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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.


show annotations for term's descendants           Sort by:
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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113 		JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		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 chr 2:183,472,600...183,489,057
Ensembl chr 2:183,472,609...183,489,054 		JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,873,185...182,884,501
Ensembl chr 2:182,872,929...182,883,374 		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 chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815 		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 chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055 		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 chr10:5,403,099...5,445,989
Ensembl chr10:5,403,105...5,446,142 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,818,593...182,830,421
Ensembl chr 2:182,818,595...182,828,588 		JBrowse link
G C2cd4d C2 calcium-dependent domain containing 4D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:181,999,778...182,001,941
Ensembl chr 2:181,997,078...182,002,087 		JBrowse link
G C2h1orf54 similar to human chromosome 1 open reading frame 54 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,424,989...183,434,713
Ensembl chr 2:183,424,984...183,435,089 		JBrowse link
G C2h1orf56 similar to human chromosome 1 open reading frame 56 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,814,794...182,818,387
Ensembl chr 2:182,814,793...182,818,512 		JBrowse link
G Car14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,442,263...183,449,231
Ensembl chr 2:183,441,667...183,449,693 		JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019 		JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,805,691...182,813,520
Ensembl chr 2:182,804,925...182,814,028 		JBrowse link
G Celf3 CUGBP, Elav-like family member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,116,034...182,130,163
Ensembl chr 2:182,116,073...182,130,163 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314 		JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,308,389...182,335,747
Ensembl chr 2:182,308,714...182,334,645 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,981,266...175,992,820
Ensembl chr 2:175,981,271...175,992,748 		JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,419,819...183,424,845
Ensembl chr 2:183,419,819...183,423,313 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator severity ISO
ISS		 DNA:nonsense mutation:CDS:c.1256G>T, p.E381X (allele 1); DNA:splice-site mutation/deletion:CDS:p.D1078E/c.3349_3432del, p.1079_1106del (allele 2) (human)
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group A | ClinVar Annotator: match by term: MHC class II deficiency
OMIM:209920
CTD Direct Evidence: marker/mechanism
DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:8402893 PMID:9099848 PMID:9536098 PMID:11704716 PMID:11862382 More... RGD:1600188, RGD:5491200 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,833,025...174,837,614
Ensembl chr 2:174,833,050...174,837,636 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578 		JBrowse link
G Clk2 CDC-like kinase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,570,614...174,582,645
Ensembl chr 2:174,570,653...174,588,985 		JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379 		JBrowse link
G Crct1 cysteine-rich C-terminal 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,633,789...178,635,274
Ensembl chr 2:178,634,092...178,634,394 		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 chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932 		JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,733,329...178,736,404
Ensembl chr 2:178,731,796...178,736,216 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,765,203...174,784,023
Ensembl chr 2:174,765,350...174,781,806 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,781,806...174,795,834
Ensembl chr 2:174,781,902...174,795,832 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426 		JBrowse link
G Dexi Dexi homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:5,126,021...5,138,746
Ensembl chr10:5,137,288...5,138,738 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,681,676...174,689,061
Ensembl chr 2:174,681,682...174,690,866 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,729,192...174,738,111
Ensembl chr 2:174,729,764...174,738,736 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,748,729...174,752,979
Ensembl chr 2:174,748,724...174,752,979 		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 chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,185,552...183,192,888
Ensembl chr 2:183,185,552...183,194,847 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,588,984...174,595,281
Ensembl chr 2:174,589,337...174,595,281 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977 		JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,884,793...178,912,986 JBrowse link
G Flg2 filaggrin 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,789,792...178,802,232 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 chr 2:182,755,304...182,795,368
Ensembl chr 2:182,761,359...182,795,109 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,794,273...173,797,863
Ensembl chr 2:173,794,255...173,799,960 		JBrowse link
G Golph3l golgi phosphoprotein 3-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,151,941...183,183,094
Ensembl chr 2:183,153,301...183,183,083 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634 		JBrowse link
G Gpatch4 G patch domain containing 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,499,700...173,520,346
Ensembl chr 2:173,509,897...173,518,684 		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 chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588 		JBrowse link
G Hapstr1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714 		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 chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747 		JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,115,815...183,152,383
Ensembl chr 2:183,116,716...183,152,383 		JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,952,174...175,971,191
Ensembl chr 2:175,952,186...175,971,337 		JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709 		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 chr 2:173,542,151...173,583,956
Ensembl chr 2:173,542,110...173,583,956 		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 chr 2:173,396,780...173,407,102
Ensembl chr 2:173,396,780...173,406,614 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108 		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 chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145 		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 chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504 		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 chr 2:178,481,482...178,483,434
Ensembl chr 2:178,481,373...178,483,424 		JBrowse link
G Kprp keratinocyte proline-rich protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,429,923...178,434,221
Ensembl chr 2:178,429,923...178,434,221 		JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,654,409...174,658,405
Ensembl chr 2:174,654,219...174,658,405 		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 chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013 		JBrowse link
G Lce1b late cornified envelope 1B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,255,351...178,257,533
Ensembl chr 2:178,256,213...178,257,985 		JBrowse link
G Lce1e late cornified envelope 1E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,462,100...178,463,433
Ensembl chr 2:178,462,100...178,463,433 		JBrowse link
G Lce1f late cornified envelope 1F ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,305,786...178,307,372
Ensembl chr 2:178,305,786...178,307,372 		JBrowse link
G Lce1m late cornified envelope 1M ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,637,495...178,638,697
Ensembl chr 2:178,637,495...178,638,697 		JBrowse link
G Lce3e late cornified envelope 3E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,578,488...178,579,661
Ensembl chr 2:178,579,162...178,579,458 		JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,194,148...178,195,234
Ensembl chr 2:178,194,318...178,194,563 		JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,819,439...174,820,127
Ensembl chr 2:174,819,459...174,820,127 		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 chr 2:182,035,522...182,040,787
Ensembl chr 2:182,014,326...182,040,787 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,558,062...177,560,960
Ensembl chr 2:177,558,252...177,559,807 		JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,388,625...173,397,279
Ensembl chr 2:173,388,625...173,397,279 		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 chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377 		JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,859,977...182,873,000
Ensembl chr 2:182,860,472...182,873,015 		JBrowse link
G Mllt11 MLLT11, transcription factor 7 cofactor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199 		JBrowse link
G mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,383,062...173,389,249
Ensembl chr 2:173,383,224...173,389,248 		JBrowse link
G mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,082,012...182,086,758
Ensembl chr 2:182,076,369...182,087,095 		JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,406,791...183,414,413
Ensembl chr 2:183,406,792...183,414,372 		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 chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,721,983...183,732,148
Ensembl chr 2:183,723,530...183,732,148 		JBrowse link
G Mtx1 Metaxin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,615,460...174,621,383
Ensembl chr 2:174,615,461...174,620,982 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505 		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:28492532 NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719 		JBrowse link
G Ns5atp4 NS5A transactivated protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Nubp1 NUBP iron-sulfur cluster assembly factor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chr10:5,259,328...5,270,848 JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332 		JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,073,212...182,076,147
Ensembl chr 2:182,073,215...182,082,399 		JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,661,955...183,722,584
Ensembl chr 2:183,662,163...183,718,674 		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 chr 2:173,832,241...173,838,443
Ensembl chr 2:173,833,880...173,838,456 		JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,856,339...174,868,922
Ensembl chr 2:174,856,397...174,868,919 		JBrowse link
G Pglyrp3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,479,693...177,490,769
Ensembl chr 2:177,477,407...177,490,736
Ensembl chr 2:177,477,407...177,490,736 		JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,202,654...176,322,859
Ensembl chr 2:176,218,519...176,242,251 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488 		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 chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,544,487...183,552,928
Ensembl chr 2:183,544,499...183,552,785 		JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		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 chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707 		JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825 		JBrowse link
G Prm1 protamine 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,871,817...4,872,312 JBrowse link
G Prm2 protamine 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,876,285...4,877,026
Ensembl chr10:4,873,372...4,877,026 		JBrowse link
G Prm3 protamine 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,877,471...4,877,985
Ensembl chr10:4,877,471...4,877,985 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,599,483...177,600,849
Ensembl chr 2:177,599,483...177,600,849 		JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746 		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 chr 2:182,598,934...182,608,250
Ensembl chr 2:182,598,934...182,608,194 		JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,849,670...174,854,758
Ensembl chr 2:174,849,936...174,854,758 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422 		JBrowse link
G Rfx5 regulatory factor X5 ISO 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
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:7744245 PMID:9401005 PMID:9536098 PMID:10079298 PMID:10395672 More... NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717 		JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO 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
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:7951244 PMID:9536098 PMID:9806546 PMID:10725724 PMID:10803838 More... NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:650344 PMID:7021490 PMID:9118943 PMID:9287230 PMID:9536098 More... NCBI chr 2:139,008,052...139,012,235
Ensembl chr 2:139,008,055...139,012,259 		JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,704,852...173,717,380
Ensembl chr 2:173,704,562...173,717,321 		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 chr 2:182,099,924...182,110,544
Ensembl chr 2:182,101,795...182,110,319 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rmi2 RecQ mediated genome instability 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,829,333...4,837,264
Ensembl chr10:4,830,553...4,837,235 		JBrowse link
G Rorc RAR-related orphan receptor C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907 		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 chr 2:183,311,132...183,367,959
Ensembl chr 2:183,293,114...183,367,407 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964 		JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:179,061,768...179,066,056
Ensembl chr 2:179,060,017...179,065,910 		JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,487,921...174,497,266
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,123,510...174,124,664 JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661 		JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:179,191,688...179,197,098
Ensembl chr 2:179,191,715...179,197,044 		JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,999,439...176,005,933 JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,008,395...176,010,423
Ensembl chr 2:176,008,395...176,010,423 		JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,016,405...176,022,117
Ensembl chr 2:176,016,268...176,022,117 		JBrowse link
G S100a2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,077,081...176,078,325 JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,034,283...176,089,702
Ensembl chr 2:176,049,520...176,089,702 		JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254 		JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,095,332...176,099,546
Ensembl chr 2:176,097,539...176,099,546 		JBrowse link
G S100a6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180 		JBrowse link
G S100a7a S100 calcium binding protein A7A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441 		JBrowse link
G S100a8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230 		JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,583,124...174,588,984
Ensembl chr 2:174,570,653...174,588,985 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442 		JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,733,635...182,750,066
Ensembl chr 2:182,737,474...182,746,856 		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 chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506 		JBrowse link
G Sf3b4 splicing factor 3B subunit 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669 		JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020 		JBrowse link
G Slc27a3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,853,241...175,857,909
Ensembl chr 2:175,853,241...175,857,909 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058 		JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,677,985...174,680,366
Ensembl chr 2:174,677,708...174,680,366 		JBrowse link
G Smcp sperm mitochondria-associated cysteine-rich protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,160,948...178,165,951
Ensembl chr 2:178,160,127...178,166,001 		JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,804,987...173,832,102
Ensembl chr 2:173,805,019...173,832,102 		JBrowse link
G Snapin SNAP-associated protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,971,575...175,974,164
Ensembl chr 2:175,971,257...175,974,231 		JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Sprr1a small proline-rich protein 1A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063 		JBrowse link
G Sprr1b small proline-rich protein 1B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,008,844...178,010,742
Ensembl chr 2:178,009,130...178,009,567 		JBrowse link
G Sprr2a small proline rich protein 2A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,815,964...177,816,236
Ensembl chr 2:177,815,964...177,816,236 		JBrowse link
G Sprr2a2 small proline-rich protein 2A2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,719,576...177,719,845
Ensembl chr 2:177,719,576...177,719,845 		JBrowse link
G Sprr2b small proline rich protein 2B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096 		JBrowse link
G Sprr2d small proline-rich protein 2D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,870,082...177,870,679
Ensembl chr 2:177,870,434...177,870,679 		JBrowse link
G Sprr2f small proline rich protein 2F ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,989,974...177,990,204
Ensembl chr 2:177,989,974...177,990,204 		JBrowse link
G Sprr3 small proline-rich protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,027,743...178,028,501
Ensembl chr 2:178,027,425...178,029,891 		JBrowse link
G Sprr4 small proline-rich protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,082,466...178,083,125
Ensembl chr 2:178,082,871...178,083,104 		JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184 		JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:179,103,660...179,112,014
Ensembl chr 2:179,109,609...179,110,985
Ensembl chr 2:179,109,609...179,110,985 		JBrowse link
G Tchhl1 trichohyalin-like 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:179,134,941...179,138,467
Ensembl chr 2:179,135,796...179,138,202 		JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755 		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 chr10:5,279,856...5,316,619
Ensembl chr10:5,279,893...5,316,619 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:181,953,550...181,974,708
Ensembl chr 2:181,953,550...181,974,708 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:181,980,783...181,986,002
Ensembl chr 2:181,980,783...181,986,002 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,695,709...182,700,540
Ensembl chr 2:182,695,709...182,700,540 		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 chr 2:182,710,433...182,726,724
Ensembl chr 2:182,709,378...182,726,760 		JBrowse link
G Tnp2 transition protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,879,812...4,880,540
Ensembl chr10:4,879,812...4,880,538 		JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013 		JBrowse link
G Trim46 tripartite motif-containing 46 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,641,494...174,654,237
Ensembl chr 2:174,641,496...174,654,141 		JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,755,841...173,765,564
Ensembl chr 2:173,753,786...173,765,404 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,525,204...173,533,182
Ensembl chr 2:173,524,600...173,533,107 		JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192 		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 chr10:5,227,198...5,263,185
Ensembl chr10:5,227,220...5,263,180 		JBrowse link
G Ubap2l ubiquitin associated protein 2-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998 		JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295 		JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182 		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 chr 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236 		JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        combined immunodeficiency 896
          severe combined immunodeficiency 486
            MHC class II deficiency 229
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5573
        immune system disease 4781
          primary immunodeficiency disease 4151
            combined immunodeficiency 896
              severe combined immunodeficiency 486
                MHC class II deficiency 229
paths to the root