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
Accession: DOID:5812
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
xref: ICD10CM:D81.6 ; MIM:PS209920 ; NCI:C3895
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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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
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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
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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
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Alg5
ALG5, dolichyl-phosphate beta-glucosyltransferase
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:9118943 PMID:22390233 PMID:28492532
NCBI chr 2:138,936,998...138,951,228
Ensembl chr 2:138,936,993...138,951,216
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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: MHC class II deficiency ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: BLS, TYPE II | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar Annotator: match by term: SCID, HLA Class 2-Negative OMIM:209920 DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells (human)
ClinVar MouseDO RGD
PMID:8402893 PMID:9099848 PMID:9536098 PMID:11704716 PMID:11862382 PMID:15897313 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24044430 PMID:25741868 PMID:26271388 PMID:27484032 PMID:28492532 PMID:29095814 PMID:30170160 PMID:30609409 PMID:30778343 PMID:31980526 PMID:33386785 PMID:9099848 PMID:11466404 More...
RGD:1600188 , RGD:5491200
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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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
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Clec16a
C-type lectin domain containing 16A
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Dexi
Dexi homolog
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532
NCBI chr10:5,126,021...5,138,746
Ensembl chr10:5,137,288...5,138,738
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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
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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
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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
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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
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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
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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
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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
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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
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Exosc8
exosome component 8
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:9118943 PMID:22390233 PMID:28492532
NCBI chr 2:138,930,405...138,937,009
Ensembl chr 2:138,930,405...138,936,928
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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
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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
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Flg
filaggrin
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,884,793...178,912,986
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Litaf
lipopolysaccharide-induced TNF factor
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532
NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Nr2c2ap
nuclear receptor 2C2-associated protein
ISO
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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
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
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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
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
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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
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
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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
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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
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Prm1
protamine 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532
NCBI chr10:4,871,817...4,872,312
G
Prm2
protamine 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532
NCBI chr10:4,876,285...4,877,026
Ensembl chr10:4,873,372...4,877,026
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Prm3
protamine 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532
NCBI chr10:4,877,471...4,877,985
Ensembl chr10:4,877,471...4,877,985
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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
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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
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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
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
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
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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
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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
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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
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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
ClinVar
PMID:7744245 PMID:7990905 PMID:9401005 PMID:9536098 PMID:10079298 PMID:10395672 PMID:12368908 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26193622 PMID:28492532 PMID:29527204 PMID:30084052 PMID:30170160 PMID:32888943 PMID:37584719 More...
NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
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
PMID:7951244 PMID:8229525 PMID:9536098 PMID:9806546 PMID:10803838 PMID:11313409 PMID:12618906 PMID:16166641 PMID:16199547 PMID:17576681 PMID:21908431 PMID:22524894 PMID:22863278 PMID:24033266 PMID:25741868 PMID:27980538 PMID:28492532 PMID:28916186 PMID:30170160 PMID:32373116 PMID:34330684 PMID:37584719 More...
NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255
G
Rfxap
regulatory factor X-associated protein
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:650344 PMID:7021490 PMID:9118943 PMID:9287230 PMID:9536098 PMID:12498778 PMID:17576681 PMID:20197681 PMID:22390233 PMID:25741868 PMID:28492532 PMID:31589614 More...
NCBI chr 2:139,008,052...139,012,235
Ensembl chr 2:139,008,055...139,012,259
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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
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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
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
G
Rmi2
RecQ mediated genome instability 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532
NCBI chr10:4,829,333...4,837,264
Ensembl chr10:4,830,553...4,837,235
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
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
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:9118943 PMID:22390233 PMID:28492532
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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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
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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
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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
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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
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Socs1
suppressor of cytokine signaling 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Tnp2
transition protein 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532
NCBI chr10:4,879,812...4,880,540
Ensembl chr10:4,879,812...4,880,538
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ciita
class II, major histocompatibility complex, transactivator
susceptibility
ISO
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: MHC class II deficiency 1
ClinVar OMIM
PMID:8402893 PMID:9099848 PMID:11704716 PMID:11862382 PMID:24033266 PMID:25741868 PMID:26271388 PMID:28492532 PMID:30170160 PMID:30609409 PMID:31980526 More...
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Nr2c2ap
nuclear receptor 2C2-associated protein
ISO
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A
ClinVar
PMID:25741868
NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719
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Rfx5
regulatory factor X5
ISO
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
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Rfxank
regulatory factor X-associated ankyrin-containing protein
ISO
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: MHC class II deficiency 1
ClinVar
PMID:7951244 PMID:8229525 PMID:9806546 PMID:10803838 PMID:16166641 PMID:16199547 PMID:21908431 PMID:22524894 PMID:22863278 PMID:25741868 PMID:28492532 More...
NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255
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Rfxap
regulatory factor X-associated protein
ISO
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:139,008,052...139,012,235
Ensembl chr 2:139,008,055...139,012,259
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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: MHC class II deficiency 2
ClinVar OMIM
PMID:7951244 PMID:8229525 PMID:9536098 PMID:9806546 PMID:10725724 PMID:10803838 PMID:11313409 PMID:11463838 PMID:12618906 PMID:16166641 PMID:16199547 PMID:17576681 PMID:21908431 PMID:22524894 PMID:22863278 PMID:25741868 PMID:27980538 PMID:28492532 PMID:28916186 PMID:32373116 PMID:34330684 PMID:37584719 More...
NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255
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Rfx5
regulatory factor X5
ISO
ClinVar Annotator: match by term: MHC class II deficiency 3
ClinVar OMIM
PMID:7744245 PMID:9401005 PMID:10079298 PMID:25741868 PMID:28492532 PMID:30084052 PMID:30170160 PMID:32888943 PMID:37584719 More...
NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
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Rfxank
regulatory factor X-associated ankyrin-containing protein
ISO
ClinVar Annotator: match by term: MHC class II deficiency 3
ClinVar
PMID:11313409 PMID:25741868
NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255
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Rfxap
regulatory factor X-associated protein
ISO
ClinVar Annotator: match by term: MHC class II deficiency 4
ClinVar OMIM
PMID:650344 PMID:7021490 PMID:7721350 PMID:9118943 PMID:9287230 PMID:20197681 PMID:22390233 PMID:28492532 PMID:37584719 More...
NCBI chr 2:139,008,052...139,012,235
Ensembl chr 2:139,008,055...139,012,259
G
Rfx5
regulatory factor X5
ISO
ClinVar Annotator: match by term: MHC class II deficiency 5
ClinVar OMIM
PMID:7990905 PMID:12368908 PMID:28492532
NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
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