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
Accession: DOID:9000240
browse the term
Synonyms: exact_synonym: MST1 DEFICIENCY; STK4 DEFICIENCY; TIIAC
primary_id: OMIM:614868
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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 3:153,531,192...153,542,851
Ensembl chr 3:153,531,193...153,542,851
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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 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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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 3:152,491,247...152,502,639
Ensembl chr 3:152,491,220...152,502,636
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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 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
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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 3:153,216,300...153,220,651
Ensembl chr 3:153,191,090...153,220,651
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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 3:153,481,718...153,505,403
Ensembl chr 3:153,481,705...153,505,759
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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 3:153,312,396...153,319,310
Ensembl chr 3:153,312,396...153,319,310
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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 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858
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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 3:152,110,225...152,129,693
Ensembl chr 3:152,110,253...152,128,711
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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 3:151,736,020...151,738,715
Ensembl chr 3:151,735,997...151,736,863
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Hnf4a
hepatocyte 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 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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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 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980
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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 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
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Kcnk15
potassium two pore domain 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 3:152,515,237...152,521,455
Ensembl chr 3:152,515,237...152,521,455
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Kcns1
potassium voltage-gated channel, modifier subfamily S, member 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 3:152,835,642...152,843,032
Ensembl chr 3:152,835,644...152,842,960
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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 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865
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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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mybl2
MYB proto-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 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708
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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 3:153,566,659...153,569,380
Ensembl chr 3:153,566,660...153,569,380
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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 3:152,066,975...152,085,180
Ensembl chr 3:152,066,975...152,085,149
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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 3:152,692,825...152,725,997
Ensembl chr 3:152,693,700...152,725,997
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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 3:153,614,147...153,627,079
Ensembl chr 3:153,614,147...153,627,079
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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 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Pkig
cAMP-dependent 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 3:152,330,477...152,398,085
Ensembl chr 3:152,366,041...152,398,082
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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 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
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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 3:152,171,382...152,182,151
Ensembl chr 3:152,171,382...152,182,151
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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 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513
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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 3:152,520,982...152,585,070
Ensembl chr 3:152,524,095...152,584,780
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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 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580
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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 3:152,910,033...152,912,882
Ensembl chr 3:152,910,034...152,912,882
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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 3:152,301,882...152,321,327
Ensembl chr 3:152,301,772...152,321,808
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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 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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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 3:153,522,474...153,532,235
Ensembl chr 3:153,522,486...153,532,221
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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 3:153,562,479...153,566,508
Ensembl chr 3:153,562,528...153,564,480
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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 3:153,293,969...153,296,717
Ensembl chr 3:153,294,010...153,296,779
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Spint4
serine peptidase 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 3:153,430,633...153,432,821
Ensembl chr 3:153,430,633...153,433,439
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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 PMID:25741868 PMID:26801501 PMID:28492532 PMID:34427831 More...
NCBI chr 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744
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Sys1
Sys1 golgi trafficking 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 3:153,191,061...153,195,463
Ensembl chr 3:153,191,090...153,220,651
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Tnnc2
troponin C2, fast skeletal type
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 3:153,513,272...153,516,033
Ensembl chr 3:153,513,271...153,516,029
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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 3:152,729,345...152,746,295
Ensembl chr 3:152,729,349...152,746,373
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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 3:151,853,294...151,980,086
Ensembl chr 3:151,853,294...151,980,749
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Tp53tg5
TP53 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 3:153,200,792...153,204,337
Ensembl chr 3:153,200,789...153,204,349
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Ttpal
alpha tocopherol 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 3:152,278,246...152,296,550
Ensembl chr 3:152,278,303...152,296,513
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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 3:153,506,636...153,509,036
Ensembl chr 3:153,506,636...153,513,339
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Wfdc10a
WAP four-disulfide core domain 10A
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 3:153,390,067...153,391,420
Ensembl chr 3:153,390,067...153,391,420
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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 3:153,397,585...153,406,407
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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 3:152,861,461...152,862,784
Ensembl chr 3:152,862,341...152,862,690
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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 3:153,419,553...153,421,306
Ensembl chr 3:153,419,648...153,421,221
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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 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807
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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 3:153,464,862...153,478,952
Ensembl chr 3:153,464,862...153,478,952
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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 3:152,849,025...152,854,868
Ensembl chr 3:152,849,025...152,854,904
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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 3:153,305,336...153,309,144
Ensembl chr 3:153,305,336...153,309,144
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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 3:153,323,503...153,339,849
Ensembl chr 3:153,324,413...153,339,842
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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 3:153,380,554...153,389,055
Ensembl chr 3:153,380,649...153,391,261
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Ywhab
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta
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 3:152,659,663...152,682,105
Ensembl chr 3:152,659,651...152,682,105
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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 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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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 3:153,559,104...153,562,821
Ensembl chr 3:153,558,970...153,562,915
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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 3:153,542,741...153,558,022
Ensembl chr 3:153,542,743...153,558,018
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