44,006,928...44,024,814
Ensembl chr 9:44,006,928...44,024,814 		JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,319,011...44,321,703
Ensembl chr 9:44,318,436...44,321,724 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:42,162,888...42,175,607
Ensembl chr 9:42,162,891...42,175,552 		JBrowse link
G Scn2b sodium channel, voltage-gated, type II, beta ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,029,174...45,041,368
Ensembl chr 9:45,029,080...45,041,368 		JBrowse link
G Scn4b sodium channel, type IV, beta ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,049,922...45,065,453
Ensembl chr 9:45,049,693...45,065,450 		JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,849,155...45,869,299
Ensembl chr 9:45,849,155...45,866,556 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,924,099...46,135,492
Ensembl chr 9:45,924,118...46,135,492 		JBrowse link
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,308,243...44,314,263
Ensembl chr 9:44,308,149...44,314,265 		JBrowse link
G Sorl1 sortilin-related receptor, LDLR class A repeats-containing ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:41,876,005...42,035,593
Ensembl chr 9:41,876,016...42,035,593 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,840,926...45,847,356
Ensembl chr 9:45,840,917...45,847,356 		JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:42,323,612...42,383,534
Ensembl chr 9:42,323,612...42,419,105 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Thy1 thymus cell antigen 1, theta ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:43,954,681...43,959,876
Ensembl chr 9:43,954,681...43,959,876 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:43,019,945...43,028,000
Ensembl chr 9:43,019,945...43,027,865 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,705,069...44,710,821
Ensembl chr 9:44,705,066...44,710,604 		JBrowse link
G Tmprss13 transmembrane protease, serine 13 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:45,230,286...45,258,879
Ensembl chr 9:45,230,398...45,258,879 		JBrowse link
G Tmprss4 transmembrane protease, serine 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,084,024...45,115,417
Ensembl chr 9:45,084,024...45,115,390 		JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,315,057...44,318,629
Ensembl chr 9:44,314,995...44,318,897 		JBrowse link
G Treh trehalase (brush-border membrane glycoprotein) ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,584,530...44,597,602
Ensembl chr 9:44,584,530...44,597,602 		JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:43,222,012...43,247,422
Ensembl chr 9:43,222,145...43,247,412 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,710,697...44,714,248
Ensembl chr 9:44,710,694...44,714,369 		JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,834,425...44,877,021
Ensembl chr 9:44,834,425...44,876,898 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,364,012...44,366,064
Ensembl chr 9:44,364,012...44,366,273 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chr 9:43,978,318...44,006,924
Ensembl chr 9:43,978,318...44,006,924 		JBrowse link
G Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,259,046...44,272,970
Ensembl chr 9:44,259,046...44,272,967 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16230
    syndrome 10771
      primary immunodeficiency disease 4024
        immunodeficiency 18 72
Path 2
Term Annotations click to browse term
  disease 16230
    Developmental Disease 14004
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13025
        genetic disease 12715
          monogenic disease 10813
            autosomal genetic disease 10322
              autosomal recessive disease 6962
                immunodeficiency 18 72
paths to the root