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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:severe combined immunodeficiency
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Accession:DOID:627 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. (DO)
Synonyms:exact_synonym: Bare Lymphocyte Syndrome;   Familial Reticuloendotheliosis;   SCID;   Severe Combined Immune Deficiency;   Severe Combined Immunodeficiencies;   bare lymphocyte syndromes;   combined T and B cell inborn immunodeficiency;   familial reticuloendothelioses;   severe combined immunodeficiency disease;   severe combined immunodeficiency syndrome;   severe combined immunologic deficiency
 narrow_synonym: Severe combined immunodeficiency disease, autosomal
 primary_id: MESH:D016511
 alt_id: OMIA:000220
 xref: GARD:7628;   NCI:C3472;   OMIM:PS601457
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar
RGD		 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1401934 More... RGD:1300353 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Ak2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe combined immunodeficiency disease		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:26229552 More... NCBI chr 4:128,887,017...128,905,322
Ensembl chr 4:128,885,751...128,905,322 		JBrowse link
G Cd3d CD3 antigen, delta polypeptide ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:15546002 PMID:17576681 PMID:25741868 PMID:28492532 More... RGD:1549420 NCBI chr 9:44,893,067...44,898,350
Ensembl chr 9:44,893,084...44,898,637 		JBrowse link
G Cd3e CD3 antigen, epsilon polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe combined immunodeficiency disease		 CTD
ClinVar		 PMID:8490660 PMID:15546002 PMID:25741868 PMID:28492532 PMID:33628209 NCBI chr 9:44,910,033...44,920,961
Ensembl chr 9:44,910,038...44,920,925 		JBrowse link
G Cd3g CD3 antigen, gamma polypeptide ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr 9:44,880,870...44,891,729
Ensembl chr 9:44,880,870...44,891,729 		JBrowse link
G Ciita class II transactivator ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282 		JBrowse link
G Coro1a coronin, actin binding protein 1A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959 		JBrowse link
G Dclre1c DNA cross-link repair 1C susceptibility ISO DNA:deletion:exon
ClinVar Annotator: match by term: Severe combined immunodeficiency disease		 ClinVar
RGD		 PMID:11336668 PMID:12727634 PMID:20674517 PMID:21664875 PMID:22527898 More... RGD:1601049 NCBI chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:14722525 PMID:16199547 PMID:18060736 PMID:19776401 PMID:24033266 More... NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:17548465 PMID:24033266 PMID:24589341 PMID:24931394 PMID:25741868 More... NCBI chr 9:86,349,194...86,436,683
Ensembl chr 9:86,349,207...86,437,976 		JBrowse link
G Epo erythropoietin IMP Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Ikbkb inhibitor of kappaB kinase beta ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 8:23,149,228...23,196,605
Ensembl chr 8:23,149,228...23,196,605 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2342538 RGD:1600060 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il2rg interleukin 2 receptor, gamma chain ISO X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chr  X:100,307,991...100,311,861
Ensembl chr  X:100,307,984...100,311,861 		JBrowse link
G Il7r interleukin 7 receptor ISO autosomal recessive T cell(-), B cell(+), NK cell(+) severe combined immunodeficiency, OMIM:608971
ClinVar Annotator: match by term: Severe combined immunodeficiency disease		 ClinVar
RGD		 PMID:15661025 PMID:16492442 PMID:17201233 PMID:17827065 PMID:18403192 More... RGD:1600151 NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262 		JBrowse link
G Inpp5d inositol polyphosphate-5-phosphatase D ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chr 1:87,548,034...87,648,232
Ensembl chr 1:87,548,034...87,648,229 		JBrowse link
G Jak3 Janus kinase 3 treatment IMP
ISO		 ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... RGD:11531109 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Kdm2b lysine (K)-specific demethylase 2B ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chr 5:123,008,727...123,127,333
Ensembl chr 5:123,008,728...123,127,886 		JBrowse link
G Lck lymphocyte protein tyrosine kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:27748010 NCBI chr 4:129,442,142...129,467,415
Ensembl chr 4:129,442,137...129,467,434 		JBrowse link
G Lig4 ligase IV, DNA, ATP-dependent ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:16585603 PMID:18845326 PMID:26151233 PMID:28492532 PMID:31604460 NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686 		JBrowse link
G LOC107372314 adenosine deaminase intronic regulatory elements ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:8120281 PMID:8178821 PMID:21664875 PMID:25741868 PMID:28492532 NCBI chr 2:163,577,759...163,588,199 JBrowse link
G Malt1 MALT1 paracaspase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr18:65,564,010...65,612,138
Ensembl chr18:65,564,009...65,612,138 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:21813566 PMID:23296427 PMID:23402911 PMID:25548164 PMID:25633902 More... NCBI chr12:76,301,180...76,366,594
Ensembl chr12:76,302,072...76,366,577 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More... NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262 		JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:25741868 NCBI chr 8:70,583,977...70,586,402
Ensembl chr 8:70,583,983...70,586,399 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:17548465 PMID:24033266 PMID:24589341 PMID:24931394 PMID:25741868 More... NCBI chr 9:86,423,997...86,453,927
Ensembl chr 9:86,436,430...86,453,895 		JBrowse link
G Pnp2 purine-nucleoside phosphorylase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:1384322 PMID:9067751 PMID:22132981 PMID:23371835 PMID:24033266 More... NCBI chr14:51,193,598...51,202,206
Ensembl chr14:51,193,449...51,202,206 		JBrowse link
G Prkdc protein kinase, DNA activated, catalytic polypeptide IAGP
ISO		 RGD PMID:9122213 PMID:22981234 RGD:1599202, RGD:8696027 NCBI chr16:15,455,698...15,660,103
Ensembl chr16:15,455,730...15,660,099 		JBrowse link
G Ptprc protein tyrosine phosphatase receptor type C ISO DNA:deletion
ClinVar Annotator: match by term: Severe combined immunodeficiency disease		 ClinVar
RGD		 PMID:11145714 RGD:1599983 NCBI chr 1:137,990,601...138,103,491
Ensembl chr 1:137,990,599...138,103,446 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 PMID:28492532 PMID:30723080 NCBI chr15:78,443,369...78,456,983
Ensembl chr15:78,443,367...78,456,983 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease
Omenn syndrome, OMIM:179615		 ClinVar
RGD		 PMID:290284 PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 More... RGD:1599402, RGD:7204134, RGD:7204131, RGD:1599403 NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		JBrowse link
G Rag2 recombination activating gene 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar
RGD		 PMID:15025726 PMID:18463379 PMID:20603253 PMID:21131235 PMID:21624848 More... RGD:1599402, RGD:38508903 NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874 		JBrowse link
G Rfx5 regulatory factor X, 5 (influences HLA class II expression) ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:7744245 PMID:9401005 RGD:1599743, RGD:1599742 NCBI chr 3:94,861,355...94,868,685
Ensembl chr 3:94,861,386...94,868,872 		JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar
RGD		 PMID:9806546 PMID:10803838 PMID:16166641 PMID:21908431 PMID:25741868 More... RGD:1599746 NCBI chr 8:70,583,456...70,591,847
Ensembl chr 8:70,583,444...70,591,804 		JBrowse link
G Rfxap regulatory factor X-associated protein ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:54,710,536...54,715,212
Ensembl chr 3:54,710,536...54,715,212 		JBrowse link
G Stk4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 2:163,916,033...163,997,444
Ensembl chr 2:163,912,242...163,997,444 		JBrowse link
G Tapbp TAP binding protein ISO type I bare lymphocyte syndrome, OMIM:604571 RGD PMID:12149238 RGD:1599296 NCBI chr17:34,138,452...34,148,264
Ensembl chr17:34,134,873...34,148,266 		JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642240 NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612 		JBrowse link
G Ttc7 tetratricopeptide repeat domain 7 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr17:87,590,328...87,689,197
Ensembl chr17:87,590,314...87,689,197 		JBrowse link
G Vdac2 voltage-dependent anion channel 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chr14:21,881,629...21,895,947
Ensembl chr14:21,875,306...21,895,947 		JBrowse link
G Zap70 zeta-chain (TCR) associated protein kinase ISO selective T-cell defect, OMIM:176947
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8202713 PMID:28492532 PMID:33184721 PMID:35503492 PMID:8124727 RGD:1599880 NCBI chr 1:36,800,912...36,821,899
Ensembl chr 1:36,800,879...36,821,899 		JBrowse link
G Zbtb25 zinc finger and BTB domain containing 25 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr12:76,387,168...76,416,988
Ensembl chr12:76,394,556...76,416,376 		JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 OMIM
ClinVar
CTD		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Cd3g CD3 antigen, gamma polypeptide ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr 9:44,880,870...44,891,729
Ensembl chr 9:44,880,870...44,891,729 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:14722525 PMID:16199547 PMID:18060736 PMID:19776401 PMID:24033266 More... NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G LOC107372314 adenosine deaminase intronic regulatory elements ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:1696926 PMID:3366897 PMID:3684597 PMID:7599635 PMID:8031011 More... NCBI chr 2:163,577,759...163,588,199 JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 ClinVar PMID:8810255 PMID:9630231 PMID:10635319 PMID:10891452 PMID:11121059 More... NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:11782540 PMID:16818505 PMID:17606709 PMID:20407015 PMID:21343334 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
CD3epsilon deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,184,485...44,199,953
Ensembl chr 9:44,184,485...44,199,912 		JBrowse link
G Apoa1 apolipoprotein A-I ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G Apoa4 apolipoprotein A-IV ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757 		JBrowse link
G Apoc3 apolipoprotein C-III ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,653,440...44,679,105
Ensembl chr 9:44,652,861...44,679,142 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:42,875,138...43,017,069
Ensembl chr 9:42,875,138...43,018,534 		JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,824,546...44,832,470
Ensembl chr 9:44,823,855...44,832,040 		JBrowse link
G Bace1 beta-site APP cleaving enzyme 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,749,878...45,775,694
Ensembl chr 9:45,749,878...45,775,697 		JBrowse link
G Bcl9l B cell CLL/lymphoma 9-like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,394,103...44,423,203
Ensembl chr 9:44,394,122...44,423,193 		JBrowse link
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		JBrowse link
G C2cd2l C2 calcium-dependent domain containing 2-like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,220,534...44,231,579
Ensembl chr 9:44,220,534...44,231,582 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,151,961...44,158,240
Ensembl chr 9:44,151,973...44,158,603 		JBrowse link
G Cd3d CD3 antigen, delta polypeptide ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,893,067...44,898,350
Ensembl chr 9:44,893,084...44,898,637 		JBrowse link
G Cd3e CD3 antigen, epsilon polypeptide ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,910,033...44,920,961
Ensembl chr 9:44,910,038...44,920,925 		JBrowse link
G Cd3g CD3 antigen, gamma polypeptide ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,880,870...44,891,729
Ensembl chr 9:44,880,870...44,891,729 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,321,456...44,329,390
Ensembl chr 9:44,321,456...44,329,866 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,678,244...45,739,984
Ensembl chr 9:45,678,244...45,739,989 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,423,084...44,437,741
Ensembl chr 9:44,423,084...44,473,174 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,514,113...44,552,028
Ensembl chr 9:44,516,189...44,552,028 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,237,314...44,247,374
Ensembl chr 9:44,237,316...44,245,197 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,338,735...45,665,011
Ensembl chr 9:45,337,926...45,665,010 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,345,531...44,352,165
Ensembl chr 9:44,345,070...44,352,433 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,311,007...45,321,576
Ensembl chr 9:45,310,967...45,321,576 		JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,280,768...45,307,457
Ensembl chr 9:45,281,483...45,307,457 		JBrowse link
G Grik4 glutamate receptor, ionotropic, kainate 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:42,431,708...42,856,296
Ensembl chr 9:42,429,431...42,855,789 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,201,509...44,217,003
Ensembl chr 9:44,203,737...44,216,968 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,290,840...44,303,662
Ensembl chr 9:44,290,787...44,303,666 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,683,074...44,704,011
Ensembl chr 9:44,679,205...44,704,744 		JBrowse link
G Il10ra interleukin 10 receptor, alpha ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,165,135...45,180,447
Ensembl chr 9:45,165,135...45,180,447 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,990,451...45,019,829
Ensembl chr 9:44,990,481...45,019,832 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,045,958...44,054,024
Ensembl chr 9:44,045,766...44,054,024 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,951,595...44,965,341
Ensembl chr 9:44,951,097...44,965,313 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,966,479...44,988,735
Ensembl chr 9:44,966,484...44,988,734 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,158,609...44,162,761
Ensembl chr 9:44,158,604...44,162,768 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,164,010...44,179,896
Ensembl chr 9:44,164,014...44,179,896 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:43,132,575...43,151,113
Ensembl chr 9:43,132,532...43,151,208 		JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase, isoform 1b, subunit 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,876,609...45,923,988
Ensembl chr 9:45,874,157...45,923,988 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,817,745...45,843,405
Ensembl chr 9:45,817,795...45,841,024 		JBrowse link
G Phldb1 pleckstrin homology like domain, family B, member 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,597,605...44,649,800
Ensembl chr 9:44,597,601...44,646,495 		JBrowse link
G Pou2f3 POU domain, class 2, transcription factor 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:43,035,222...43,117,052
Ensembl chr 9:43,035,234...43,121,666 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,768,067...45,818,209
Ensembl chr 9:45,774,723...45,818,209 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,022,078...44,024,348
Ensembl chr 9:44,006,928...44,024,814
Ensembl chr 9:44,006,928...44,024,814 		JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,319,011...44,321,703
Ensembl chr 9:44,318,436...44,321,724 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:42,162,888...42,175,607
Ensembl chr 9:42,162,891...42,175,552 		JBrowse link
G Scn2b sodium channel, voltage-gated, type II, beta ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,029,174...45,041,368
Ensembl chr 9:45,029,080...45,041,368 		JBrowse link
G Scn4b sodium channel, type IV, beta ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,049,922...45,065,453
Ensembl chr 9:45,049,693...45,065,450 		JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,849,155...45,869,299
Ensembl chr 9:45,849,155...45,866,556 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,924,099...46,135,492
Ensembl chr 9:45,924,118...46,135,492 		JBrowse link
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,308,243...44,314,263
Ensembl chr 9:44,308,149...44,314,265 		JBrowse link
G Sorl1 sortilin-related receptor, LDLR class A repeats-containing ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:41,876,005...42,035,593
Ensembl chr 9:41,876,016...42,035,593 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,840,926...45,847,356
Ensembl chr 9:45,840,917...45,847,356 		JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:42,323,612...42,383,534
Ensembl chr 9:42,323,612...42,419,105 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Thy1 thymus cell antigen 1, theta ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:43,954,681...43,959,876
Ensembl chr 9:43,954,681...43,959,876 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:43,019,945...43,028,000
Ensembl chr 9:43,019,945...43,027,865 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,705,069...44,710,821
Ensembl chr 9:44,705,066...44,710,604 		JBrowse link
G Tmprss13 transmembrane protease, serine 13 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,230,286...45,258,879
Ensembl chr 9:45,230,398...45,258,879 		JBrowse link
G Tmprss4 transmembrane protease, serine 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,084,024...45,115,417
Ensembl chr 9:45,084,024...45,115,390 		JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,315,057...44,318,629
Ensembl chr 9:44,314,995...44,318,897 		JBrowse link
G Treh trehalase (brush-border membrane glycoprotein) ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,584,530...44,597,602
Ensembl chr 9:44,584,530...44,597,602 		JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:43,222,012...43,247,422
Ensembl chr 9:43,222,145...43,247,412 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,710,697...44,714,248
Ensembl chr 9:44,710,694...44,714,369 		JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,834,425...44,877,021
Ensembl chr 9:44,834,425...44,876,898 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,364,012...44,366,064
Ensembl chr 9:44,364,012...44,366,273 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:43,978,318...44,006,924
Ensembl chr 9:43,978,318...44,006,924 		JBrowse link
G Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,259,046...44,272,970
Ensembl chr 9:44,259,046...44,272,967 		JBrowse link
coronin-1A deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930451I11Rik RIKEN cDNA 4930451I11 gene ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,429,640...126,430,712
Ensembl chr 7:126,429,640...126,430,811 		JBrowse link
G Aldoa aldolase A, fructose-bisphosphate ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 7:126,394,406...126,399,537
Ensembl chr 7:126,394,406...126,399,923 		JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,545,159...126,548,754
Ensembl chr 7:126,544,739...126,548,754 		JBrowse link
G Bcor BCL6 interacting corepressor ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:24728327 PMID:25073507 PMID:26694549 PMID:28492532 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		JBrowse link
G Bola2 bolA family member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:126,295,172...126,295,865
Ensembl chr 7:126,294,573...126,298,970 		JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,575,630...126,579,671
Ensembl chr 7:126,575,086...126,579,673 		JBrowse link
G Coro1a coronin, actin binding protein 1A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18836449 PMID:19097825 More... NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959 		JBrowse link
G Doc2a double C2, alpha ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,446,525...126,451,877
Ensembl chr 7:126,446,588...126,451,877 		JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 More... NCBI chr 7:126,365,586...126,374,817
Ensembl chr 7:126,365,506...126,374,821 		JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,461,155...126,464,549
Ensembl chr 7:126,461,144...126,464,549 		JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,450,756...126,461,544
Ensembl chr 7:126,450,132...126,461,549 		JBrowse link
G Kctd13 potassium channel tetramerisation domain containing 13 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,528,051...126,544,781
Ensembl chr 7:126,528,051...126,544,803 		JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643 		JBrowse link
G Lrba LPS-responsive beige-like anchor ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:16199547 PMID:25741868 PMID:26206937 PMID:26768763 PMID:28492532 NCBI chr 3:86,130,763...86,690,001
Ensembl chr 3:86,131,987...86,689,999 		JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 More... NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991 		JBrowse link
G Maz MYC-associated zinc finger protein (purine-binding transcription factor) ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,621,306...126,626,177
Ensembl chr 7:126,621,302...126,626,209 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:17823972 PMID:25073507 PMID:28492532 NCBI chr 7:64,042,370...64,061,869
Ensembl chr 7:64,042,355...64,061,873 		JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,586,036...126,613,729
Ensembl chr 7:126,586,032...126,613,793 		JBrowse link
G Pagr1a PAXIP1 associated glutamate rich protein 1A ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,614,223...126,616,524
Ensembl chr 7:126,614,205...126,616,524
Ensembl chr 7:126,614,205...126,616,524 		JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 More... NCBI chr 7:126,385,038...126,391,729
Ensembl chr 7:126,385,038...126,391,668 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383 		JBrowse link
G Rhoh ras homolog family member H ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:66,018,092...66,054,043
Ensembl chr 5:66,018,556...66,054,043 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,549,665...126,569,782
Ensembl chr 7:126,549,735...126,569,778 		JBrowse link
G Slx1b SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION ClinVar PMID:28492532 NCBI chr 7:126,288,099...126,294,955
Ensembl chr 7:126,288,640...126,294,956 		JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,464,848...126,485,468
Ensembl chr 7:126,464,850...126,483,875 		JBrowse link
G Tbx6 T-box 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 More... NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,413,213...126,429,391
Ensembl chr 7:126,396,840...126,429,391 		JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 7:126,485,391...126,527,993
Ensembl chr 7:126,485,343...126,522,089 		JBrowse link
G Ypel3 yippee like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 More... NCBI chr 7:126,376,135...126,379,682
Ensembl chr 7:126,376,127...126,379,686 		JBrowse link
immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526 		JBrowse link
Immunodeficiency 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd3d CD3 antigen, delta polypeptide ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:44,893,067...44,898,350
Ensembl chr 9:44,893,084...44,898,637 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: IL7R-related condition | ClinVar Annotator: match by term: Immunodeficiency 104 OMIM
ClinVar		 PMID:9536098 PMID:9843216 PMID:10899029 PMID:11023514 PMID:15615257 More... NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262 		JBrowse link
G Ptprc protein tyrosine phosphatase receptor type C ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:7621884 PMID:9536098 PMID:10700239 PMID:11101853 PMID:11528386 More... NCBI chr 1:137,990,601...138,103,491
Ensembl chr 1:137,990,599...138,103,446 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		JBrowse link
G Rag2 recombination activating gene 2 ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:20603253 PMID:21131235 PMID:24481607 PMID:25741868 PMID:26476733 More... NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874 		JBrowse link
Immunodeficiency 105 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprc protein tyrosine phosphatase receptor type C ISO ClinVar Annotator: match by term: Immunodeficiency 105 OMIM
ClinVar		 PMID:7621884 PMID:9068311 PMID:10700239 PMID:11101853 PMID:11145714 More... NCBI chr 1:137,990,601...138,103,491
Ensembl chr 1:137,990,599...138,103,446 		JBrowse link
immunodeficiency 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amz1 archaelysin family metallopeptidase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:28492532 NCBI chr 5:140,709,882...140,739,067
Ensembl chr 5:140,709,882...140,747,194 		JBrowse link
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:28492532 NCBI chr 5:140,688,222...140,705,134
Ensembl chr 5:140,690,766...140,705,134 		JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18323416 PMID:23027925 More... NCBI chr 5:140,858,109...140,986,398
Ensembl chr 5:140,858,745...140,986,337 		JBrowse link
G Gna12 guanine nucleotide binding protein, alpha 12 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:28492532 NCBI chr 5:140,745,699...140,816,186
Ensembl chr 5:140,744,163...140,816,186 		JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:28492532 NCBI chr 5:140,648,308...140,688,158
Ensembl chr 5:140,647,582...140,688,133 		JBrowse link
G Ttyh3 tweety family member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:28492532 NCBI chr 5:140,606,332...140,634,826
Ensembl chr 5:140,606,333...140,634,786 		JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1, erythroid ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:23,464,852...23,640,517
Ensembl chr 8:23,464,860...23,640,513 		JBrowse link
G Ap3m2 adaptor-related protein complex 3, mu 2 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:23,277,370...23,297,308
Ensembl chr 8:23,277,370...23,295,638 		JBrowse link
G Chrna6 cholinergic receptor, nicotinic, alpha polypeptide 6 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:27,893,240...27,903,972
Ensembl chr 8:27,893,240...27,903,972 		JBrowse link
G Chrnb3 cholinergic receptor, nicotinic, beta polypeptide 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:27,858,688...27,889,758
Ensembl chr 8:27,858,739...27,889,758 		JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:23,113,701...23,117,563
Ensembl chr 8:23,114,059...23,117,563 		JBrowse link
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:26,488,716...26,505,638
Ensembl chr 8:26,488,750...26,505,678 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:26,432,495...26,466,704
Ensembl chr 8:26,434,481...26,466,781 		JBrowse link
G Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:26,511,449...26,609,646
Ensembl chr 8:26,511,449...26,609,252 		JBrowse link
G Ikbkb inhibitor of kappaB kinase beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10195897 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 8:23,149,228...23,196,605
Ensembl chr 8:23,149,228...23,196,605 		JBrowse link
G Kat6a K(lysine) acetyltransferase 6A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275 		JBrowse link
G Plat plasminogen activator, tissue ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Polb polymerase (DNA directed), beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:23,118,135...23,143,482
Ensembl chr 8:23,118,142...23,143,451 		JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:26,470,632...26,484,149
Ensembl chr 8:26,470,632...26,484,161 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:26,609,396...26,633,903
Ensembl chr 8:26,609,396...26,641,818 		JBrowse link
G Slc20a2 solute carrier family 20, member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:22,966,771...23,059,632
Ensembl chr 8:22,966,804...23,059,628 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:22,952,630...22,966,850
Ensembl chr 8:22,952,630...22,966,898 		JBrowse link
G Thap1 THAP domain containing, apoptosis associated protein 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:26,648,197...26,654,179
Ensembl chr 8:26,648,169...26,654,179 		JBrowse link
G Vdac3 voltage-dependent anion channel 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:23,067,091...23,083,829
Ensembl chr 8:23,067,102...23,083,774 		JBrowse link
immunodeficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,184,485...44,199,953
Ensembl chr 9:44,184,485...44,199,912 		JBrowse link
G Apoa1 apolipoprotein A-I ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G Apoa4 apolipoprotein A-IV ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757 		JBrowse link
G Apoc3 apolipoprotein C-III ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,653,440...44,679,105
Ensembl chr 9:44,652,861...44,679,142 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:42,875,138...43,017,069
Ensembl chr 9:42,875,138...43,018,534 		JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,824,546...44,832,470
Ensembl chr 9:44,823,855...44,832,040 		JBrowse link
G Bace1 beta-site APP cleaving enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,749,878...45,775,694
Ensembl chr 9:45,749,878...45,775,697 		JBrowse link
G Bcl9l B cell CLL/lymphoma 9-like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,394,103...44,423,203
Ensembl chr 9:44,394,122...44,423,193 		JBrowse link
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		JBrowse link
G C2cd2l C2 calcium-dependent domain containing 2-like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,220,534...44,231,579
Ensembl chr 9:44,220,534...44,231,582 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,151,961...44,158,240
Ensembl chr 9:44,151,973...44,158,603 		JBrowse link
G Cd3d CD3 antigen, delta polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 19		 OMIM
CTD
ClinVar		 PMID:1635567 PMID:8490660 PMID:9536098 PMID:10935641 PMID:14602880 More... NCBI chr 9:44,893,067...44,898,350
Ensembl chr 9:44,893,084...44,898,637 		JBrowse link
G Cd3e CD3 antigen, epsilon polypeptide ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,910,033...44,920,961
Ensembl chr 9:44,910,038...44,920,925 		JBrowse link
G Cd3g CD3 antigen, gamma polypeptide ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,880,870...44,891,729
Ensembl chr 9:44,880,870...44,891,729 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,321,456...44,329,390
Ensembl chr 9:44,321,456...44,329,866 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,678,244...45,739,984
Ensembl chr 9:45,678,244...45,739,989 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,423,084...44,437,741
Ensembl chr 9:44,423,084...44,473,174 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,514,113...44,552,028
Ensembl chr 9:44,516,189...44,552,028 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,237,314...44,247,374
Ensembl chr 9:44,237,316...44,245,197 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,338,735...45,665,011
Ensembl chr 9:45,337,926...45,665,010 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,345,531...44,352,165
Ensembl chr 9:44,345,070...44,352,433 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,311,007...45,321,576
Ensembl chr 9:45,310,967...45,321,576 		JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,280,768...45,307,457
Ensembl chr 9:45,281,483...45,307,457 		JBrowse link
G Grik4 glutamate receptor, ionotropic, kainate 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:42,431,708...42,856,296
Ensembl chr 9:42,429,431...42,855,789 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,201,509...44,217,003
Ensembl chr 9:44,203,737...44,216,968 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,290,840...44,303,662
Ensembl chr 9:44,290,787...44,303,666 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,683,074...44,704,011
Ensembl chr 9:44,679,205...44,704,744 		JBrowse link
G Il10ra interleukin 10 receptor, alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,165,135...45,180,447
Ensembl chr 9:45,165,135...45,180,447 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,990,451...45,019,829
Ensembl chr 9:44,990,481...45,019,832 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,045,958...44,054,024
Ensembl chr 9:44,045,766...44,054,024 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,951,595...44,965,341
Ensembl chr 9:44,951,097...44,965,313 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,966,479...44,988,735
Ensembl chr 9:44,966,484...44,988,734 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,158,609...44,162,761
Ensembl chr 9:44,158,604...44,162,768 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,164,010...44,179,896
Ensembl chr 9:44,164,014...44,179,896 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:43,132,575...43,151,113
Ensembl chr 9:43,132,532...43,151,208 		JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase, isoform 1b, subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,876,609...45,923,988
Ensembl chr 9:45,874,157...45,923,988 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,817,745...45,843,405
Ensembl chr 9:45,817,795...45,841,024 		JBrowse link
G Phldb1 pleckstrin homology like domain, family B, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,597,605...44,649,800
Ensembl chr 9:44,597,601...44,646,495 		JBrowse link
G Pou2f3 POU domain, class 2, transcription factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:43,035,222...43,117,052
Ensembl chr 9:43,035,234...43,121,666 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,768,067...45,818,209
Ensembl chr 9:45,774,723...45,818,209 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,022,078...44,024,348
Ensembl chr 9:44,006,928...44,024,814
Ensembl chr 9:44,006,928...44,024,814 		JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,319,011...44,321,703
Ensembl chr 9:44,318,436...44,321,724 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:42,162,888...42,175,607
Ensembl chr 9:42,162,891...42,175,552 		JBrowse link
G Scn2b sodium channel, voltage-gated, type II, beta ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,029,174...45,041,368
Ensembl chr 9:45,029,080...45,041,368 		JBrowse link
G Scn4b sodium channel, type IV, beta ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,049,922...45,065,453
Ensembl chr 9:45,049,693...45,065,450 		JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,849,155...45,869,299
Ensembl chr 9:45,849,155...45,866,556 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,924,099...46,135,492
Ensembl chr 9:45,924,118...46,135,492 		JBrowse link
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,308,243...44,314,263
Ensembl chr 9:44,308,149...44,314,265 		JBrowse link
G Sorl1 sortilin-related receptor, LDLR class A repeats-containing ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:41,876,005...42,035,593
Ensembl chr 9:41,876,016...42,035,593 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,840,926...45,847,356
Ensembl chr 9:45,840,917...45,847,356 		JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:42,323,612...42,383,534
Ensembl chr 9:42,323,612...42,419,105 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Thy1 thymus cell antigen 1, theta ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:43,954,681...43,959,876
Ensembl chr 9:43,954,681...43,959,876 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:43,019,945...43,028,000
Ensembl chr 9:43,019,945...43,027,865 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,705,069...44,710,821
Ensembl chr 9:44,705,066...44,710,604 		JBrowse link
G Tmprss13 transmembrane protease, serine 13 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,230,286...45,258,879
Ensembl chr 9:45,230,398...45,258,879 		JBrowse link
G Tmprss4 transmembrane protease, serine 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,084,024...45,115,417
Ensembl chr 9:45,084,024...45,115,390 		JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,315,057...44,318,629
Ensembl chr 9:44,314,995...44,318,897 		JBrowse link
G Treh trehalase (brush-border membrane glycoprotein) ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,584,530...44,597,602
Ensembl chr 9:44,584,530...44,597,602 		JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:43,222,012...43,247,422
Ensembl chr 9:43,222,145...43,247,412 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,710,697...44,714,248
Ensembl chr 9:44,710,694...44,714,369 		JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,834,425...44,877,021
Ensembl chr 9:44,834,425...44,876,898 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,364,012...44,366,064
Ensembl chr 9:44,364,012...44,366,273 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:43,978,318...44,006,924
Ensembl chr 9:43,978,318...44,006,924 		JBrowse link
G Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:44,259,046...44,272,970
Ensembl chr 9:44,259,046...44,272,967 		JBrowse link
immunodeficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lck lymphocyte protein tyrosine kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22985903 PMID:25741868 More... NCBI chr 4:129,442,142...129,467,415
Ensembl chr 4:129,442,137...129,467,434 		JBrowse link
immunodeficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctps1 cytidine 5'-triphosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24870241 More... NCBI chr 4:120,397,065...120,427,473
Ensembl chr 4:120,397,065...120,427,473 		JBrowse link
G Scmh1 sex comb on midleg homolog 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 4:120,262,347...120,387,397
Ensembl chr 4:120,262,478...120,387,383 		JBrowse link
G Slfnl1 schlafen like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 4:120,389,446...120,393,858
Ensembl chr 4:120,389,428...120,393,858 		JBrowse link
immunodeficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clxn calaxin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr16:14,724,315...14,786,925
Ensembl chr16:14,724,470...14,799,235 		JBrowse link
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr16:15,441,761...15,455,264
Ensembl chr16:15,441,761...15,455,264 		JBrowse link
G Prkdc protein kinase, DNA activated, catalytic polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19075392 PMID:23722905 More... NCBI chr16:15,455,698...15,660,103
Ensembl chr16:15,455,730...15,660,099 		JBrowse link
G Snai2 snail family zinc finger 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr16:14,523,716...14,527,259
Ensembl chr16:14,523,716...14,527,249 		JBrowse link
G Ube2v2 ubiquitin-conjugating enzyme E2 variant 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr16:15,368,850...15,412,382
Ensembl chr16:15,369,941...15,413,637 		JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta-chain (TCR) associated protein kinase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: Immunodeficiency 48 | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8124727 PMID:8202712 PMID:8202713 PMID:9536098 PMID:10574909 More... NCBI chr 1:36,800,912...36,821,899
Ensembl chr 1:36,800,879...36,821,899 		JBrowse link
immunodeficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orai1 ORAI calcium release-activated calcium modulator 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7531512 PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 More... NCBI chr 5:123,153,078...123,168,515
Ensembl chr 5:123,153,137...123,168,519 		JBrowse link
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Extl3 exostosin-like glycosyltransferase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28132690 PMID:28148688 PMID:28492532 NCBI chr14:65,289,508...65,387,322
Ensembl chr14:65,289,509...65,387,304 		JBrowse link
MHC class I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb8 proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7) ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr17:34,417,169...34,420,428
Ensembl chr17:34,416,695...34,420,428 		JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1570316 PMID:3891604 PMID:8640228 PMID:9536098 PMID:10074494 More... NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199 		JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency		 OMIM
CTD
ClinVar		 PMID:1570316 PMID:7517574 PMID:9536098 PMID:10560675 PMID:11529920 More... NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295 		JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12149238 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr17:34,138,452...34,148,264
Ensembl chr17:34,134,873...34,148,266 		JBrowse link
MHC class II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933434E20Rik RIKEN cDNA 4933434E20 gene ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648 		JBrowse link
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:8,331,293...8,439,432
Ensembl chr16:8,331,293...8,439,432 		JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,246,947...89,257,589
Ensembl chr 3:89,245,849...89,257,303 		JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		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 3:95,836,557...95,854,699
Ensembl chr 3:95,836,558...95,854,702 		JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,203,404...95,222,491
Ensembl chr 3:95,203,407...95,214,487 		JBrowse link
G Aph1a aph1 homolog A, gamma secretase subunit ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,801,233...95,805,904
Ensembl chr 3:95,801,281...95,805,600 		JBrowse link
G Aqp10-ps aquaporin 10, pseudogene ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,870,751...89,877,041
Ensembl chr 3:89,872,016...89,875,998 		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 3:88,500,427...88,556,839
Ensembl chr 3:88,513,273...88,555,359 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,857,721...88,986,682
Ensembl chr 3:88,857,929...88,986,682 		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 chr16:10,010,513...10,068,595
Ensembl chr16:10,010,576...10,069,342 		JBrowse link
G Atp8b2 ATPase, class I, type 8B, member 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,846,795...89,870,645
Ensembl chr 3:89,846,788...89,870,815 		JBrowse link
G BC028528 cDNA sequence BC028528 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,789,665...95,800,186
Ensembl chr 3:95,791,266...95,799,317 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537 		JBrowse link
G Bglap bone gamma carboxyglutamate protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		JBrowse link
G Bnipl BCL2/adenovirus E1B 19kD interacting protein like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,148,587...95,158,504
Ensembl chr 3:95,148,582...95,158,504 		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 3:94,269,720...94,271,874
Ensembl chr 3:94,269,745...94,271,873 		JBrowse link
G Car14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,805,080...95,812,443
Ensembl chr 3:95,805,080...95,812,003 		JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:8,476,444...8,490,017
Ensembl chr16:8,476,444...8,490,019 		JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,204,442...88,229,073
Ensembl chr 3:88,204,423...88,229,074 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,135,735...95,143,735
Ensembl chr 3:95,136,043...95,143,720 		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 3:94,385,581...94,405,822
Ensembl chr 3:94,385,602...94,399,505 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,222,077...95,230,910
Ensembl chr 3:95,222,102...95,230,910 		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 3:89,970,115...89,975,654
Ensembl chr 3:89,970,103...89,973,182 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,667,376...94,695,036
Ensembl chr 3:94,667,376...94,693,826 		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 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805 		JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,785,812...95,790,012
Ensembl chr 3:95,785,815...95,789,563 		JBrowse link
G Ciita class II transactivator severity ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
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)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:8402893 PMID:9099848 PMID:9536098 PMID:11704716 PMID:11862382 More... RGD:1600188, RGD:5491200 NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282 		JBrowse link
G Cks1b CDC28 protein kinase 1b ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,322,779...89,325,598
Ensembl chr 3:89,322,779...89,325,690 		JBrowse link
G Clec16a C-type lectin domain family 16, member A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742 		JBrowse link
G Clk2 CDC-like kinase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,072,102...89,084,394
Ensembl chr 3:89,072,102...89,084,228 		JBrowse link
G Crabp2 cellular retinoic acid binding protein II ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,856,000...87,860,679
Ensembl chr 3:87,855,973...87,860,683 		JBrowse link
G Crct1 cysteine-rich C-terminal 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,921,512...92,922,993
Ensembl chr 3:92,921,512...92,922,994 		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 3:90,144,805...90,161,387
Ensembl chr 3:90,144,807...90,150,819 		JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:93,052,096...93,057,125
Ensembl chr 3:93,052,094...93,057,126 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,161,475...90,171,432
Ensembl chr 3:90,161,470...90,171,432 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714 		JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,828,110...88,858,504
Ensembl chr 3:88,828,110...88,858,488 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,257,526...89,272,560
Ensembl chr 3:89,257,526...89,272,560 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,257,724...89,284,950
Ensembl chr 3:89,269,282...89,284,856 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,172,281...90,187,972
Ensembl chr 3:90,172,492...90,187,976 		JBrowse link
G Dexi dexamethasone-induced transcript ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:10,348,071...10,360,918
Ensembl chr16:10,320,395...10,360,918 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase polypeptide 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,166,567...89,174,386
Ensembl chr 3:89,166,665...89,174,386 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,641,459...95,646,880
Ensembl chr 3:95,641,459...95,646,881 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,179,037...89,188,258
Ensembl chr 3:89,179,040...89,188,449 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,221,200...89,231,359
Ensembl chr 3:89,221,206...89,230,272 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,240,700...89,245,335
Ensembl chr 3:89,240,697...89,245,335 		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 chr16:10,099,613...10,131,832
Ensembl chr16:10,099,613...10,131,832 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,532,291...95,539,428
Ensembl chr 3:95,532,304...95,539,413 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,089,996...89,096,598
Ensembl chr 3:89,090,450...89,096,602 		JBrowse link
G Fdps farnesyl diphosphate synthetase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,000,895...89,009,274
Ensembl chr 3:89,000,895...89,009,266 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,309,980...89,319,188
Ensembl chr 3:89,308,311...89,319,177 		JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993 		JBrowse link
G Flg2 filaggrin family member 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:93,104,585...93,128,701
Ensembl chr 3:93,104,585...93,128,698 		JBrowse link
G Gabpb2 GA repeat binding protein, beta 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,089,077...95,125,291
Ensembl chr 3:95,089,077...95,125,227 		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 3:90,200,488...90,270,712
Ensembl chr 3:90,200,485...90,270,714 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,232,330...88,235,938
Ensembl chr 3:88,232,330...88,238,620 		JBrowse link
G Gm128 predicted gene 128 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,144,230...95,148,946
Ensembl chr 3:95,144,231...95,148,909 		JBrowse link
G Gm3764 predicted gene 3764 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,113,980...88,137,266
Ensembl chr 3:88,113,837...88,137,268 		JBrowse link
G Golph3l golgi phosphoprotein 3-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,496,280...95,526,553
Ensembl chr 3:95,496,245...95,526,553 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,742,531...88,817,406
Ensembl chr 3:88,742,535...88,817,410 		JBrowse link
G Gpatch4 G patch domain containing 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,950,413...87,963,301
Ensembl chr 3:87,950,415...87,963,300 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		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 3:87,927,865...87,934,818
Ensembl chr 3:87,929,057...87,934,890 		JBrowse link
G Hapstr1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:8,647,964...8,676,788
Ensembl chr16:8,647,964...8,676,786 		JBrowse link
G Hax1 HCLS1 associated X-1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,902,753...89,906,023
Ensembl chr 3:89,902,753...89,906,087 		JBrowse link
G Hcn3 hyperpolarization-activated, cyclic nucleotide-gated K+ 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,054,082...89,067,538
Ensembl chr 3:89,053,381...89,067,503 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,813,844...87,823,439
Ensembl chr 3:87,813,628...87,823,439 		JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,466,988...95,495,174
Ensembl chr 3:95,466,988...95,494,982 		JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:93,227,056...93,240,879
Ensembl chr 3:93,227,056...93,240,877 		JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,383,421...90,395,686
Ensembl chr 3:90,383,433...90,395,686 		JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,298,691...90,340,800
Ensembl chr 3:90,298,695...90,340,929 		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 3:87,989,309...88,028,355
Ensembl chr 3:87,989,278...88,028,355 		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 3:87,837,602...87,847,994
Ensembl chr 3:87,837,621...87,847,993 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,478,206...92,481,097
Ensembl chr 3:92,478,209...92,481,042 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,138,904...90,143,147
Ensembl chr 3:90,138,904...90,143,145 		JBrowse link
G Kcnn3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,427,471...89,579,801
Ensembl chr 3:89,427,471...89,582,439 		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 3:88,593,087...88,620,240
Ensembl chr 3:88,593,110...88,620,231 		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 3:92,775,666...92,777,512
Ensembl chr 3:92,775,666...92,777,523 		JBrowse link
G Kprp keratinocyte expressed, proline-rich ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,730,381...92,734,554
Ensembl chr 3:92,730,381...92,734,554 		JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,153,201...89,157,036
Ensembl chr 3:89,153,273...89,157,213 		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 3:88,457,126...88,460,258
Ensembl chr 3:88,457,126...88,460,381 		JBrowse link
G Lce1b late cornified envelope 1B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,562,957...92,564,233
Ensembl chr 3:92,562,957...92,564,233 		JBrowse link
G Lce1c late cornified envelope 1C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,586,554...92,588,225
Ensembl chr 3:92,586,554...92,588,225 		JBrowse link
G Lce1d late cornified envelope 1D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,592,806...92,594,517
Ensembl chr 3:92,592,806...92,594,517 		JBrowse link
G Lce1e late cornified envelope 1E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,614,707...92,616,381
Ensembl chr 3:92,614,708...92,616,381 		JBrowse link
G Lce1f late cornified envelope 1F ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,626,003...92,627,657
Ensembl chr 3:92,625,992...92,627,657 		JBrowse link
G Lce1m late cornified envelope 1M ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,925,114...92,926,368
Ensembl chr 3:92,925,117...92,926,367 		JBrowse link
G Lce3c late cornified envelope 3C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,851,793...92,853,038
Ensembl chr 3:92,851,793...92,853,040 		JBrowse link
G Lce3d late cornified envelope 3D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,864,695...92,865,881
Ensembl chr 3:92,864,697...92,865,812 		JBrowse link
G Lce3e late cornified envelope 3E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,874,368...92,875,588
Ensembl chr 3:92,874,368...92,875,588 		JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,512,128...92,528,975
Ensembl chr 3:92,527,388...92,528,967 		JBrowse link
G Lelp1 late cornified envelope-like proline-rich 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,042,301...92,050,061
Ensembl chr 3:92,042,304...92,050,051 		JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,309,203...89,309,957
Ensembl chr 3:89,308,295...89,310,100 		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 3:94,306,526...94,311,820
Ensembl chr 3:94,305,824...94,311,808 		JBrowse link
G Litaf LPS-induced TN factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:10,777,137...10,810,985
Ensembl chr16:10,777,139...10,884,021 		JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:91,987,578...91,990,447
Ensembl chr 3:91,987,578...91,990,449 		JBrowse link
G Lysmd1 LysM, putative peptidoglycan-binding, domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,041,399...95,046,836
Ensembl chr 3:95,041,399...95,046,829 		JBrowse link
G Mcl1 myeloid cell leukemia sequence 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,564,017...95,583,553
Ensembl chr 3:95,566,099...95,570,487 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,049,248...88,079,398
Ensembl chr 3:88,049,679...88,079,393 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,829,908...87,838,337
Ensembl chr 3:87,829,908...87,838,024 		JBrowse link
G Mex3a mex3 RNA binding family member A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,439,253...88,448,701
Ensembl chr 3:88,439,702...88,448,703 		JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,189,237...95,203,477
Ensembl chr 3:95,188,656...95,203,477 		JBrowse link
G Mir9-1 microRNA 9-1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,122,905...88,122,993
Ensembl chr 3:88,122,905...88,122,993 		JBrowse link
G Mllt11 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,125,852...95,139,486
Ensembl chr 3:95,126,446...95,139,482 		JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,825,438...87,830,757
Ensembl chr 3:87,826,813...87,830,979 		JBrowse link
G Mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,350,631...94,355,831
Ensembl chr 3:94,350,625...94,358,437 		JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,769,946...95,778,826
Ensembl chr 3:95,769,946...95,778,831 		JBrowse link
G Msto1 misato 1, mitochondrial distribution and morphology regulator ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,816,923...88,821,257
Ensembl chr 3:88,812,414...88,821,306 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:96,069,287...96,079,034
Ensembl chr 3:96,069,321...96,079,034 		JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,116,388...89,121,214
Ensembl chr 3:89,116,388...89,134,395 		JBrowse link
G Muc1 mucin 1, transmembrane ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,963,827...87,965,851
Ensembl chr 3:87,963,827...87,965,802 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,357,898...90,373,235
Ensembl chr 3:90,357,898...90,373,173 		JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:25741868 PMID:25741916 PMID:28492532 NCBI chr 8:70,583,977...70,586,402
Ensembl chr 8:70,583,983...70,586,399 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Nubp1 nucleotide binding protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chr16:10,229,802...10,242,317
Ensembl chr16:10,229,812...10,242,292 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,011,445...90,119,458
Ensembl chr 3:90,011,439...90,119,355 		JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,340,694...94,343,958
Ensembl chr 3:94,339,721...94,351,222 		JBrowse link
G Otud7b OTU domain containing 7B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:96,011,759...96,068,446
Ensembl chr 3:96,011,839...96,068,446 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member VI ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,271,376...88,275,848
Ensembl chr 3:88,271,891...88,275,848 		JBrowse link
G Pbxip1 pre B cell leukemia transcription factor interacting protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,343,982...89,358,259
Ensembl chr 3:89,344,013...89,358,259 		JBrowse link
G Pglyrp3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:91,919,784...91,939,979
Ensembl chr 3:91,921,890...91,938,889 		JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,634,008...90,648,824
Ensembl chr 3:90,634,213...90,648,824 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,882,042...94,914,248
Ensembl chr 3:94,882,042...94,914,154 		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 3:94,965,841...95,014,241
Ensembl chr 3:94,965,841...95,014,241 		JBrowse link
G Pklr pyruvate kinase liver and red blood cell ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091 		JBrowse link
G Plekho1 pleckstrin homology domain containing, family O member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,896,110...95,903,258
Ensembl chr 3:95,895,741...95,903,313 		JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,301,445...88,317,752
Ensembl chr 3:88,301,450...88,317,638 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,361,848...89,376,321
Ensembl chr 3:89,361,848...89,376,320 		JBrowse link
G Pogz pogo transposable element with ZNF domain ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,730,289...94,790,888
Ensembl chr 3:94,744,878...94,789,637 		JBrowse link
G Prcc papillary renal cell carcinoma (translocation-associated) ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,766,210...87,792,869
Ensembl chr 3:87,766,210...87,792,915 		JBrowse link
G Prm1 protamine 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:10,614,196...10,614,687
Ensembl chr16:10,614,190...10,623,703 		JBrowse link
G Prm2 protamine 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:10,609,241...10,609,969
Ensembl chr16:10,609,244...10,613,998 		JBrowse link
G Prm3 protamine 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:10,608,372...10,608,778
Ensembl chr16:10,608,369...10,608,778 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,737,436...95,763,197
Ensembl chr 3:95,737,436...95,763,197 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,029,511...92,031,254
Ensembl chr 3:92,029,511...92,031,254 		JBrowse link
G Prune1 prune exopolyphosphatase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,160,985...95,190,817
Ensembl chr 3:95,160,985...95,189,387 		JBrowse link
G Psmb4 proteasome (prosome, macropain) subunit, beta type 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,791,635...94,794,269
Ensembl chr 3:94,791,404...94,794,272 		JBrowse link
G Psmd4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,939,999...94,949,880
Ensembl chr 3:94,940,005...94,949,925 		JBrowse link
G Pygo2 pygopus 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,337,521...89,342,438
Ensembl chr 3:89,337,521...89,342,435 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,121,022...90,133,694
Ensembl chr 3:90,121,002...90,133,692 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,449,335...88,455,586
Ensembl chr 3:88,449,336...88,455,607 		JBrowse link
G Rfx5 regulatory factor X, 5 (influences HLA class II expression) ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency		 OMIM
ClinVar
CTD		 PMID:7744245 PMID:9401005 PMID:9536098 PMID:10079298 PMID:10395672 More... NCBI chr 3:94,861,355...94,868,685
Ensembl chr 3:94,861,386...94,868,872 		JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar Annotator: match by term: SCID, HLA Class 2-Negative
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency		 OMIM
ClinVar
CTD		 PMID:7951244 PMID:9536098 PMID:9806546 PMID:10725724 PMID:10803838 More... NCBI chr 8:70,583,456...70,591,847
Ensembl chr 8:70,583,444...70,591,804 		JBrowse link
G Rfxap regulatory factor X-associated protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bare Lymphocyte Syndrome, Type II, Complementation Group D | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar Annotator: match by term: SCID, HLA Class 2-Negative		 OMIM
CTD
ClinVar		 PMID:650344 PMID:7021490 PMID:9118943 PMID:9287230 PMID:9536098 More... NCBI chr 3:54,710,536...54,715,212
Ensembl chr 3:54,710,536...54,715,212 		JBrowse link
G Rhbg Rhesus blood group-associated B glycoprotein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,150,181...88,162,046
Ensembl chr 3:88,150,181...88,162,016 		JBrowse link
G Riiad1 regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,372,291...94,387,661
Ensembl chr 3:94,372,290...94,387,648 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		JBrowse link
G Rmi2 RecQ mediated genome instability 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:10,652,923...10,661,099
Ensembl chr16:10,652,923...10,710,830 		JBrowse link
G Rorc RAR-related orphan receptor gamma ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,280,106...94,305,583
Ensembl chr 3:94,280,101...94,305,583 		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 3:95,667,183...95,727,034
Ensembl chr 3:95,667,653...95,726,175 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,119,974...90,120,955
Ensembl chr 3:90,119,829...90,120,958 		JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:93,301,006...93,306,749
Ensembl chr 3:93,301,006...93,306,749 		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 3:88,991,282...89,000,670
Ensembl chr 3:88,991,288...89,000,618 		JBrowse link
G Rxfp4 relaxin family peptide receptor 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,559,081...88,560,489
Ensembl chr 3:88,559,205...88,560,449 		JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,418,341...90,421,637
Ensembl chr 3:90,418,341...90,421,699 		JBrowse link
G S100a10 S100 calcium binding protein A10 (calpactin) ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:93,462,424...93,471,952
Ensembl chr 3:93,462,387...93,471,950 		JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:93,427,803...93,433,595
Ensembl chr 3:93,427,795...93,433,594 		JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,421,542...90,431,888
Ensembl chr 3:90,421,742...90,431,888 		JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,434,156...90,436,144
Ensembl chr 3:90,434,163...90,436,144 		JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,444,561...90,450,458
Ensembl chr 3:90,444,561...90,450,458 		JBrowse link
G S100a2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,497,554...90,498,815
Ensembl chr 3:90,467,670...90,498,838 		JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,467,571...90,510,922
Ensembl chr 3:90,491,966...90,510,009 		JBrowse link
G S100a4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,511,077...90,513,349
Ensembl chr 3:90,511,078...90,513,352 		JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,513,787...90,519,091
Ensembl chr 3:90,515,830...90,519,087 		JBrowse link
G S100a6 S100 calcium binding protein A6 (calcyclin) ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,520,491...90,531,797
Ensembl chr 3:90,520,189...90,531,488 		JBrowse link
G S100a7a S100 calcium binding protein A7A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,561,609...90,565,437
Ensembl chr 3:90,561,324...90,565,976 		JBrowse link
G S100a8 S100 calcium binding protein A8 (calgranulin A) ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,576,378...90,577,341
Ensembl chr 3:90,576,285...90,577,342 		JBrowse link
G S100a9 S100 calcium binding protein A9 (calgranulin B) ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,599,937...90,603,028
Ensembl chr 3:90,599,939...90,603,028 		JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,084,698...89,090,077
Ensembl chr 3:89,084,780...89,090,072 		JBrowse link
G Scnm1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,037,030...95,041,285
Ensembl chr 3:95,036,847...95,041,322 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,840,394...94,852,069
Ensembl chr 3:94,840,367...94,852,069 		JBrowse link
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
G Sema6c sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,067,731...95,081,361
Ensembl chr 3:95,067,768...95,081,335 		JBrowse link
G Setdb1 SET domain, bifurcated 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,230,836...95,264,513
Ensembl chr 3:95,230,836...95,264,513 		JBrowse link
G Sf3b4 splicing factor 3b, subunit 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:96,079,822...96,084,880
Ensembl chr 3:96,079,648...96,084,880 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,754,070...87,763,116
Ensembl chr 3:87,754,062...87,763,029 		JBrowse link
G Shc1 src homology 2 domain-containing transforming protein C1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334 		JBrowse link
G She src homology 2 domain-containing transforming protein E ISO ClinVar Annotator: match by term: SCID, HLA Class 2-Negative ClinVar PMID:28492532 NCBI chr 3:89,738,667...89,766,149
Ensembl chr 3:89,738,677...89,766,141 		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 3:88,317,801...88,334,303
Ensembl chr 3:88,317,805...88,332,446 		JBrowse link
G Slc27a3 solute carrier family 27 (fatty acid transporter), member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,292,540...90,298,693
Ensembl chr 3:90,292,546...90,297,245 		JBrowse link
G Slc39a1 solute carrier family 39 (zinc transporter), member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,155,512...90,160,923
Ensembl chr 3:90,155,479...90,160,919 		JBrowse link
G Slc50a1 solute carrier family 50 (sugar transporter), member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,175,553...89,177,878
Ensembl chr 3:89,175,553...89,177,877 		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 3:92,491,173...92,496,380
Ensembl chr 3:92,491,174...92,496,304 		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 3:88,242,050...88,269,645
Ensembl chr 3:88,243,567...88,269,645 		JBrowse link
G Snapin SNAP-associated protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:90,395,333...90,398,320
Ensembl chr 3:90,395,333...90,398,340 		JBrowse link
G Snx27 sorting nexin family member 27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,404,849...94,490,023
Ensembl chr 3:94,404,851...94,490,023 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400 		JBrowse link
G Sprr1a small proline-rich protein 1A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,391,261...92,393,188
Ensembl chr 3:92,391,259...92,393,202 		JBrowse link
G Sprr1b small proline-rich protein 1B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,344,115...92,346,124
Ensembl chr 3:92,344,116...92,346,096 		JBrowse link
G Sprr2b small proline-rich protein 2B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,224,012...92,225,448
Ensembl chr 3:92,223,927...92,225,392 		JBrowse link
G Sprr2d small proline-rich protein 2D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,246,447...92,248,187
Ensembl chr 3:92,246,447...92,248,180 		JBrowse link
G Sprr2e small proline-rich protein 2E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,259,450...92,260,757
Ensembl chr 3:92,259,450...92,260,756 		JBrowse link
G Sprr2f small proline-rich protein 2F ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,272,494...92,273,754
Ensembl chr 3:92,272,494...92,273,749 		JBrowse link
G Sprr2g small proline-rich protein 2G ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,281,222...92,282,536
Ensembl chr 3:92,281,222...92,282,536 		JBrowse link
G Sprr2h small proline-rich protein 2H ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,292,992...92,294,631
Ensembl chr 3:92,292,992...92,294,631 		JBrowse link
G Sprr3 small proline-rich protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,363,809...92,366,027
Ensembl chr 3:92,363,809...92,366,027 		JBrowse link
G Sprr4 small proline-rich protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:92,407,570...92,407,800
Ensembl chr 3:92,407,570...92,407,800 		JBrowse link
G Ssr2 signal sequence receptor, beta ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726 		JBrowse link
G Syt11 synaptotagmin XI ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,652,006...88,682,466
Ensembl chr 3:88,652,007...88,682,471 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial (putative) ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,647,286...95,663,677
Ensembl chr 3:95,647,288...95,667,518 		JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:93,348,071...93,356,382
Ensembl chr 3:93,349,637...93,356,384 		JBrowse link
G Tchhl1 trichohyalin-like 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:93,376,061...93,379,287
Ensembl chr 3:93,376,061...93,379,287 		JBrowse link
G Tdrkh tudor and KH domain containing protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,320,551...94,342,161
Ensembl chr 3:94,320,580...94,341,975 		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 chr16:10,175,816...10,213,319
Ensembl chr16:10,175,812...10,213,354 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,122,470...89,134,148
Ensembl chr 3:89,122,487...89,134,144 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,217,415...94,239,847
Ensembl chr 3:94,217,396...94,239,847 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,249,406...94,254,659
Ensembl chr 3:94,249,406...94,254,659 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:8,451,595...8,455,575
Ensembl chr16:8,451,093...8,455,576 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,236,351...88,241,761
Ensembl chr 3:88,235,962...88,243,455 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,030,110...95,036,520
Ensembl chr 3:95,031,787...95,036,520 		JBrowse link
G Tnfaip8l2 tumor necrosis factor, alpha-induced protein 8-like 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,046,832...95,051,581
Ensembl chr 3:95,046,832...95,049,671 		JBrowse link
G Tnp2 transition protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:10,605,799...10,606,519
Ensembl chr16:10,605,800...10,606,524 		JBrowse link
G Tpm3 tropomyosin 3, gamma ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,979,958...90,008,209
Ensembl chr 3:89,979,956...90,008,209 		JBrowse link
G Trim46 tripartite motif-containing 46 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,141,476...89,153,655
Ensembl chr 3:89,141,484...89,153,616 		JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,190,059...88,204,306
Ensembl chr 3:88,190,064...88,204,306 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:87,976,717...87,985,611
Ensembl chr 3:87,977,334...87,982,824
Ensembl chr 3:87,977,334...87,982,824 		JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,520,060...94,566,179
Ensembl chr 3:94,520,064...94,566,179 		JBrowse link
G Tvp23a trans-golgi network vesicle protein 23A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chr16:10,237,397...10,265,251
Ensembl chr16:10,238,421...10,265,226 		JBrowse link
G Ubap2l ubiquitin-associated protein 2-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,906,896...89,959,867
Ensembl chr 3:89,907,447...89,959,935 		JBrowse link
G Ube2q1 ubiquitin-conjugating enzyme E2Q family member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:89,680,905...89,691,304
Ensembl chr 3:89,680,923...89,691,307 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:88,460,984...88,477,032
Ensembl chr 3:88,461,065...88,477,032 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:8,506,586...8,574,931
Ensembl chr16:8,507,459...8,610,172 		JBrowse link
G Vps45 vacuolar protein sorting 45 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,907,144...95,969,715
Ensembl chr 3:95,907,144...95,965,778 		JBrowse link
G Vps72 vacuolar protein sorting 72 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:95,018,353...95,030,362
Ensembl chr 3:95,018,333...95,030,362 		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 3:89,284,953...89,300,976
Ensembl chr 3:89,284,951...89,302,083 		JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:94,901,726...94,923,259
Ensembl chr 3:94,913,901...94,922,759 		JBrowse link
Omenn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 More... NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		JBrowse link
G Rag2 recombination activating gene 2 ISO
IAGP		 ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia
CTD Direct Evidence: marker/mechanism
OMIM:603554		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:10777560 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16960852 More... RGD:1599403 NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874 		JBrowse link
recombinase activating gene 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Recombinase activating gene 1 deficiency ClinVar PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11313270 More... NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		JBrowse link
recombinase activating gene 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag2 recombination activating gene 2 ISO ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency ClinVar PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 More... NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874 		JBrowse link
reticular dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Reticular dysgenesis
DNA:missense,nonsense mutations:cds:		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:19414857 More... RGD:11100026 NCBI chr 4:128,887,017...128,905,322
Ensembl chr 4:128,885,751...128,905,322 		JBrowse link
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: NHEJ1 SYNDROME | ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 More... NCBI chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844 		JBrowse link
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO
IAGP		 ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, partial
CTD Direct Evidence: marker/mechanism
OMIM:602450		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11336668 PMID:12055248 PMID:12569164 PMID:12592555 More... NCBI chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167 		JBrowse link
G Lig4 ligase IV, DNA, ATP-dependent ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:12471202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686 		JBrowse link
G Meig1 meiosis expressed gene 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:14744996 PMID:15071507 PMID:19912631 PMID:21664875 PMID:25741868 More... NCBI chr 2:3,410,080...3,423,685
Ensembl chr 2:3,410,080...3,423,685 		JBrowse link
G Suv39h2 suppressor of variegation 3-9 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:3,456,852...3,476,085
Ensembl chr 2:3,456,852...3,476,068 		JBrowse link
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta-chain (TCR) associated protein kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, atypical ClinVar PMID:8124727 PMID:20301777 PMID:25741868 PMID:27448562 PMID:28492532 NCBI chr 1:36,800,912...36,821,899
Ensembl chr 1:36,800,879...36,821,899 		JBrowse link
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:1346349 PMID:2651461 PMID:2773932 PMID:3182793 PMID:3475710 More... NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation OMIA PMID:17998435 PMID:22903400 PMID:23514746 PMID:25454085 PMID:26320255 More... NCBI chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167 		JBrowse link
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar NCBI chr 2:101,391,124...101,459,376
Ensembl chr 2:101,391,126...101,479,877 		JBrowse link
G Insl3 insulin-like 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr 8:72,141,896...72,143,221
Ensembl chr 8:72,141,858...72,143,219 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative		 ClinVar PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 More... NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Prkdc protein kinase, DNA activated, catalytic polypeptide IAGP OMIM:601457 MouseDO NCBI chr16:15,455,698...15,660,103
Ensembl chr16:15,455,730...15,660,099 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:290284 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 More... NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		JBrowse link
G Rag2 recombination activating gene 2 ISO
IAGP		 ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
OMIM:601457		 OMIM
ClinVar
CTD
MouseDO		 PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 More... NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874 		JBrowse link
G Rpl18a ribosomal protein L18A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr 8:71,347,366...71,350,087
Ensembl chr 8:71,347,366...71,350,056 		JBrowse link
G Slc5a5 solute carrier family 5 (sodium iodide symporter), member 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr 8:71,335,529...71,345,429
Ensembl chr 8:71,335,533...71,345,401 		JBrowse link
G Txndc15 thioredoxin domain containing 15 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar PMID:25741868 NCBI chr13:55,862,463...55,874,040
Ensembl chr13:55,862,463...55,874,040 		JBrowse link
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insl3 insulin-like 3 ISO ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type ClinVar PMID:28492532 NCBI chr 8:72,141,896...72,143,221
Ensembl chr 8:72,141,858...72,143,219 		JBrowse link
G Jak3 Janus kinase 3 ISO DNA:point mutation, deletion:CDS:394A>G, pY100C (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: JAK3-related condition | ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type		 OMIM
CTD
ClinVar
RGD		 PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 More... RGD:1600254 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Rpl18a ribosomal protein L18A ISO ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type ClinVar PMID:28492532 NCBI chr 8:71,347,366...71,350,087
Ensembl chr 8:71,347,366...71,350,056 		JBrowse link
G Slc5a5 solute carrier family 5 (sodium iodide symporter), member 5 ISO ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type ClinVar PMID:28492532 NCBI chr 8:71,335,529...71,345,429
Ensembl chr 8:71,335,533...71,345,401 		JBrowse link
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coro1a coronin, actin binding protein 1A IAGP OMIM:608971 MouseDO NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959 		JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262 		JBrowse link
G Jak3 Janus kinase 3 IAGP OMIM:608971 MouseDO NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Ptprc protein tyrosine phosphatase receptor type C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar PMID:7621884 PMID:11101853 PMID:11528386 PMID:11548742 PMID:11841494 More... NCBI chr 1:137,990,601...138,103,491
Ensembl chr 1:137,990,599...138,103,446 		JBrowse link
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency ClinVar PMID:25741868 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO
IAGP		 ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
CTD Direct Evidence: marker/mechanism
OMIM:601705		 OMIM
ClinVar
CTD
MouseDO		 PMID:8911612 PMID:9536098 PMID:10206641 PMID:15180707 PMID:15897400 More... NCBI chr11:78,248,403...78,277,597
Ensembl chr11:78,248,403...78,277,384 		JBrowse link
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acot8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,634,688...164,662,132
Ensembl chr 2:164,634,685...164,646,802 		JBrowse link
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Ccn5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,662,724...163,675,066
Ensembl chr 2:163,662,781...163,675,066 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,674,792...164,682,952
Ensembl chr 2:164,674,793...164,682,952 		JBrowse link
G Dbndd2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,309,073...164,335,243
Ensembl chr 2:164,328,026...164,335,239 		JBrowse link
G Dnttip1 deoxynucleotidyltransferase, terminal, interacting protein 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,587,935...164,610,140
Ensembl chr 2:164,587,903...164,610,527 		JBrowse link
G Eppin epididymal peptidase inhibitor ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,430,263...164,435,491
Ensembl chr 2:164,430,263...164,435,514 		JBrowse link
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,310,623...163,314,549
Ensembl chr 2:163,308,299...163,314,549 		JBrowse link
G Gdap1l1 ganglioside-induced differentiation-associated protein 1-like 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,280,387...163,297,264
Ensembl chr 2:163,280,396...163,297,244 		JBrowse link
G Gtsf1l gametocyte specific factor 1-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:162,928,956...162,931,529
Ensembl chr 2:162,928,954...162,929,775 		JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830 		JBrowse link
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:162,859,200...162,888,075
Ensembl chr 2:162,859,274...162,888,061 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,178,162...163,239,969
Ensembl chr 2:163,178,162...163,239,913 		JBrowse link
G Kcnk15 potassium channel, subfamily K, member 15 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,695,670...163,700,794
Ensembl chr 2:163,695,571...163,701,666 		JBrowse link
G Kcns1 K+ voltage-gated channel, subfamily S, 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,005,539...164,013,865
Ensembl chr 2:164,005,539...164,013,033 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,231,313...164,247,080
Ensembl chr 2:164,231,313...164,247,080 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mybl2 myeloblastosis oncogene-like 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:162,896,246...162,926,608
Ensembl chr 2:162,896,607...162,926,608 		JBrowse link
G Neurl2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,672,650...164,675,516
Ensembl chr 2:164,672,652...164,675,376 		JBrowse link
G Oser1 oxidative stress responsive serine rich 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,247,742...163,266,422
Ensembl chr 2:163,247,742...163,266,617 		JBrowse link
G Pabpc1l poly(A) binding protein, cytoplasmic 1-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,866,685...163,892,458
Ensembl chr 2:163,867,370...163,892,458 		JBrowse link
G Pcif1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,721,288...164,733,360
Ensembl chr 2:164,721,224...164,736,374 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221 		JBrowse link
G Pkig protein kinase inhibitor, gamma ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,500,306...163,568,078
Ensembl chr 2:163,500,306...163,568,078 		JBrowse link
G Pltp phospholipid transfer protein ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,681,441...164,699,564
Ensembl chr 2:164,681,438...164,699,631 		JBrowse link
G R3hdml R3H domain containing-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,333,364...163,344,532
Ensembl chr 2:163,334,238...163,344,532 		JBrowse link
G Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,244,996...164,257,368
Ensembl chr 2:164,245,061...164,257,368 		JBrowse link
G Rims4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,701,676...163,760,893
Ensembl chr 2:163,701,671...163,760,603 		JBrowse link
G Sdc4 syndecan 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,266,167...164,285,512
Ensembl chr 2:164,266,167...164,285,807 		JBrowse link
G Semg1 semenogelin 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,077,849...164,080,261
Ensembl chr 2:164,077,849...164,080,386 		JBrowse link
G Serinc3 serine incorporator 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,466,577...163,487,767
Ensembl chr 2:163,465,192...163,487,051 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,195,990...164,231,086
Ensembl chr 2:164,195,990...164,231,015 		JBrowse link
G Snx21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,627,535...164,635,730
Ensembl chr 2:164,627,743...164,635,736 		JBrowse link
G Spata25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,669,302...164,670,454
Ensembl chr 2:164,668,309...164,670,457 		JBrowse link
G Spint3 serine peptidase inhibitor, Kunitz type, 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,411,641...164,415,355
Ensembl chr 2:164,411,615...164,415,379 		JBrowse link
G Spint4 serine protease inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,540,421...164,544,368
Ensembl chr 2:164,540,421...164,544,373 		JBrowse link
G Stk4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: MST1 DEFICIENCY | ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22174160 PMID:22294732 More... NCBI chr 2:163,916,033...163,997,444
Ensembl chr 2:163,912,242...163,997,444 		JBrowse link
G Sys1 SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,297,736...164,322,141
Ensembl chr 2:164,298,884...164,321,558 		JBrowse link
G Tnnc2 troponin C2, fast ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,619,081...164,621,654
Ensembl chr 2:164,619,081...164,621,887 		JBrowse link
G Tomm34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,895,458...163,913,168
Ensembl chr 2:163,895,460...163,913,089 		JBrowse link
G Tox2 TOX high mobility group box family member 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,045,047...163,166,092
Ensembl chr 2:163,045,045...163,166,090 		JBrowse link
G Trp53tg5 transformation related protein 53 target 5 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,308,303...164,315,787
Ensembl chr 2:164,312,221...164,315,644 		JBrowse link
G Ttpal tocopherol (alpha) transfer protein-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,444,206...163,460,933
Ensembl chr 2:163,444,234...163,460,933 		JBrowse link
G Ube2c ubiquitin-conjugating enzyme E2C ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,611,849...164,614,822
Ensembl chr 2:164,611,818...164,620,742 		JBrowse link
G Wfdc10 WAP four-disulfide core domain 10 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,497,966...164,499,288
Ensembl chr 2:164,497,966...164,499,288 		JBrowse link
G Wfdc11 WAP four-disulfide core domain 11 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,504,814...164,516,011
Ensembl chr 2:164,504,814...164,516,007 		JBrowse link
G Wfdc12 WAP four-disulfide core domain 12 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,031,151...164,032,528
Ensembl chr 2:164,031,151...164,032,528 		JBrowse link
G Wfdc13 WAP four-disulfide core domain 13 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,527,027...164,529,626
Ensembl chr 2:164,527,027...164,529,626 		JBrowse link
G Wfdc2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,404,635...164,410,430
Ensembl chr 2:164,404,333...164,410,430 		JBrowse link
G Wfdc3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,573,222...164,587,914
Ensembl chr 2:164,573,100...164,587,851 		JBrowse link
G Wfdc5 WAP four-disulfide core domain 5 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,018,245...164,024,662
Ensembl chr 2:164,018,247...164,024,662 		JBrowse link
G Wfdc6a WAP four-disulfide core domain 6A ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,421,439...164,427,704
Ensembl chr 2:164,421,439...164,427,367 		JBrowse link
G Wfdc8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,438,378...164,455,545
Ensembl chr 2:164,438,378...164,455,546 		JBrowse link
G Wfdc9 WAP four-disulfide core domain 9 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,491,547...164,499,263
Ensembl chr 2:164,491,551...164,498,503 		JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:163,837,082...163,860,508
Ensembl chr 2:163,836,880...163,860,508 		JBrowse link
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,733,802...164,756,034
Ensembl chr 2:164,733,802...164,753,677 		JBrowse link
G Zswim1 zinc finger SWIM-type containing 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,664,933...164,668,791
Ensembl chr 2:164,664,606...164,668,791 		JBrowse link
G Zswim3 zinc finger SWIM-type containing 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr 2:164,647,034...164,664,047
Ensembl chr 2:164,647,018...164,664,050 		JBrowse link
X-linked severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Il2rg interleukin 2 receptor, gamma chain ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency OMIM
ClinVar
RGD		 PMID:2169613 PMID:2984567 PMID:7557965 PMID:7632950 PMID:7668284 More... RGD:2316325 NCBI chr  X:100,307,991...100,311,861
Ensembl chr  X:100,307,984...100,311,861 		JBrowse link
G Itgb1bp2 integrin beta 1 binding protein 2 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:100,492,694...100,520,391
Ensembl chr  X:100,492,694...100,497,147 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:100,342,785...100,364,956
Ensembl chr  X:100,342,774...100,369,569 		JBrowse link
G Nono non-POU-domain-containing, octamer binding protein ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:100,473,295...100,492,193
Ensembl chr  X:100,472,924...100,492,197 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:100,576,335...100,644,635
Ensembl chr  X:100,576,340...100,645,395 		JBrowse link
G Zmym3 zinc finger, MYM-type 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:100,447,990...100,464,986
Ensembl chr  X:100,447,990...100,464,455 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    syndrome 10334
      primary immunodeficiency disease 3853
        combined immunodeficiency 900
          severe combined immunodeficiency 484
            CD3delta deficiency 0
            CD3epsilon deficiency 72
            CD3gamma deficiency 0
            CD3zeta deficiency 0
            CD45 deficiency 0
            HLA Class 1 Deficiency 0
            Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
            MHC class I deficiency 4
            MHC class II deficiency 238
            Omenn syndrome 3
            Reticuloendotheliosis, X-Linked 0
            Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
            Severe Combined Immunodeficiency, Atypical 1
            Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 4
            Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 1
            T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 58
            T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
            X-linked severe combined immunodeficiency 8
            adenosine deaminase deficiency 8
            coronin-1A deficiency 29
            immunodeficiency 10 1
            immunodeficiency 11A 6
            immunodeficiency 15B 18
            immunodeficiency 19 72
            immunodeficiency 22 1
            immunodeficiency 24 3
            immunodeficiency 26 5
            immunodeficiency 48 1
            immunodeficiency 9 1
            interleukin-7 receptor alpha deficiency 0
            janus kinase-3 deficiency 0
            recombinase activating gene 1 deficiency 1
            recombinase activating gene 2 deficiency 1
            reticular dysgenesis 1
            severe combined immunodeficiency with sensitivity to ionizing radiation 4
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 11
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive + 7
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      Immune & Inflammatory Diseases 5169
        immune system disease 4461
          primary immunodeficiency disease 3853
            combined immunodeficiency 900
              severe combined immunodeficiency 484
                CD3delta deficiency 0
                CD3epsilon deficiency 72
                CD3gamma deficiency 0
                CD3zeta deficiency 0
                CD45 deficiency 0
                HLA Class 1 Deficiency 0
                Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
                MHC class I deficiency 4
                MHC class II deficiency 238
                Omenn syndrome 3
                Reticuloendotheliosis, X-Linked 0
                Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
                Severe Combined Immunodeficiency, Atypical 1
                Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 4
                Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 1
                T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 58
                T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
                X-linked severe combined immunodeficiency 8
                adenosine deaminase deficiency 8
                coronin-1A deficiency 29
                immunodeficiency 10 1
                immunodeficiency 11A 6
                immunodeficiency 15B 18
                immunodeficiency 19 72
                immunodeficiency 22 1
                immunodeficiency 24 3
                immunodeficiency 26 5
                immunodeficiency 48 1
                immunodeficiency 9 1
                interleukin-7 receptor alpha deficiency 0
                janus kinase-3 deficiency 0
                recombinase activating gene 1 deficiency 1
                recombinase activating gene 2 deficiency 1
                reticular dysgenesis 1
                severe combined immunodeficiency with sensitivity to ionizing radiation 4
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 11
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive + 7
paths to the root