Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:T cell deficiency
go back to main search page
Accession:DOID:11200 term browser browse the term
Definition:A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. (DO)
Synonyms:exact_synonym: T-cell Immunodeficiency;   T-lymphocyte deficiency;   T-lymphocyte immunodeficiency
 alt_id: DOID:613
 xref: NCI:C27145;   NCI:C27872
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
T cell deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO ClinVar Annotator: match by term: T-lymphocyte deficiency ClinVar PMID:10206641 PMID:15180707 PMID:28492532 PMID:31447097 PMID:31566583 NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
JBrowse link
immunodeficiency 11B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card11 caspase recruitment domain family, member 11 ISO ClinVar Annotator: match by term: ATOPIC DERMATITIS, ELEVATED IgE, AND EOSINOPHILIA | ClinVar Annotator: match by term: Immunodeficiency 11b with atopic dermatitis OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23129749 PMID:23374270 More... NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
JBrowse link
immunodeficiency 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Immunodeficiency 13 | ClinVar Annotator: match by term: UNC119-related condition OMIM
ClinVar
PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339
JBrowse link
immunodeficiency 17 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 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559
JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient | ClinVar Annotator: match by term: Immunodeficiency due to defect in CD3-gamma
OMIM
CTD
ClinVar
PMID:1635567 PMID:1709425 PMID:8490660 PMID:9536098 PMID:14602880 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203
JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522
JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 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 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:28492532 NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568
JBrowse link
immunodeficiency 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy10 adenylate cyclase 10 ISO ClinVar Annotator: match by term: Immunodeficiency 25 ClinVar PMID:28492532 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Cd247 Cd247 molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 25
OMIM
CTD
ClinVar
PMID:9536098 PMID:16672702 PMID:17170122 PMID:17576681 PMID:25741868 More... NCBI chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263
JBrowse link
G Creg1 cellular repressor of E1A-stimulated genes 1 ISO ClinVar Annotator: match by term: Immunodeficiency 25 ClinVar PMID:28492532 NCBI chr13:78,019,814...78,032,310
Ensembl chr13:78,019,843...78,032,308
JBrowse link
G Dcaf6 DDB1 and CUL4 associated factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 25 ClinVar PMID:28492532 NCBI chr13:77,626,257...77,727,645
Ensembl chr13:77,626,307...77,727,512
JBrowse link
G Gpr161 G protein-coupled receptor 161 ISO ClinVar Annotator: match by term: Immunodeficiency 25 ClinVar PMID:28492532 NCBI chr13:77,578,257...77,623,661
Ensembl chr13:77,577,739...77,619,613
JBrowse link
G Mpc2 mitochondrial pyruvate carrier 2 ISO ClinVar Annotator: match by term: Immunodeficiency 25 ClinVar PMID:28492532 NCBI chr13:77,728,176...77,747,664
Ensembl chr13:77,728,250...77,747,664
JBrowse link
G Mpzl1 myelin protein zero-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 25 ClinVar PMID:28492532 NCBI chr13:77,852,467...77,889,305
Ensembl chr13:77,852,467...77,896,616
JBrowse link
G Rcsd1 RCSD domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 25 ClinVar PMID:28492532 NCBI chr13:77,901,898...77,964,309
Ensembl chr13:77,901,898...77,966,228
JBrowse link
G Sft2d2 SFT2 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 25 ClinVar PMID:28492532 NCBI chr13:77,484,778...77,504,123
Ensembl chr13:77,484,636...77,504,112
JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Immunodeficiency 25 ClinVar PMID:28492532 NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163
JBrowse link
G Tiprl TOR signaling pathway regulator ISO ClinVar Annotator: match by term: Immunodeficiency 25 ClinVar PMID:28492532 NCBI chr13:77,527,176...77,552,026
Ensembl chr13:77,527,176...77,552,074
JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: Immunodeficiency 48 | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8124727 PMID:8202712 PMID:8202713 PMID:9536098 PMID:10574909 More... NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700
JBrowse link
immunodeficiency 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11b BCL11 transcription factor B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BCL11B-related BAFopathy | ClinVar Annotator: match by term: Immunodeficiency 49
OMIM
CTD
ClinVar
PMID:25627829 PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 More... NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
JBrowse link
immunodeficiency 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to LAT deficiency OMIM
ClinVar
PMID:25741868 PMID:27242165 PMID:27522155 PMID:28492532 NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
JBrowse link
immunodeficiency 79 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Immunodeficiency 79 OMIM
ClinVar
PMID:25741868 PMID:31781092 PMID:33471124 NCBI chr 4:157,668,878...157,695,366 JBrowse link
immunodeficiency 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orai1 ORAI calcium release-activated calcium modulator 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7531512 PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 More... NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405
JBrowse link
X-Linked immunodeficiency 74 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr7 toll-like receptor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 74, COVID-19-related, X-linked OMIM
ClinVar
PMID:32706371 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        T cell deficiency 92
          Nezelof syndrome 0
          X-Linked immunodeficiency 74 1
          immunodeficiency 11B 1
          immunodeficiency 13 1
          immunodeficiency 17 72
          immunodeficiency 25 11
          immunodeficiency 48 1
          immunodeficiency 49 1
          immunodeficiency 52 1
          immunodeficiency 7 0
          immunodeficiency 79 1
          immunodeficiency 9 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      Immune & Inflammatory Diseases 5560
        immune system disease 4768
          primary immunodeficiency disease 4141
            T cell deficiency 92
              Nezelof syndrome 0
              X-Linked immunodeficiency 74 1
              immunodeficiency 11B 1
              immunodeficiency 13 1
              immunodeficiency 17 72
              immunodeficiency 25 11
              immunodeficiency 48 1
              immunodeficiency 49 1
              immunodeficiency 52 1
              immunodeficiency 7 0
              immunodeficiency 79 1
              immunodeficiency 9 1
paths to the root