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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:MHC class II deficiency
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Accession:DOID:5812 term browser browse the term
Definition:A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes. (DO)
Synonyms:exact_synonym: BLS;   BLS Type II;   BLSII;   Bare Lymphocyte Syndrome Type 2, Complementation Group A;   Bare Lymphocyte Syndrome Type 2, Complementation Group E;   Bare Lymphocyte Syndrome, Type II, Complementation Group A;   Bare lymphocyte syndrome type 2;   SCID due to absent class II HLA antigens;   SCID, HLA class 2-negative;   SCID, HLA class II-negative;   bare lymphocyte syndrome 2;   bare lymphocyte syndrome type II;   severe combined immunodeficiency, HLA class II-negative
 narrow_synonym: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B;   BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C;   BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D;   BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E
 primary_id: MESH:C537079;   MESH:C565910
 alt_id: OMIM:209920;   RDO:0002851;   RDO:0014424;   RDO:9002914
 xref: ICD10CM:D81.6;   NCI:C171268;   NCI:C3895
For additional species annotation, visit the Alliance of Genome Resources.

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MHC class II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103 		JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,545,532...1,555,826
Ensembl chrNW_004955545:1,545,635...1,555,614 		JBrowse link
G Adamtsl4 ADAMTS like 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:258,078...269,324
Ensembl chrNW_004955413:257,915...269,325 		JBrowse link
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938 		JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:531,716...550,480
Ensembl chrNW_004955413:531,970...548,294 		JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:352,175...374,723
Ensembl chrNW_004955588:352,176...370,418 		JBrowse link
G Aph1a aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:506,297...509,787
Ensembl chrNW_004955413:506,297...509,787 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:845,749...848,738
Ensembl chrNW_004955545:845,749...848,738 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,149,107...2,192,986
Ensembl chrNW_004955545:2,149,107...2,197,153 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:159,462...233,047
Ensembl chrNW_004955588:159,462...233,047 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,778,905...1,950,656
Ensembl chrNW_004955545:1,778,905...1,923,104 		JBrowse link
G Atf7ip2 activating transcription factor 7 interacting protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:7,896,626...7,975,579
Ensembl chrNW_004955442:7,894,518...7,941,580 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:850,522...872,650
Ensembl chrNW_004955545:852,201...872,789 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,723,780...2,739,334
Ensembl chrNW_004955545:2,723,780...2,739,450 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,381,091...2,382,114
Ensembl chrNW_004955545:2,381,156...2,381,978 		JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:409,509...417,825
Ensembl chrNW_004955588:409,511...417,825 		JBrowse link
G C2cd4d C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:582,261...583,519 JBrowse link
G Ca14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:510,089...516,892
Ensembl chrNW_004955413:510,089...516,892 		JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:9,382,360...9,388,414
Ensembl chrNW_004955442:9,382,354...9,388,414 		JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,444,988...2,460,976
Ensembl chrNW_004955545:2,444,988...2,461,113 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:423,091...440,248
Ensembl chrNW_004955588:423,091...429,917 		JBrowse link
G Celf3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:700,965...715,684
Ensembl chrNW_004955589:701,767...713,179 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:338,381...342,139
Ensembl chrNW_004955588:336,083...342,599 		JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:752,737...754,039
Ensembl chrNW_004955545:752,737...754,042 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:855,715...881,123
Ensembl chrNW_004955589:856,618...881,150 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,065,457...1,077,056
Ensembl chrNW_004955545:1,065,457...1,077,526 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:282,342...292,428
Ensembl chrNW_004955545:282,342...292,785 		JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:490,117...494,332 JBrowse link
G Ciita class II major histocompatibility complex transactivator severity
susceptibility		 ISO DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group A | ClinVar Annotator: match by term: MHC class II deficiency		 RGD
OMIM
ClinVar		 PMID:8402893 PMID:9099848 PMID:9536098 PMID:11466404 PMID:11704716 More... RGD:5491200 NCBI chrNW_004955442:7,600,903...7,647,619
Ensembl chrNW_004955442:7,603,893...7,647,624 		JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,479,454...1,483,474
Ensembl chrNW_004955545:1,479,454...1,483,474 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:7,369,616...7,584,052
Ensembl chrNW_004955442:7,368,952...7,584,703 		JBrowse link
G Clk2 CDC like kinase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,716,294...1,727,187
Ensembl chrNW_004955545:1,716,294...1,725,185 		JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,777,523...2,782,567
Ensembl chrNW_004955545:2,777,474...2,782,567 		JBrowse link
G Crct1 cysteine rich C-terminal 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:895,325...896,939 JBrowse link
G Creb3l4 cAMP responsive element binding protein 3 like 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:563,710...569,224
Ensembl chrNW_004955545:564,193...568,942 		JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:47,743...75,383
Ensembl chrNW_004955589:47,531...77,458 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:542,916...554,675
Ensembl chrNW_004955545:541,849...554,884 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:149,036...158,093
Ensembl chrNW_004955588:148,748...158,093 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:99,279...124,793
Ensembl chrNW_004955413:99,159...124,042 		JBrowse link
G CUNH1orf43 chromosome unknown C1orf43 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:760,857...767,801
Ensembl chrNW_004955545:760,684...767,896 		JBrowse link
G CUNH1orf54 chromosome unknown C1orf54 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:496,136...505,911
Ensembl chrNW_004955413:497,012...503,792 		JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,951,008...1,981,174
Ensembl chrNW_004955545:1,951,150...1,980,861 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,529,926...1,545,459
Ensembl chrNW_004955545:1,530,062...1,545,139 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,518,917...1,529,865
Ensembl chrNW_004955545:1,523,100...1,529,865 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:526,057...541,118
Ensembl chrNW_004955545:523,705...541,118 		JBrowse link
G Dexi Dexi homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:7,585,954...7,599,413
Ensembl chrNW_004955442:7,585,954...7,599,413 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,621,515...1,622,103
Ensembl chrNW_004955545:1,617,538...1,638,062 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:293,295...299,293
Ensembl chrNW_004955413:290,363...299,130 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,610,929...1,617,217
Ensembl chrNW_004955545:1,610,929...1,617,460 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,570,351...1,578,610
Ensembl chrNW_004955545:1,570,339...1,577,639 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,557,107...1,561,234
Ensembl chrNW_004955545:1,556,584...1,561,354 		JBrowse link
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chrNW_004955442:7,826,967...7,862,035
Ensembl chrNW_004955442:7,826,738...7,860,028 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:197,239...204,867
Ensembl chrNW_004955413:197,242...204,867 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,703,860...1,710,120
Ensembl chrNW_004955545:1,704,422...1,709,605 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,487,929...1,495,808
Ensembl chrNW_004955545:1,487,818...1,497,839 		JBrowse link
G Gabpb2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:439,822...477,159
Ensembl chrNW_004955588:459,211...480,421 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:424,997...519,031
Ensembl chrNW_004955545:430,245...517,790 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,436,718...2,439,988
Ensembl chrNW_004955545:2,437,245...2,439,940 		JBrowse link
G Golph3l golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:154,696...183,657
Ensembl chrNW_004955413:150,864...183,657 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,990,202...2,054,614 JBrowse link
G Gpatch4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,684,827...2,694,733
Ensembl chrNW_004955545:2,685,568...2,693,133 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,705,903...2,710,763
Ensembl chrNW_004955545:2,709,013...2,710,588 		JBrowse link
G Hapstr1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:9,161,383...9,189,376
Ensembl chrNW_004955442:9,164,113...9,189,588 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:816,789...819,667 JBrowse link
G Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,730,940...1,744,439
Ensembl chrNW_004955545:1,730,940...1,742,065 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,819,960...2,831,197
Ensembl chrNW_004955545:2,819,960...2,830,047 		JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:130,214...155,381
Ensembl chrNW_004955413:132,711...152,720 		JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:308,560...316,053
Ensembl chrNW_004955545:306,140...316,485 		JBrowse link
G Insrr insulin receptor related receptor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,911,691...2,928,335
Ensembl chrNW_004955545:2,911,691...2,928,326 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:352,170...394,751
Ensembl chrNW_004955545:351,872...396,052 		JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,627,334...2,663,786
Ensembl chrNW_004955545:2,628,552...2,663,737 		JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,797,370...2,804,142
Ensembl chrNW_004955545:2,795,936...2,804,248 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:522,730...525,728 JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:569,473...571,725
Ensembl chrNW_004955545:569,473...571,725 		JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,212,240...1,374,189
Ensembl chrNW_004955545:1,216,650...1,374,270 		JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,100,440...2,120,412
Ensembl chrNW_004955545:2,100,440...2,120,411 		JBrowse link
G Kplce KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:680,843...682,874
Ensembl chrNW_004955592:681,046...681,930 		JBrowse link
G Kprp keratinocyte proline rich protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:642,559...647,030 JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,642,578...1,645,699
Ensembl chrNW_004955545:1,642,578...1,645,698 		JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,237,506...2,242,070
Ensembl chrNW_004955545:2,236,868...2,242,137 		JBrowse link
G Lelp1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:219,771...222,770
Ensembl chrNW_004955592:217,385...222,865 		JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,495,877...1,497,014 JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:618,959...623,915
Ensembl chrNW_004955589:618,998...623,239 		JBrowse link
G Litaf lipopolysaccharide induced TNF factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:7,054,418...7,084,973
Ensembl chrNW_004955442:7,077,823...7,083,437 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G LOC102022034 chromosome unknown open reading frame, human C1orf56 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:417,837...421,880 JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:167,139...169,638 JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:517,313...526,857
Ensembl chrNW_004955588:517,313...526,856 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:238,043...243,317 JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,569,399...2,602,580
Ensembl chrNW_004955545:2,569,399...2,602,579 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,804,327...2,814,081
Ensembl chrNW_004955545:2,804,456...2,814,081 		JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,255,612...2,260,860
Ensembl chrNW_004955545:2,255,704...2,260,770 		JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:371,325...382,167
Ensembl chrNW_004955588:371,739...377,004 		JBrowse link
G Mllt11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:427,102...438,578 JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,814,358...2,818,648
Ensembl chrNW_004955545:2,814,358...2,818,648 		JBrowse link
G Mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:662,713...666,488
Ensembl chrNW_004955589:662,713...666,488 		JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:471,334...484,780
Ensembl chrNW_004955413:471,334...484,780 		JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,985,231...1,990,095
Ensembl chrNW_004955545:1,985,780...1,990,047 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:817,479...825,435
Ensembl chrNW_004955413:817,264...824,924 		JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,676,292...1,682,106 JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,657,728...1,662,112 JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,682,384...2,687,348
Ensembl chrNW_004955545:2,682,385...2,684,518 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,748,132...2,756,595
Ensembl chrNW_004955545:2,748,078...2,756,301 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:323,386...338,654
Ensembl chrNW_004955545:323,956...338,097 		JBrowse link
G Nr2c2ap nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:25741868 PMID:25741916 PMID:28492532 NCBI chrNW_004955524:2,634,302...2,635,982
Ensembl chrNW_004955524:2,618,957...2,635,982 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579 		JBrowse link
G Nubp1 NUBP iron-sulfur cluster assembly factor 1, cytosolic ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chrNW_004955442:7,717,422...7,732,496
Ensembl chrNW_004955442:7,717,422...7,732,496 		JBrowse link
G Nup210l nucleoporin 210 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:601,727...714,225
Ensembl chrNW_004955545:601,900...714,135 		JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:654,088...658,003 JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:758,098...812,605
Ensembl chrNW_004955413:751,546...812,605 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,382,214...2,386,406
Ensembl chrNW_004955545:2,382,818...2,385,325 		JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,451,541...1,467,856
Ensembl chrNW_004955545:1,452,395...1,462,639 		JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:100,022...111,609
Ensembl chrNW_004955592:100,088...111,610 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:648,180...679,374
Ensembl chrNW_004955588:648,180...679,374 		JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:555,818...605,459
Ensembl chrNW_004955588:555,821...605,723 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632 		JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:603,011...606,487
Ensembl chrNW_004955413:603,128...616,015 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:9,390,789...9,411,722
Ensembl chrNW_004955442:9,389,443...9,411,719 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:920,729...975,242
Ensembl chrNW_004955589:920,508...976,366 		JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,846,116...2,878,247
Ensembl chrNW_004955545:2,852,621...2,878,664 		JBrowse link
G Prm3 protamine 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:7,308,621...7,309,105
Ensembl chrNW_004955442:7,306,672...7,309,671 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:429,259...455,449
Ensembl chrNW_004955413:429,259...455,463 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:208,102...209,795
Ensembl chrNW_004955592:208,102...209,795 		JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:379,793...408,441
Ensembl chrNW_004955588:382,425...407,020 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:976,216...978,566
Ensembl chrNW_004955589:976,321...978,617 		JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:607,763...618,040
Ensembl chrNW_004955588:607,289...618,040 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:590,021...594,191
Ensembl chrNW_004955545:589,239...594,835 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,243,237...2,250,507
Ensembl chrNW_004955545:2,242,944...2,252,840 		JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency
ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency		 OMIM
ClinVar		 PMID:7744245 PMID:9401005 PMID:9536098 PMID:10079298 PMID:10395672 More... NCBI chrNW_004955588:687,086...695,696
Ensembl chrNW_004955588:689,170...695,695 		JBrowse link
G Rfxank regulatory factor X associated ankyrin containing protein ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar Annotator: match by term: SCID, HLA Class 2-Negative
ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency		 OMIM
ClinVar		 PMID:7951244 PMID:9536098 PMID:9806546 PMID:10725724 PMID:10803838 More... NCBI chrNW_004955524:2,635,358...2,642,206
Ensembl chrNW_004955524:2,635,358...2,641,765 		JBrowse link
G Rfxap regulatory factor X associated protein ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome, Type II, Complementation Group D | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar Annotator: match by term: SCID, HLA Class 2-Negative OMIM
ClinVar		 PMID:650344 PMID:7021490 PMID:9118943 PMID:9287230 PMID:9536098 More... NCBI chrNW_004955431:9,200,006...9,209,588
Ensembl chrNW_004955431:9,200,117...9,208,811 		JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,491,417...2,504,013
Ensembl chrNW_004955545:2,490,924...2,504,085 		JBrowse link
G Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:686,722...695,805 JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,089,530...2,099,404
Ensembl chrNW_004955545:2,089,536...2,099,404 		JBrowse link
G Rmi2 RecQ mediated genome instability 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:7,262,381...7,266,992
Ensembl chrNW_004955442:7,262,381...7,267,428 		JBrowse link
G Rorc RAR related orphan receptor C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:590,653...616,784
Ensembl chrNW_004955589:590,743...616,694 		JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:321,707...420,626
Ensembl chrNW_004955413:324,873...419,347 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:599,762...601,399
Ensembl chrNW_004955545:599,762...601,399 		JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:245,804...252,190 JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,765,364...1,773,889
Ensembl chrNW_004955545:1,765,800...1,773,889 		JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,143,832...2,145,939 JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:276,868...281,015
Ensembl chrNW_004955545:276,868...281,015 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:435,798...446,361 JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:405,544...409,936
Ensembl chrNW_004955589:408,319...413,971 		JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:266,674...282,408
Ensembl chrNW_004955545:264,455...282,497 		JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:261,483...263,689
Ensembl chrNW_004955545:261,323...264,374 		JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:254,370...260,471
Ensembl chrNW_004955545:254,370...260,471 		JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:195,834...205,442
Ensembl chrNW_004955545:195,779...205,471 		JBrowse link
G S100a4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:192,236...194,468
Ensembl chrNW_004955545:192,116...195,394 		JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:187,159...190,399
Ensembl chrNW_004955545:187,147...190,143 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:90,647...93,842 JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,710,755...1,715,739
Ensembl chrNW_004955545:1,709,381...1,715,739 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:703,928...713,941
Ensembl chrNW_004955588:703,928...714,763 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,316,402...2,341,873
Ensembl chrNW_004955545:2,316,390...2,342,233 		JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:490,581...504,436
Ensembl chrNW_004955588:490,615...500,189 		JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:290,497...338,438
Ensembl chrNW_004955588:290,168...338,426 		JBrowse link
G Sf3b4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:826,190...830,502
Ensembl chrNW_004955413:826,190...832,496 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,881,954...2,891,021
Ensembl chrNW_004955545:2,881,563...2,891,509 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,468,391...1,479,209
Ensembl chrNW_004955545:1,468,391...1,476,814 		JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:989,390...1,011,100
Ensembl chrNW_004955545:991,593...1,011,080 		JBrowse link
G Slc25a44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,347,951...2,364,935
Ensembl chrNW_004955545:2,347,844...2,364,935 		JBrowse link
G Slc27a3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:395,938...400,324
Ensembl chrNW_004955545:396,102...400,188 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:556,210...559,732
Ensembl chrNW_004955545:554,947...560,336 		JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,617,725...1,620,804
Ensembl chrNW_004955545:1,617,538...1,625,022 		JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,386,877...2,418,418
Ensembl chrNW_004955545:2,386,877...2,418,418 		JBrowse link
G Snapin SNAP associated protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:306,546...308,229
Ensembl chrNW_004955545:306,546...308,229 		JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:719,892...799,367
Ensembl chrNW_004955589:719,898...799,366 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109 		JBrowse link
G Sprr4 small proline rich protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:424,261...426,415 JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,205,906...2,213,780
Ensembl chrNW_004955545:2,205,906...2,212,851 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,054,720...2,074,526
Ensembl chrNW_004955545:2,054,721...2,074,526 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:300,142...314,703
Ensembl chrNW_004955413:300,142...314,703 		JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:293,887...302,128 JBrowse link
G Tchhl1 trichohyalin like 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:335,920...343,206 JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:630,989...649,936
Ensembl chrNW_004955589:631,462...649,936 		JBrowse link
G Tekt5 tektin 5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chrNW_004955442:7,740,611...7,778,130
Ensembl chrNW_004955442:7,740,540...7,778,245 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,664,372...1,675,810
Ensembl chrNW_004955545:1,664,372...1,675,810 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:517,489...545,779
Ensembl chrNW_004955589:517,600...547,649 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:546,592...571,844
Ensembl chrNW_004955589:565,182...574,872 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:9,411,849...9,414,017
Ensembl chrNW_004955442:9,411,908...9,417,324 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,420,594...2,436,485
Ensembl chrNW_004955545:2,420,592...2,436,485 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:530,288...535,789
Ensembl chrNW_004955588:526,380...535,895 		JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:514,567...517,314
Ensembl chrNW_004955588:514,567...517,314 		JBrowse link
G Tnp2 transition protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:7,311,826...7,314,046 JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:715,860...746,580
Ensembl chrNW_004955545:715,280...746,575 		JBrowse link
G Trim46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,646,244...1,656,825
Ensembl chrNW_004955545:1,646,244...1,656,825 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,670,629...2,679,093 JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:817,001...854,492
Ensembl chrNW_004955589:817,001...854,492 		JBrowse link
G Tvp23a trans-golgi network vesicle protein 23 homolog A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chrNW_004955442:7,691,770...7,716,383
Ensembl chrNW_004955442:7,692,579...7,716,699 		JBrowse link
G Ubap2l ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:767,265...815,632
Ensembl chrNW_004955545:768,058...815,632 		JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,047,536...1,055,806
Ensembl chrNW_004955545:1,046,138...1,055,806 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,218,794...2,236,665
Ensembl chrNW_004955545:2,220,548...2,236,646 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:9,316,022...9,355,751
Ensembl chrNW_004955442:9,315,225...9,356,393 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:615,510...680,564
Ensembl chrNW_004955413:614,018...680,564 		JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:537,122...550,564
Ensembl chrNW_004955588:536,788...551,241 		JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,504,656...1,519,954
Ensembl chrNW_004955545:1,503,514...1,521,003 		JBrowse link
G Znf687 zinc finger protein 687 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:639,677...647,978
Ensembl chrNW_004955588:642,521...647,396 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      primary immunodeficiency disease 3474
        combined immunodeficiency 805
          severe combined immunodeficiency 435
            MHC class II deficiency 202
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Immune & Inflammatory Diseases 4636
        immune system disease 4034
          primary immunodeficiency disease 3474
            combined immunodeficiency 805
              severe combined immunodeficiency 435
                MHC class II deficiency 202
paths to the root