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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:T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations
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Accession:DOID:9000240 term browser browse the term
Synonyms:exact_synonym: MST1 DEFICIENCY;   STK4 DEFICIENCY;   TIIAC
 primary_id: OMIM:614868


show annotations for term's descendants           Sort by:
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acot8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,634,688...164,662,132
Ensembl chr 2:164,634,685...164,646,802 		JBrowse link
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Ccn5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,662,724...163,675,066
Ensembl chr 2:163,662,781...163,675,066 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,674,792...164,682,952
Ensembl chr 2:164,674,793...164,682,952 		JBrowse link
G Dbndd2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,309,073...164,335,243
Ensembl chr 2:164,328,026...164,335,239 		JBrowse link
G Dnttip1 deoxynucleotidyltransferase, terminal, interacting protein 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,587,935...164,610,140
Ensembl chr 2:164,587,903...164,610,527 		JBrowse link
G Eppin epididymal peptidase inhibitor ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,430,263...164,435,491
Ensembl chr 2:164,430,263...164,435,514 		JBrowse link
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,310,623...163,314,549
Ensembl chr 2:163,308,299...163,314,549 		JBrowse link
G Gdap1l1 ganglioside-induced differentiation-associated protein 1-like 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,280,387...163,297,264
Ensembl chr 2:163,280,396...163,297,244 		JBrowse link
G Gtsf1l gametocyte specific factor 1-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:162,928,956...162,931,529
Ensembl chr 2:162,928,954...162,929,775 		JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830 		JBrowse link
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:162,859,200...162,888,075
Ensembl chr 2:162,859,274...162,888,061 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,178,162...163,239,969
Ensembl chr 2:163,178,162...163,239,913 		JBrowse link
G Kcnk15 potassium channel, subfamily K, member 15 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,695,670...163,700,794
Ensembl chr 2:163,695,571...163,701,666 		JBrowse link
G Kcns1 K+ voltage-gated channel, subfamily S, 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,005,539...164,013,865
Ensembl chr 2:164,005,539...164,013,033 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,231,313...164,247,080
Ensembl chr 2:164,231,313...164,247,080 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mybl2 myeloblastosis oncogene-like 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:162,896,246...162,926,608
Ensembl chr 2:162,896,607...162,926,608 		JBrowse link
G Neurl2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,672,650...164,675,516
Ensembl chr 2:164,672,652...164,675,376 		JBrowse link
G Oser1 oxidative stress responsive serine rich 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,247,742...163,266,422
Ensembl chr 2:163,247,742...163,266,617 		JBrowse link
G Pabpc1l poly(A) binding protein, cytoplasmic 1-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,866,685...163,892,458
Ensembl chr 2:163,867,370...163,892,458 		JBrowse link
G Pcif1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,721,288...164,733,360
Ensembl chr 2:164,721,224...164,736,374 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221 		JBrowse link
G Pkig protein kinase inhibitor, gamma ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,500,306...163,568,078
Ensembl chr 2:163,500,306...163,568,078 		JBrowse link
G Pltp phospholipid transfer protein ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,681,441...164,699,564
Ensembl chr 2:164,681,438...164,699,631 		JBrowse link
G R3hdml R3H domain containing-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,333,364...163,344,532
Ensembl chr 2:163,334,238...163,344,532 		JBrowse link
G Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,244,996...164,257,368
Ensembl chr 2:164,245,061...164,257,368 		JBrowse link
G Rims4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,701,676...163,760,893
Ensembl chr 2:163,701,671...163,760,603 		JBrowse link
G Sdc4 syndecan 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,266,167...164,285,512
Ensembl chr 2:164,266,167...164,285,807 		JBrowse link
G Semg1 semenogelin 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,077,849...164,080,261
Ensembl chr 2:164,077,849...164,080,386 		JBrowse link
G Serinc3 serine incorporator 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,466,577...163,487,767
Ensembl chr 2:163,465,192...163,487,051 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,195,990...164,231,086
Ensembl chr 2:164,195,990...164,231,015 		JBrowse link
G Snx21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,627,535...164,635,730
Ensembl chr 2:164,627,743...164,635,736 		JBrowse link
G Spata25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,669,302...164,670,454
Ensembl chr 2:164,668,309...164,670,457 		JBrowse link
G Spint3 serine peptidase inhibitor, Kunitz type, 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,411,641...164,415,355
Ensembl chr 2:164,411,615...164,415,379 		JBrowse link
G Spint4 serine protease inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,540,421...164,544,368
Ensembl chr 2:164,540,421...164,544,373 		JBrowse link
G Stk4 serine/threonine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MST1 DEFICIENCY | ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22174160 PMID:22294732 More... NCBI chr 2:163,916,033...163,997,444
Ensembl chr 2:163,912,242...163,997,444 		JBrowse link
G Sys1 SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,297,736...164,322,141
Ensembl chr 2:164,298,884...164,321,558 		JBrowse link
G Tnnc2 troponin C2, fast ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,619,081...164,621,654
Ensembl chr 2:164,619,081...164,621,887 		JBrowse link
G Tomm34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,895,458...163,913,168
Ensembl chr 2:163,895,460...163,913,089 		JBrowse link
G Tox2 TOX high mobility group box family member 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,045,047...163,166,092
Ensembl chr 2:163,045,045...163,166,090 		JBrowse link
G Trp53tg5 transformation related protein 53 target 5 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,308,303...164,315,787
Ensembl chr 2:164,312,221...164,315,644 		JBrowse link
G Ttpal tocopherol (alpha) transfer protein-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,444,206...163,460,933
Ensembl chr 2:163,444,234...163,460,933 		JBrowse link
G Ube2c ubiquitin-conjugating enzyme E2C ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,611,849...164,614,822
Ensembl chr 2:164,611,818...164,620,742 		JBrowse link
G Wfdc10 WAP four-disulfide core domain 10 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,497,966...164,499,288
Ensembl chr 2:164,497,966...164,499,288 		JBrowse link
G Wfdc11 WAP four-disulfide core domain 11 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,504,814...164,516,011
Ensembl chr 2:164,504,814...164,516,007 		JBrowse link
G Wfdc12 WAP four-disulfide core domain 12 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,031,151...164,032,528
Ensembl chr 2:164,031,151...164,032,528 		JBrowse link
G Wfdc13 WAP four-disulfide core domain 13 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,527,027...164,529,626
Ensembl chr 2:164,527,027...164,529,626 		JBrowse link
G Wfdc2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,404,635...164,410,430
Ensembl chr 2:164,404,333...164,410,430 		JBrowse link
G Wfdc3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,573,222...164,587,914
Ensembl chr 2:164,573,100...164,587,851 		JBrowse link
G Wfdc5 WAP four-disulfide core domain 5 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,018,245...164,024,662
Ensembl chr 2:164,018,247...164,024,662 		JBrowse link
G Wfdc6a WAP four-disulfide core domain 6A ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,421,439...164,427,704
Ensembl chr 2:164,421,439...164,427,367 		JBrowse link
G Wfdc8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,438,378...164,455,545
Ensembl chr 2:164,438,378...164,455,546 		JBrowse link
G Wfdc9 WAP four-disulfide core domain 9 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,491,547...164,499,263
Ensembl chr 2:164,491,551...164,498,503 		JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,837,082...163,860,508
Ensembl chr 2:163,836,880...163,860,508 		JBrowse link
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,733,802...164,756,034
Ensembl chr 2:164,733,802...164,753,677 		JBrowse link
G Zswim1 zinc finger SWIM-type containing 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,664,933...164,668,791
Ensembl chr 2:164,664,606...164,668,791 		JBrowse link
G Zswim3 zinc finger SWIM-type containing 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,647,034...164,664,047
Ensembl chr 2:164,647,018...164,664,050 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    syndrome 10388
      primary immunodeficiency disease 3861
        combined immunodeficiency 899
          severe combined immunodeficiency 483
            T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 58
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      Immune & Inflammatory Diseases 5180
        immune system disease 4472
          primary immunodeficiency disease 3861
            combined immunodeficiency 899
              severe combined immunodeficiency 483
                T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 58
paths to the root