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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;   MIM:PS601457;   NCI:C3472
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 IAGP 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 chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G AK2 adenylate kinase 2 EXP
IAGP		 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 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996 		JBrowse link
G CD247 CD247 molecule IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More... NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP
EXP		 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 chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP
EXP		 ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:8490660 PMID:15546002 PMID:25741868 PMID:28492532 PMID:33628209 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CORO1A coronin 1A IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076 		JBrowse link
G DCLRE1C DNA cross-link repair 1C susceptibility IAGP DNA:deletion:exon
ClinVar Annotator: match by term: Severe combined immunodeficiency disease		 ClinVar
RGD		 PMID:11336668 PMID:12406895 PMID:12727634 PMID:18223550 PMID:19953608 More... RGD:1601049 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:14722525 PMID:19776401 PMID:25724123 PMID:27891178 PMID:28492532 More... NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G DOCK8-AS1 DOCK8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25724123 PMID:27891178 PMID:29930340 PMID:30697212 PMID:32888943 NCBI chr 9:213,457...215,750
Ensembl chr 9:212,824...215,893 		JBrowse link
G DOP1A DOP1 leucine zipper like protein A IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:17548465 PMID:24033266 PMID:24589341 PMID:24931394 PMID:25741868 More... NCBI chr 6:83,067,671...83,171,350
Ensembl chr 6:83,067,666...83,171,350 		JBrowse link
G EPO erythropoietin ISO Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G FOXN1 forkhead box N1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr17:28,506,348...28,538,900
Ensembl chr17:28,506,243...28,538,900 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G IL2 interleukin 2 IEP mRNA:decreased_expression::no detectable IL2 mRNA RGD PMID:2342538 RGD:1600060 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IL7R interleukin 7 receptor IAGP autosomal recessive T cell(-), B cell(+), NK cell(+) severe combined immunodeficiency, OMIM:608971 DNA:point_mutation:CDS:C->T, amino acid T66I
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 chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G INPP5D inositol polyphosphate-5-phosphatase D IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chr 2:233,060,342...233,207,903
Ensembl chr 2:233,059,967...233,207,903 		JBrowse link
G JAK3 Janus kinase 3 treatment ISO
IAGP
EXP		 ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... RGD:11531109 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G KDM2B lysine demethylase 2B IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chr12:121,408,461...121,582,279
Ensembl chr12:121,429,096...121,581,023 		JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:27748010 NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165 		JBrowse link
G LIG4 DNA ligase 4 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:16585603 PMID:18845326 PMID:26151233 PMID:28492532 PMID:31604460 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LOC107303343 adenosine deaminase intronic regulatory elements IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:8120281 PMID:8178821 PMID:21664875 PMID:25741868 PMID:28492532 NCBI chr20:44,629,004...44,652,471 JBrowse link
G LOC126861358 BRD4-independent group 4 enhancer GRCh37_chr11:118220212-118221411 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr11:118,349,497...118,350,696 JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G LOC130009573 ATAC-STARR-seq lymphoblastoid silent region 5267 IAGP ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:36,819,140...36,819,509 JBrowse link
G MALT1 MALT1 paracaspase IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:21813566 PMID:23296427 PMID:23402911 PMID:25548164 PMID:25633902 More... NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYOC myocilin IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More... NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688 		JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein IAGP ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:25741868 NCBI chr19:19,201,409...19,203,414
Ensembl chr19:19,201,409...19,203,414 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:17548465 PMID:24033266 PMID:24589341 PMID:24931394 PMID:25741868 More... NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PNP purine nucleoside phosphorylase IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:1384322 PMID:9067751 PMID:22132981 PMID:23371835 PMID:24033266 More... NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO RGD PMID:9122213 PMID:22981234 RGD:1599202, RGD:8696027 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178 		JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C IAGP DNA:deletion
ClinVar Annotator: match by term: Severe combined immunodeficiency disease		 ClinVar
RGD		 PMID:11145714 RGD:1599983 NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,757,476 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 PMID:28492532 PMID:30723080 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		JBrowse link
G RAG1 recombination activating 1 IAGP
ISO		 ClinVar Annotator: match by term: Severe combined immunodeficiency disease
missense mutations in both genes Omenn syndrome, OMIM:179615 , OMIM:179616		 ClinVar
RGD		 PMID:290284 PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 More... RGD:1599402, RGD:7204134, RGD:7204131, RGD:1599403 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RAG2 recombination activating 2 IAGP
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 chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G RFX5 regulatory factor X5 IAGP ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:7744245 PMID:9401005 RGD:1599743, RGD:1599742 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar
RGD		 PMID:9806546 PMID:10803838 PMID:16166641 PMID:21908431 PMID:25741868 More... RGD:1599746 NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869 		JBrowse link
G RFXAP regulatory factor X associated protein IAGP ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104 		JBrowse link
G STK4 serine/threonine kinase 4 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,080,021 		JBrowse link
G TAPBP TAP binding protein IAGP type I bare lymphocyte syndrome, OMIM:604571 RGD PMID:12149238 RGD:1599296 NCBI chr 6:33,299,694...33,314,078
Ensembl chr 6:33,299,694...33,314,284 		JBrowse link
G TFRC transferrin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:26642240 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
G VDAC2 voltage dependent anion channel 2 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chr10:75,210,170...75,231,448
Ensembl chr10:75,210,154...75,231,448 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP
EXP		 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:11123350 PMID:20301777 PMID:28492532 PMID:33184721 More... RGD:1599880 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		JBrowse link
G ZBTB25 zinc finger and BTB domain containing 25 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr14:64,449,106...64,505,213
Ensembl chr14:64,449,106...64,505,213 		JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOT8 acyl-CoA thioesterase 8 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,841,721...45,857,392
Ensembl chr20:45,841,721...45,857,405 		JBrowse link
G ADA adenosine deaminase IAGP
ISS
EXP		 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:102700
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G CCN5 cellular communication network factor 5 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,714,861...44,727,811
Ensembl chr20:44,714,844...44,728,509 		JBrowse link
G CD247 CD247 molecule IAGP ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More... NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161 		JBrowse link
G CD40 CD40 molecule IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CDH22 cadherin 22 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,173,739...46,308,498
Ensembl chr20:46,173,739...46,308,498 		JBrowse link
G CTSA cathepsin A IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949 		JBrowse link
G DBNDD2 dysbindin domain containing 2 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,405,993...45,410,610
Ensembl chr20:45,406,057...45,410,610 		JBrowse link
G DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,791,954...45,811,418
Ensembl chr20:45,791,954...45,811,427 		JBrowse link
G ELMO2 engulfment and cell motility 2 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985 		JBrowse link
G EPPIN epididymal peptidase inhibitor IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,540,626...45,547,401
Ensembl chr20:45,540,626...45,547,752 		JBrowse link
G EPPIN-WFDC6 EPPIN-WFDC6 readthrough IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,536,280...45,547,401
Ensembl chr20:45,534,196...45,547,662 		JBrowse link
G FITM2 fat storage inducing transmembrane protein 2 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,302,840...44,311,202
Ensembl chr20:44,302,840...44,311,202 		JBrowse link
G GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,247,099...44,280,947
Ensembl chr20:44,247,099...44,280,947 		JBrowse link
G GTSF1L gametocyte specific factor 1 like IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:43,726,164...43,727,002
Ensembl chr20:43,726,164...43,727,002 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299 		JBrowse link
G JAK3 Janus kinase 3 IAGP 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 chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G JPH2 junctophilin 2 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188 		JBrowse link
G KCNK15 potassium two pore domain channel subfamily K member 15 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,745,865...44,752,313
Ensembl chr20:44,745,865...44,752,313 		JBrowse link
G KCNS1 potassium voltage-gated channel modifier subfamily S member 1 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,091,214...45,101,127
Ensembl chr20:45,091,214...45,101,127 		JBrowse link
G LOC107303343 adenosine deaminase intronic regulatory elements IAGP 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 chr20:44,629,004...44,652,471 JBrowse link
G LOC108167311 proximal ADA Alu-mediated recombination region IAGP 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:9361033 NCBI chr20:44,649,731...44,650,034 JBrowse link
G LOC108167312 distal ADA Alu-mediated recombination region IAGP 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:9361033 NCBI chr20:44,652,981...44,653,289 JBrowse link
G LOC126861358 BRD4-independent group 4 enhancer GRCh37_chr11:118220212-118221411 IAGP ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr11:118,349,497...118,350,696 JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G MATN4 matrilin 4 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,293,450...45,308,684
Ensembl chr20:45,293,445...45,308,529 		JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MYBL2 MYB proto-oncogene like 2 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:43,667,114...43,716,482
Ensembl chr20:43,667,019...43,716,495 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G NCOA5 nuclear receptor coactivator 5 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,060,991...46,089,962
Ensembl chr20:46,060,991...46,089,962 		JBrowse link
G NEURL2 neuralized E3 ubiquitin protein ligase 2 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,888,634...45,891,208
Ensembl chr20:45,888,625...45,891,208 		JBrowse link
G OCSTAMP osteoclast stimulatory transmembrane protein IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,540,946...46,550,654
Ensembl chr20:46,540,946...46,550,654 		JBrowse link
G OSER1 oxidative stress responsive serine rich 1 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,195,939...44,211,810
Ensembl chr20:44,195,939...44,210,771 		JBrowse link
G PABPC1L poly(A) binding protein cytoplasmic 1 like IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,910,060...44,939,316
Ensembl chr20:44,910,060...44,959,035 		JBrowse link
G PCIF1 phosphorylated CTD interacting factor 1 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,934,683...45,948,020
Ensembl chr20:45,934,683...45,948,023 		JBrowse link
G PI3 peptidase inhibitor 3 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,174,902...45,176,544
Ensembl chr20:45,174,902...45,176,544 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PKIG cAMP-dependent protein kinase inhibitor gamma IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,531,875...44,619,037
Ensembl chr20:44,531,785...44,624,247 		JBrowse link
G PLTP phospholipid transfer protein IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,898,620...45,912,155
Ensembl chr20:45,898,621...45,912,155 		JBrowse link
G R3HDML R3H domain containing like IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,337,043...44,351,238
Ensembl chr20:44,337,043...44,351,238 		JBrowse link
G RAG1 recombination activating 1 IAGP ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 More... NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RBPJL recombination signal binding protein for immunoglobulin kappa J region like IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,306,840...45,317,824
Ensembl chr20:45,306,840...45,317,824 		JBrowse link
G RIMS4 regulating synaptic membrane exocytosis 4 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,751,808...44,810,546
Ensembl chr20:44,751,808...44,810,546 		JBrowse link
G SDC4 syndecan 4 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,325,288...45,348,424
Ensembl chr20:45,325,288...45,348,424 		JBrowse link
G SEMG1 semenogelin 1 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,207,033...45,209,768
Ensembl chr20:45,207,033...45,209,768 		JBrowse link
G SEMG2 semenogelin 2 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,221,373...45,224,458
Ensembl chr20:45,221,373...45,224,458 		JBrowse link
G SERINC3 serine incorporator 3 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,496,221...44,522,070
Ensembl chr20:44,496,221...44,522,085 		JBrowse link
G SLC12A5 solute carrier family 12 member 5 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150 		JBrowse link
G SLC13A3 solute carrier family 13 member 3 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,557,828...46,684,485
Ensembl chr20:46,557,823...46,684,467 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC35C2 solute carrier family 35 member C2 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,345,984...46,364,425
Ensembl chr20:46,345,980...46,364,458 		JBrowse link
G SLPI secretory leukocyte peptidase inhibitor IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564 		JBrowse link
G SNX21 sorting nexin family member 21 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,833,799...45,843,276
Ensembl chr20:45,833,799...45,843,276 		JBrowse link
G SPATA25 spermatogenesis associated 25 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,886,491...45,891,016
Ensembl chr20:45,886,491...45,887,622 		JBrowse link
G SPINT3 serine peptidase inhibitor, Kunitz type 3 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,512,461...45,515,622
Ensembl chr20:45,512,461...45,515,622 		JBrowse link
G SPINT4 serine peptidase inhibitor, Kunitz type 4 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,722,347...45,725,830
Ensembl chr20:45,722,347...45,725,830 		JBrowse link
G STK4 serine/threonine kinase 4 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,080,021 		JBrowse link
G SYS1 SYS1 golgi trafficking protein IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,361,949...45,376,798
Ensembl chr20:45,361,937...45,376,798 		JBrowse link
G TNNC2 troponin C2, fast skeletal type IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,823,214...45,833,306
Ensembl chr20:45,823,214...45,833,745 		JBrowse link
G TOMM34 translocase of outer mitochondrial membrane 34 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,942,130...44,960,397
Ensembl chr20:44,942,130...44,960,397 		JBrowse link
G TOX2 TOX high mobility group box family member 2 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:43,914,852...44,069,616
Ensembl chr20:43,914,852...44,069,616 		JBrowse link
G TP53RK TP53 regulating kinase IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TP53TG5 TP53 target 5 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,372,557...45,378,325
Ensembl chr20:45,372,557...45,407,889 		JBrowse link
G TTPAL alpha tocopherol transfer protein like IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,475,874...44,494,603
Ensembl chr20:44,475,874...44,494,603 		JBrowse link
G UBE2C ubiquitin conjugating enzyme E2 C IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,812,644...45,816,952
Ensembl chr20:45,812,576...45,816,957 		JBrowse link
G WFDC10A WAP four-disulfide core domain 10A IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,629,739...45,631,196
Ensembl chr20:45,629,739...45,631,196 		JBrowse link
G WFDC10B WAP four-disulfide core domain 10B IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,684,651...45,705,019
Ensembl chr20:45,684,651...45,705,019 		JBrowse link
G WFDC11 WAP four-disulfide core domain 11 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,648,563...45,670,239
Ensembl chr20:45,648,563...45,670,270 		JBrowse link
G WFDC12 WAP four-disulfide core domain 12 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,123,425...45,124,465
Ensembl chr20:45,123,425...45,124,465 		JBrowse link
G WFDC13 WAP four-disulfide core domain 13 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,702,038...45,708,817
Ensembl chr20:45,702,038...45,708,817 		JBrowse link
G WFDC2 WAP four-disulfide core domain 2 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,469,753...45,481,532
Ensembl chr20:45,469,753...45,481,532 		JBrowse link
G WFDC3 WAP four-disulfide core domain 3 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,774,213...45,791,883
Ensembl chr20:45,747,944...45,791,932 		JBrowse link
G WFDC5 WAP four-disulfide core domain 5 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,109,463...45,116,319
Ensembl chr20:45,109,452...45,115,174 		JBrowse link
G WFDC6 WAP four-disulfide core domain 6 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,534,196...45,539,482
Ensembl chr20:45,534,196...45,539,482 		JBrowse link
G WFDC8 WAP four-disulfide core domain 8 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,551,152...45,579,284
Ensembl chr20:45,551,153...45,579,326 		JBrowse link
G WFDC9 WAP four-disulfide core domain 9 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,607,939...45,631,284
Ensembl chr20:45,607,939...45,631,284 		JBrowse link
G YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:44,885,705...44,908,532
Ensembl chr20:44,885,702...44,908,532 		JBrowse link
G ZNF334 zinc finger protein 334 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,462,313...46,513,559
Ensembl chr20:46,499,630...46,513,559 		JBrowse link
G ZNF335 zinc finger protein 335 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203 		JBrowse link
G ZNF840P zinc finger protein 840, pseudogene IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:46,490,940...46,492,292
Ensembl chr20:46,484,461...46,492,640 		JBrowse link
G ZSWIM1 zinc finger SWIM-type containing 1 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,880,920...45,885,266
Ensembl chr20:45,881,227...45,885,266 		JBrowse link
G ZSWIM3 zinc finger SWIM-type containing 3 IAGP 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:26255240 PMID:26376800 PMID:28492532 NCBI chr20:45,857,614...45,879,122
Ensembl chr20:45,857,614...45,879,122 		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 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,149,052...119,162,666
Ensembl chr11:119,149,052...119,162,653 		JBrowse link
G APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOA4 apolipoprotein A4 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G APOC3 apolipoprotein C3 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G ARCN1 archain 1 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:120,336,413...120,489,937
Ensembl chr11:120,336,413...120,489,937 		JBrowse link
G ATP5MG ATP synthase membrane subunit g IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,401,606...118,409,847
Ensembl chr11:118,401,346...118,433,278 		JBrowse link
G BACE1 beta-secretase 1 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,285,698...117,316,256
Ensembl chr11:117,285,232...117,316,259 		JBrowse link
G BACE1-AS BACE1 antisense RNA IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,291,346...117,292,170
Ensembl chr11:117,288,453...117,293,578 		JBrowse link
G BCL9L BCL9 like IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,896,136...118,925,926
Ensembl chr11:118,893,875...118,925,926 		JBrowse link
G C1QTNF5 C1q and TNF related 5 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G C2CD2L C2CD2 like IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,102,249...119,118,544
Ensembl chr11:119,102,198...119,118,544 		JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,998,138...119,015,793
Ensembl chr11:118,998,138...119,015,793 		JBrowse link
G CEP164 centrosomal protein 164 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,883,892...118,897,787
Ensembl chr11:118,883,892...118,897,787 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,190,254...119,195,841
Ensembl chr11:119,190,250...119,196,769 		JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,427,772...117,817,514
Ensembl chr11:117,427,772...117,817,525 		JBrowse link
G FOXR1 forkhead box R1 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,971,761...118,981,287
Ensembl chr11:118,971,712...118,981,287 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698 		JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,836,981...117,877,430
Ensembl chr11:117,836,976...117,877,486 		JBrowse link
G FXYD6-FXYD2 FXYD6-FXYD2 readthrough IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,820,057...117,876,658
Ensembl chr11:117,820,163...117,876,667 		JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:120,511,748...120,988,906
Ensembl chr11:120,511,746...120,988,906 		JBrowse link
G H2AX H2A.X variant histone IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,874...119,095,465 		JBrowse link
G HINFP histone H4 transcription factor IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,121,580...119,136,059
Ensembl chr11:119,121,580...119,136,059 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227 		JBrowse link
G IFT46 intraflagellar transport 46 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,544,543...118,576,898
Ensembl chr11:118,544,528...118,572,970 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G JAML junction adhesion molecule like IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,193,725...118,225,011
Ensembl chr11:118,193,725...118,225,092 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G MCAM melanoma cell adhesion molecule IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,308,529...119,317,130
Ensembl chr11:119,308,529...119,321,521 		JBrowse link
G MFRP membrane frizzled-related protein IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
G MPZL2 myelin protein zero like 2 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536 		JBrowse link
G MPZL3 myelin protein zero like 3 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,226,690...118,252,365
Ensembl chr11:118,226,690...118,252,365 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,185,475...119,190,213
Ensembl chr11:119,185,457...119,190,223 		JBrowse link
G NLRX1 NLR family member X1 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,168,334...119,184,016
Ensembl chr11:119,166,568...119,184,016 		JBrowse link
G OAF out at first homolog IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:120,211,032...120,230,334
Ensembl chr11:120,211,032...120,230,334 		JBrowse link
G PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,144,287...117,178,173
Ensembl chr11:117,144,284...117,176,894 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,204,337...117,232,073
Ensembl chr11:117,204,337...117,232,525 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031 		JBrowse link
G POU2F3 POU class 2 homeobox 3 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:120,236,638...120,319,945
Ensembl chr11:120,236,640...120,319,945 		JBrowse link
G RNF214 ring finger protein 214 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,232,671...117,286,454
Ensembl chr11:117,232,625...117,286,454 		JBrowse link
G RNF26 ring finger protein 26 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,334,527...119,337,309
Ensembl chr11:119,334,527...119,337,309 		JBrowse link
G RPS25 ribosomal protein S25 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,015,717...119,018,343
Ensembl chr11:119,015,712...119,018,691 		JBrowse link
G SC5D sterol-C5-desaturase IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888 		JBrowse link
G SIDT2 SID1 transmembrane family member 2 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,178,743...117,197,442
Ensembl chr11:117,178,736...117,197,445 		JBrowse link
G SIK3 SIK family kinase 3 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SORL1 sortilin related receptor 1 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763 		JBrowse link
G TAGLN transgelin IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,199,294...117,207,465
Ensembl chr11:117,199,370...117,207,464 		JBrowse link
G TBCEL tubulin folding cofactor E like IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:121,024,102...121,090,776
Ensembl chr11:121,024,072...121,090,776 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G THY1 Thy-1 cell surface antigen IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,415,476...119,424,985
Ensembl chr11:119,415,476...119,424,985 		JBrowse link
G TLCD5 TLC domain containing 5 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:120,325,299...120,333,686
Ensembl chr11:120,325,296...120,333,686 		JBrowse link
G TMEM25 transmembrane protein 25 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,531,192...118,547,286
Ensembl chr11:118,531,041...118,547,280 		JBrowse link
G TMPRSS13 transmembrane serine protease 13 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:117,900,641...117,929,402
Ensembl chr11:117,900,641...117,929,459 		JBrowse link
G TMPRSS4 transmembrane serine protease 4 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,077,078...118,125,505
Ensembl chr11:118,077,012...118,125,510 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454 		JBrowse link
G TREH trehalase IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,657,316...118,679,650
Ensembl chr11:118,657,316...118,679,690 		JBrowse link
G TRIM29 tripartite motif containing 29 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:120,111,286...120,138,113
Ensembl chr11:120,111,286...120,185,529 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,527,474...118,530,993
Ensembl chr11:118,527,472...118,531,197 		JBrowse link
G UBE4A ubiquitination factor E4A IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,359,600...118,399,211
Ensembl chr11:118,359,600...118,399,211 		JBrowse link
G UPK2 uroplakin 2 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,956,298...118,958,559
Ensembl chr11:118,925,164...118,958,559 		JBrowse link
G USP2 ubiquitin specific peptidase 2 IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr11:119,355,215...119,381,690
Ensembl chr11:119,355,215...119,381,711 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
coronin-1A deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,053,151...30,070,414
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420 		JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,900,363...29,919,864
Ensembl chr16:29,900,375...29,919,864 		JBrowse link
G BOLA2 bolA family member 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:29,453,588...29,454,964
Ensembl chr16:30,192,932...30,194,306
Ensembl chr16:30,192,932...30,194,306 		JBrowse link
G BOLA2B bolA family member 2B IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION ClinVar PMID:28492532 NCBI chr16:30,192,932...30,193,666
Ensembl chr16:30,192,932...30,194,306 		JBrowse link
G C16orf92 chromosome 16 open reading frame 92 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:30,023,198...30,027,736
Ensembl chr16:30,023,198...30,027,736 		JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,858,357...29,863,226
Ensembl chr16:29,858,357...29,863,414 		JBrowse link
G CORO1A coronin 1A IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8		 ClinVar
OMIM		 PMID:2825199 PMID:9536098 PMID:14615364 PMID:16199547 PMID:17576681 More... NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076 		JBrowse link
G CORO1A-AS1 CORO1A antisense RNA 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,183,393...30,184,788 JBrowse link
G DOC2A double C2 domain alpha IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:30,005,514...30,023,228
Ensembl chr16:30,005,514...30,023,270 		JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:30,104,810...30,113,537
Ensembl chr16:30,104,810...30,113,537 		JBrowse link
G HIRIP3 HIRA interacting protein 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,992,321...29,996,096
Ensembl chr16:29,992,330...29,996,074 		JBrowse link
G INO80E INO80 complex subunit E IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,996,241...30,005,791
Ensembl chr16:29,995,715...30,005,793 		JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,906,339...29,926,226
Ensembl chr16:29,905,012...29,926,236 		JBrowse link
G KIF22 kinesin family member 22 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G LOC121587541 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30198450-30198989 IAGP ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18836449 PMID:25073507 More... NCBI chr16:30,187,129...30,187,668 JBrowse link
G LOC125146441 Sharpr-MPRA regulatory region 9068 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,113,508...30,113,802 JBrowse link
G LOC130058808 ATAC-STARR-seq lymphoblastoid active region 10688 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,074,716...30,074,895 JBrowse link
G LOC130058809 ATAC-STARR-seq lymphoblastoid silent region 7351 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,076,268...30,076,407 JBrowse link
G LOC130058810 ATAC-STARR-seq lymphoblastoid active region 10689 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,076,518...30,076,607 JBrowse link
G LOC130058811 ATAC-STARR-seq lymphoblastoid silent region 7352 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,091,914...30,092,173 JBrowse link
G LOC130058812 ATAC-STARR-seq lymphoblastoid active region 10690 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,092,394...30,092,583 JBrowse link
G LOC130058813 ATAC-STARR-seq lymphoblastoid silent region 7356 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,123,212...30,123,581 JBrowse link
G LOC130058814 ATAC-STARR-seq lymphoblastoid active region 10691 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,135,364...30,135,693 JBrowse link
G LOC130058815 ATAC-STARR-seq lymphoblastoid active region 10692 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,166,086...30,166,345 JBrowse link
G LOC130058816 ATAC-STARR-seq lymphoblastoid active region 10693 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,182,355...30,182,464 JBrowse link
G LOC130058817 ATAC-STARR-seq lymphoblastoid silent region 7357 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,183,185...30,183,294 JBrowse link
G LOC130058818 ATAC-STARR-seq lymphoblastoid silent region 7358 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,183,435...30,183,894 JBrowse link
G LOC130058819 ATAC-STARR-seq lymphoblastoid active region 10695 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,186,415...30,186,564 JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:16199547 PMID:25741868 PMID:26206937 PMID:26768763 PMID:28492532 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506 		JBrowse link
G MAZ MYC associated zinc finger protein IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,806,124...29,811,164
Ensembl chr16:29,806,106...29,811,164 		JBrowse link
G MVP major vault protein IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,820,394...29,848,039
Ensembl chr16:29,820,394...29,848,039 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,816,152...29,822,489
Ensembl chr16:29,816,152...29,822,489 		JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:30,075,994...30,085,376
Ensembl chr16:30,075,978...30,085,376 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G RHOH ras homolog family member H IAGP ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,011...40,246,967 		JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,871,159...29,899,550
Ensembl chr16:29,871,159...29,899,550 		JBrowse link
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION ClinVar PMID:28492532 NCBI chr16:30,193,843...30,197,566
Ensembl chr16:30,193,875...30,197,561 		JBrowse link
G SULT1A3 sulfotransferase family 1A member 3 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION ClinVar PMID:28492532 NCBI chr16:30,199,255...30,204,310
Ensembl chr16:30,199,228...30,204,310 		JBrowse link
G TAOK2 TAO kinase 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,973,868...29,992,261
Ensembl chr16:29,973,868...29,992,261 		JBrowse link
G TBX6 T-box transcription factor 6 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924 		JBrowse link
G TLCD3B TLC domain containing 3B IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:30,024,427...30,053,040
Ensembl chr16:30,024,427...30,052,978 		JBrowse link
G TMEM219 transmembrane protein 219 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:29,962,079...29,973,048
Ensembl chr16:29,940,885...29,973,050 		JBrowse link
G YPEL3 yippee like 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr16:30,092,314...30,096,213
Ensembl chr16:30,092,314...30,096,915 		JBrowse link
G YPEL3-DT YPEL3 divergent transcript IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr16:30,096,430...30,105,456
Ensembl chr16:30,096,430...30,105,193 		JBrowse link
immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC124418421 Sharpr-MPRA regulatory region 9588 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:4,091,459...4,091,753 JBrowse link
G STIM1 stromal interaction molecule 1 IAGP
EXP		 ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency
ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
Immunodeficiency 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD3D CD3 delta subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705 		JBrowse link
G IL7R interleukin 7 receptor IAGP ClinVar Annotator: match by term: Immunodeficiency 104
ClinVar Annotator: match by term: IL7R-related condition		 OMIM
ClinVar		 PMID:9536098 PMID:9843216 PMID:10899029 PMID:11023514 PMID:15615257 More... NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G LOC129993794 ATAC-STARR-seq lymphoblastoid active region 22471 IAGP ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:21664875 PMID:26123418 PMID:27807805 PMID:28492532 NCBI chr 5:35,869,768...35,869,817 JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C IAGP ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:7621884 PMID:9536098 PMID:10700239 PMID:11101853 PMID:11528386 More... NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,757,476 		JBrowse link
G RAG1 recombination activating 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RAG2 recombination activating 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:20603253 PMID:21131235 PMID:24481607 PMID:25741868 PMID:26476733 More... NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency 105 OMIM
ClinVar		 PMID:7621884 PMID:9068311 PMID:10700239 PMID:11101853 PMID:11145714 More... NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,757,476 		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 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 7:2,679,522...2,765,138
Ensembl chr 7:2,679,522...2,775,500 		JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G CARD11 caspase recruitment domain family member 11 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18323416 PMID:23027925 More... NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228 		JBrowse link
G CARD11-AS1 CARD11 antisense RNA 1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:16199547 PMID:18323416 PMID:23027925 PMID:23129749 PMID:23149938 More... NCBI chr 7:2,944,035...2,947,087
Ensembl chr 7:2,944,035...2,947,091 		JBrowse link
G GNA12 G protein subunit alpha 12 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 7:2,728,105...2,844,308
Ensembl chr 7:2,721,822...2,870,786 		JBrowse link
G IQCE IQ motif containing E IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 7:2,558,979...2,614,728
Ensembl chr 7:2,558,972...2,614,733 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G LOC129997847 ATAC-STARR-seq lymphoblastoid silent region 17890 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:28492532 NCBI chr 7:2,954,683...2,954,742 JBrowse link
G TTYH3 tweety family member 3 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 7:2,631,986...2,664,802
Ensembl chr 7:2,631,961...2,664,802 		JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G AP3M2 adaptor related protein complex 3 subunit mu 2 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,153,063...42,171,183
Ensembl chr 8:42,152,946...42,171,673 		JBrowse link
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,752,620...42,768,786
Ensembl chr 8:42,752,620...42,796,392 		JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,697,366...42,737,407
Ensembl chr 8:42,697,366...42,737,407 		JBrowse link
G DKK4 dickkopf WNT signaling pathway inhibitor 4 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,374,063...42,391,322
Ensembl chr 8:42,374,063...42,377,229 		JBrowse link
G FNTA farnesyltransferase, CAAX box, subunit alpha IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:43,056,323...43,085,785
Ensembl chr 8:43,034,194...43,085,788 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B OMIM
ClinVar		 PMID:9536098 PMID:10195897 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G LOC126860373 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:42150166-42151365 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:42,292,648...42,293,847 JBrowse link
G PLAT plasminogen activator, tissue type IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G POLB DNA polymerase beta IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,338,494...42,371,808
Ensembl chr 8:42,338,454...42,371,808 		JBrowse link
G POMK protein O-mannose kinase IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SMIM19 small integral membrane protein 19 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,541,148...42,555,195
Ensembl chr 8:42,541,155...42,555,195 		JBrowse link
G THAP1 THAP domain containing 1 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G VDAC3 voltage dependent anion channel 3 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,391,880...42,405,937
Ensembl chr 8:42,391,624...42,405,937 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,149,052...119,162,666
Ensembl chr11:119,149,052...119,162,653 		JBrowse link
G APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOA4 apolipoprotein A4 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G APOC3 apolipoprotein C3 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G ARCN1 archain 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:120,336,413...120,489,937
Ensembl chr11:120,336,413...120,489,937 		JBrowse link
G ATP5MG ATP synthase membrane subunit g IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,401,606...118,409,847
Ensembl chr11:118,401,346...118,433,278 		JBrowse link
G BACE1 beta-secretase 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,285,698...117,316,256
Ensembl chr11:117,285,232...117,316,259 		JBrowse link
G BACE1-AS BACE1 antisense RNA IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,291,346...117,292,170
Ensembl chr11:117,288,453...117,293,578 		JBrowse link
G BCL9L BCL9 like IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,896,136...118,925,926
Ensembl chr11:118,893,875...118,925,926 		JBrowse link
G C1QTNF5 C1q and TNF related 5 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G C2CD2L C2CD2 like IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,102,249...119,118,544
Ensembl chr11:119,102,198...119,118,544 		JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Immunodeficiency 19 OMIM
ClinVar		 PMID:1635567 PMID:8490660 PMID:9536098 PMID:10935641 PMID:14602880 More... NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,998,138...119,015,793
Ensembl chr11:118,998,138...119,015,793 		JBrowse link
G CEP164 centrosomal protein 164 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,883,892...118,897,787
Ensembl chr11:118,883,892...118,897,787 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,190,254...119,195,841
Ensembl chr11:119,190,250...119,196,769 		JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,427,772...117,817,514
Ensembl chr11:117,427,772...117,817,525 		JBrowse link
G FOXR1 forkhead box R1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,971,761...118,981,287
Ensembl chr11:118,971,712...118,981,287 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698 		JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,836,981...117,877,430
Ensembl chr11:117,836,976...117,877,486 		JBrowse link
G FXYD6-FXYD2 FXYD6-FXYD2 readthrough IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,820,057...117,876,658
Ensembl chr11:117,820,163...117,876,667 		JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:120,511,748...120,988,906
Ensembl chr11:120,511,746...120,988,906 		JBrowse link
G H2AX H2A.X variant histone IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,874...119,095,465 		JBrowse link
G HINFP histone H4 transcription factor IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,121,580...119,136,059
Ensembl chr11:119,121,580...119,136,059 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227 		JBrowse link
G IFT46 intraflagellar transport 46 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,544,543...118,576,898
Ensembl chr11:118,544,528...118,572,970 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G JAML junction adhesion molecule like IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,193,725...118,225,011
Ensembl chr11:118,193,725...118,225,092 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G MCAM melanoma cell adhesion molecule IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,308,529...119,317,130
Ensembl chr11:119,308,529...119,321,521 		JBrowse link
G MFRP membrane frizzled-related protein IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
G MPZL2 myelin protein zero like 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536 		JBrowse link
G MPZL3 myelin protein zero like 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,226,690...118,252,365
Ensembl chr11:118,226,690...118,252,365 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,185,475...119,190,213
Ensembl chr11:119,185,457...119,190,223 		JBrowse link
G NLRX1 NLR family member X1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,168,334...119,184,016
Ensembl chr11:119,166,568...119,184,016 		JBrowse link
G OAF out at first homolog IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:120,211,032...120,230,334
Ensembl chr11:120,211,032...120,230,334 		JBrowse link
G PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,144,287...117,178,173
Ensembl chr11:117,144,284...117,176,894 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,204,337...117,232,073
Ensembl chr11:117,204,337...117,232,525 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031 		JBrowse link
G POU2F3 POU class 2 homeobox 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:120,236,638...120,319,945
Ensembl chr11:120,236,640...120,319,945 		JBrowse link
G RNF214 ring finger protein 214 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,232,671...117,286,454
Ensembl chr11:117,232,625...117,286,454 		JBrowse link
G RNF26 ring finger protein 26 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,334,527...119,337,309
Ensembl chr11:119,334,527...119,337,309 		JBrowse link
G RPS25 ribosomal protein S25 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,015,717...119,018,343
Ensembl chr11:119,015,712...119,018,691 		JBrowse link
G SC5D sterol-C5-desaturase IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888 		JBrowse link
G SIDT2 SID1 transmembrane family member 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,178,743...117,197,442
Ensembl chr11:117,178,736...117,197,445 		JBrowse link
G SIK3 SIK family kinase 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SORL1 sortilin related receptor 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763 		JBrowse link
G TAGLN transgelin IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,199,294...117,207,465
Ensembl chr11:117,199,370...117,207,464 		JBrowse link
G TBCEL tubulin folding cofactor E like IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:121,024,102...121,090,776
Ensembl chr11:121,024,072...121,090,776 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G THY1 Thy-1 cell surface antigen IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,415,476...119,424,985
Ensembl chr11:119,415,476...119,424,985 		JBrowse link
G TLCD5 TLC domain containing 5 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:120,325,299...120,333,686
Ensembl chr11:120,325,296...120,333,686 		JBrowse link
G TMEM25 transmembrane protein 25 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,531,192...118,547,286
Ensembl chr11:118,531,041...118,547,280 		JBrowse link
G TMPRSS13 transmembrane serine protease 13 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,900,641...117,929,402
Ensembl chr11:117,900,641...117,929,459 		JBrowse link
G TMPRSS4 transmembrane serine protease 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,077,078...118,125,505
Ensembl chr11:118,077,012...118,125,510 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454 		JBrowse link
G TREH trehalase IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,657,316...118,679,650
Ensembl chr11:118,657,316...118,679,690 		JBrowse link
G TRIM29 tripartite motif containing 29 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:120,111,286...120,138,113
Ensembl chr11:120,111,286...120,185,529 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,527,474...118,530,993
Ensembl chr11:118,527,472...118,531,197 		JBrowse link
G UBE4A ubiquitination factor E4A IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,359,600...118,399,211
Ensembl chr11:118,359,600...118,399,211 		JBrowse link
G UPK2 uroplakin 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:118,956,298...118,958,559
Ensembl chr11:118,925,164...118,958,559 		JBrowse link
G USP2 ubiquitin specific peptidase 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,355,215...119,381,690
Ensembl chr11:119,355,215...119,381,711 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
immunodeficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LCK LCK proto-oncogene, Src family tyrosine kinase IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22985903 PMID:25741868 More... NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165 		JBrowse link
immunodeficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTPS1 CTP synthase 1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24870241 More... NCBI chr 1:40,979,696...41,012,565
Ensembl chr 1:40,979,300...41,012,565 		JBrowse link
G LOC126805717 MED14-independent group 3 enhancer GRCh37_chr1:41472557-41473756 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:25741868 PMID:28492532 PMID:30899265 NCBI chr 1:41,006,885...41,008,084 JBrowse link
G SCMH1 Scm polycomb group protein homolog 1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 1:41,027,202...41,242,306
Ensembl chr 1:41,027,202...41,242,306 		JBrowse link
G SLFNL1 schlafen like 1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 1:41,015,597...41,021,725
Ensembl chr 1:41,015,589...41,023,237 		JBrowse link
immunodeficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLXN calaxin IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311 		JBrowse link
G LOC121740717 Sharpr-MPRA regulatory region 7649 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:47,826,568...47,826,862 JBrowse link
G LOC129929030 ATAC-STARR-seq lymphoblastoid silent region 19177 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr 8:47,960,005...47,960,304 JBrowse link
G LOC130000337 ATAC-STARR-seq lymphoblastoid silent region 19176 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr 8:47,959,945...47,959,994 JBrowse link
G MCM4 minichromosome maintenance complex component 4 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr 8:47,960,941...47,978,160
Ensembl chr 8:47,960,185...47,978,160 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19075392 PMID:23722905 More... NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr 8:48,917,598...48,921,429
Ensembl chr 8:48,917,598...48,921,740 		JBrowse link
G UBE2V2 ubiquitin conjugating enzyme E2 V2 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr 8:47,997,437...48,064,708
Ensembl chr 8:48,008,415...48,064,708 		JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency
ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Immunodeficiency 48 | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency		 OMIM
ClinVar		 PMID:8124727 PMID:8202712 PMID:8202713 PMID:9536098 PMID:10574909 More... NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		JBrowse link
immunodeficiency 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL11B BCL11 transcription factor B IAGP ClinVar Annotator: match by term: Immunodeficiency 49
ClinVar Annotator: match by term: BCL11B-related BAFopathy		 ClinVar
OMIM		 PMID:25627829 PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 More... NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197 		JBrowse link
immunodeficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPD 4-hydroxyphenylpyruvate dioxygenase IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency ClinVar PMID:16582901 PMID:20004786 PMID:26070885 PMID:28492532 NCBI chr12:121,839,527...121,888,611
Ensembl chr12:121,839,527...121,863,596 		JBrowse link
G LOC130008987 ATAC-STARR-seq lymphoblastoid silent region 4981 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency
ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 9		 ClinVar PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 PMID:19182790 More... NCBI chr12:121,626,410...121,627,299 JBrowse link
G MORN3 MORN repeat containing 3 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency ClinVar PMID:16582901 PMID:20004786 PMID:26070885 PMID:28492532 NCBI chr12:121,648,742...121,672,644
Ensembl chr12:121,648,742...121,672,631 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP
EXP		 ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency
ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 9
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:7531512 PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 More... NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218 		JBrowse link
G RHOF ras homolog family member F, filopodia associated IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency ClinVar PMID:16582901 PMID:20004786 PMID:26070885 PMID:28492532 NCBI chr12:121,777,754...121,793,688
Ensembl chr12:121,777,754...121,803,403 		JBrowse link
G SETD1B SET domain containing 1B, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency ClinVar PMID:16582901 PMID:20004786 PMID:26070885 PMID:28492532 NCBI chr12:121,790,155...121,832,656
Ensembl chr12:121,804,009...121,832,656 		JBrowse link
G TMEM120B transmembrane protein 120B IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency ClinVar PMID:16582901 PMID:20004786 PMID:26070885 PMID:28492532 NCBI chr12:121,712,752...121,782,068
Ensembl chr12:121,712,752...121,783,001 		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 IAGP ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities ClinVar
OMIM		 PMID:25741868 PMID:28132690 PMID:28148688 PMID:28492532 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
MHC class I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT4 beta-1,3-galactosyltransferase 4 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,277,123...33,278,825
Ensembl chr 6:33,277,123...33,284,832 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G CUTA cutA divalent cation tolerance homolog IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,416,442...33,418,107
Ensembl chr 6:33,416,442...33,418,317 		JBrowse link
G DAXX death domain associated protein IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016 		JBrowse link
G HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,204,655...33,206,831
Ensembl chr 6:33,204,655...33,206,831 		JBrowse link
G KIFC1 kinesin family member C1 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,391,461...33,409,896
Ensembl chr 6:33,391,823...33,409,896 		JBrowse link
G LOC107648851 meiotic recombination hotspot TAP2 IAGP ClinVar Annotator: match by term: MHC class I deficiency
ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: MHC class I deficiency		 ClinVar PMID:7517574 PMID:11529920 PMID:12067308 PMID:16199547 PMID:23662797 More... NCBI chr 6:32,835,539...32,837,694 JBrowse link
G MIR219A1 microRNA 219a-1 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,207,835...33,207,944
Ensembl chr 6:33,207,835...33,207,944 		JBrowse link
G PFDN6 prefoldin subunit 6 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,289,197...33,290,934
Ensembl chr 6:33,289,302...33,298,401 		JBrowse link
G PHF1 PHD finger protein 1 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,410,412...33,416,439
Ensembl chr 6:33,410,399...33,416,453 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:7517574 PMID:11529920 PMID:12067308 PMID:23662797 PMID:28492532 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSMB8-AS1 PSMB8 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:25741868 PMID:28161407 PMID:28492532 NCBI chr 6:32,844,086...32,846,500
Ensembl chr 6:32,844,078...32,846,500 		JBrowse link
G RGL2 ral guanine nucleotide dissociation stimulator like 2 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,291,654...33,301,612
Ensembl chr 6:33,291,654...33,298,942 		JBrowse link
G RING1 ring finger protein 1 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,208,500...33,212,716
Ensembl chr 6:33,208,500...33,212,722 		JBrowse link
G RPS18 ribosomal protein S18 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,272,075...33,276,511
Ensembl chr 6:33,272,075...33,276,511 		JBrowse link
G RXRB retinoid X receptor beta IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,193,588...33,200,853
Ensembl chr 6:33,193,588...33,200,665 		JBrowse link
G SLC39A7 solute carrier family 39 member 7 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP ClinVar Annotator: match by term: MHC class I deficiency
ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: MHC class I deficiency		 ClinVar
OMIM		 PMID:1570316 PMID:3891604 PMID:8640228 PMID:9536098 PMID:10074494 More... NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar Annotator: match by term: MHC class I deficiency
ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: MHC class I deficiency		 ClinVar PMID:1570316 PMID:7517574 PMID:9536098 PMID:10560675 PMID:11529920 More... NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
G TAPBP TAP binding protein IAGP ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: MHC class I deficiency		 ClinVar PMID:9536098 PMID:12149238 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 6:33,299,694...33,314,078
Ensembl chr 6:33,299,694...33,314,284 		JBrowse link
G VPS52 VPS52 subunit of GARP complex IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,250,272...33,271,965
Ensembl chr 6:33,250,272...33,272,047 		JBrowse link
G WDR46 WD repeat domain 46 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,279,108...33,289,239
Ensembl chr 6:33,279,108...33,289,247 		JBrowse link
G ZBTB22 zinc finger and BTB domain containing 22 IAGP ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 6:33,314,418...33,317,942
Ensembl chr 6:33,314,406...33,317,942 		JBrowse link
MHC CLASS I DEFICIENCY 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107648851 meiotic recombination hotspot TAP2 IAGP ClinVar Annotator: match by term: TAP2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:32,835,539...32,837,694 JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP ClinVar Annotator: match by term: TAP2-related condition
ClinVar Annotator: match by term: MHC class I deficiency 2		 OMIM
ClinVar		 PMID:7517574 PMID:11529920 PMID:12067308 PMID:23662797 PMID:24033266 More... NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
MHC CLASS I DEFICIENCY 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAPBP TAP binding protein IAGP ClinVar Annotator: match by term: MHC class I deficiency 3 ClinVar PMID:12149238 NCBI chr 6:33,299,694...33,314,078
Ensembl chr 6:33,299,694...33,314,284 		JBrowse link
MHC class II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575 		JBrowse link
G ADAM15 ADAM metallopeptidase domain 15 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,051,316...155,062,775
Ensembl chr 1:155,050,566...155,062,775 		JBrowse link
G ADAMTSL4 ADAMTS like 4 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,549,408...150,560,937
Ensembl chr 1:150,549,369...150,560,937 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:9118943 PMID:22390233 PMID:28492532 NCBI chr13:36,949,738...36,999,367
Ensembl chr13:36,949,738...37,000,763 		JBrowse link
G ANP32E acidic nuclear phosphoprotein 32 family member E IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,218,417...150,236,112
Ensembl chr 1:150,218,417...150,236,156 		JBrowse link
G ANXA9 annexin A9 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,977,306...150,995,634
Ensembl chr 1:150,982,249...150,995,634 		JBrowse link
G APH1A aph-1 homolog A, gamma-secretase subunit IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,265,404...150,269,016
Ensembl chr 1:150,265,399...150,269,580 		JBrowse link
G AQP10 aquaporin 10 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,321,093...154,325,325
Ensembl chr 1:154,321,090...154,325,325 		JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,946,854...155,979,617
Ensembl chr 1:155,946,851...156,007,070 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,809,713...150,876,599
Ensembl chr 1:150,809,713...150,876,708 		JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162 		JBrowse link
G ATF7IP2 activating transcription factor 7 interacting protein 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:10,386,061...10,483,638
Ensembl chr16:10,326,434...10,483,638 		JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,325,525...154,351,304
Ensembl chr 1:154,325,525...154,351,304 		JBrowse link
G BCAN brevican IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,642,117...156,659,528
Ensembl chr 1:156,641,390...156,659,532 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G BNIPL BCL2 interacting protein like IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,036,586...151,047,720
Ensembl chr 1:151,036,321...151,047,720 		JBrowse link
G C1orf43 chromosome 1 open reading frame 43 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,206,720...154,220,590
Ensembl chr 1:154,206,696...154,220,637 		JBrowse link
G C1orf54 chromosome 1 open reading frame 54 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,268,731...150,280,924
Ensembl chr 1:150,268,200...150,280,916 		JBrowse link
G C1orf56 chromosome 1 open reading frame 56 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,047,751...151,051,420
Ensembl chr 1:151,047,751...151,051,986 		JBrowse link
G C2CD4D C2 calcium dependent domain containing 4D IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,837,818...151,840,557
Ensembl chr 1:151,837,818...151,840,557 		JBrowse link
G CA14 carbonic anhydrase 14 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,257,774...150,265,078
Ensembl chr 1:150,257,251...150,265,078 		JBrowse link
G CARHSP1 calcium regulated heat stable protein 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:8,852,942...8,869,006
Ensembl chr16:8,852,942...8,869,012 		JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,308,968...156,338,292
Ensembl chr 1:156,308,968...156,367,873 		JBrowse link
G CDC42SE1 CDC42 small effector 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,050,985...151,059,622
Ensembl chr 1:151,050,971...151,070,325 		JBrowse link
G CELF3 CUGBP Elav-like family member 3 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,700,058...151,716,803
Ensembl chr 1:151,700,058...151,716,803 		JBrowse link
G CERS2 ceramide synthase 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,965,186...150,974,835
Ensembl chr 1:150,960,583...150,975,003 		JBrowse link
G CFAP141 cilia and flagella associated protein 141 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,199,085...154,206,333
Ensembl chr 1:154,199,085...154,206,333 		JBrowse link
G CGN cingulin IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,510,170...151,538,692
Ensembl chr 1:151,510,510...151,538,692 		JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,567,778...154,580,013
Ensembl chr 1:154,567,778...154,580,013 		JBrowse link
G CHTOP chromatin target of PRMT1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,634,066...153,646,306
Ensembl chr 1:153,633,982...153,646,306 		JBrowse link
G CIART circadian associated repressor of transcription IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,282,554...150,287,093
Ensembl chr 1:150,282,543...150,287,093 		JBrowse link
G CIITA class II major histocompatibility complex transactivator severity IAGP
ISS		 DNA:nonsense mutation:CDS:c.1256G>T, p.E381X (allele 1); DNA:splice-site mutation/deletion:CDS:p.D1078E/c.3349_3432del, p.1079_1106del (allele 2)
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: SCID, HLA Class 2-Negative
OMIM:209920
ClinVar Annotator: match by term: BLS, TYPE II
DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells		 ClinVar
MouseDO
RGD		 PMID:8402893 PMID:9099848 PMID:9536098 PMID:11704716 PMID:11862382 More... RGD:1600188, RGD:5491200 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CKS1B CDC28 protein kinase regulatory subunit 1B IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,974,681...154,979,251
Ensembl chr 1:154,974,653...154,979,251 		JBrowse link
G CLEC16A C-type lectin domain containing 16A IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr16:10,944,564...11,182,186
Ensembl chr16:10,944,539...11,182,186 		JBrowse link
G CLK2 CDC like kinase 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,262,868...155,273,504
Ensembl chr 1:155,262,868...155,278,491 		JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,699,606...156,705,784
Ensembl chr 1:156,699,606...156,705,816 		JBrowse link
G CRCT1 cysteine rich C-terminal 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,514,482...152,516,008
Ensembl chr 1:152,514,482...152,516,008 		JBrowse link
G CREB3L4 cAMP responsive element binding protein 3 like 4 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,967,487...153,974,359
Ensembl chr 1:153,967,534...153,974,361 		JBrowse link
G CRNN cornulin IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,409,243...152,414,263
Ensembl chr 1:152,409,243...152,414,263 		JBrowse link
G CRTC2 CREB regulated transcription coactivator 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,947,675...153,958,612
Ensembl chr 1:153,947,669...153,958,615 		JBrowse link
G CTSK cathepsin K IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G CTSS cathepsin S IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,079...150,765,957 		JBrowse link
G DAP3 death associated protein 3 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,687,948...155,739,010
Ensembl chr 1:155,687,960...155,739,010 		JBrowse link
G DCST1 DC-STAMP domain containing 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,033,806...155,050,930
Ensembl chr 1:155,033,824...155,050,930 		JBrowse link
G DCST2 DC-STAMP domain containing 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,018,527...155,033,781
Ensembl chr 1:155,018,520...155,033,781 		JBrowse link
G DENND4B DENN domain containing 4B IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,929,501...153,946,894
Ensembl chr 1:153,929,501...153,946,718 		JBrowse link
G DEXI Dexi homolog IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr16:10,928,891...10,942,468
Ensembl chr16:10,928,891...10,942,468 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595 		JBrowse link
G ECM1 extracellular matrix protein 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789 		JBrowse link
G EFNA1 ephrin A1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,127,876...155,134,899
Ensembl chr 1:155,127,876...155,134,899 		JBrowse link
G EFNA3 ephrin A3 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,078,837...155,087,538
Ensembl chr 1:155,078,837...155,087,538 		JBrowse link
G EFNA4 ephrin A4 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,063,740...155,069,553
Ensembl chr 1:155,063,737...155,069,553 		JBrowse link
G EMP2 epithelial membrane protein 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632 		JBrowse link
G ENSA endosulfine alpha IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,621,246...150,629,612
Ensembl chr 1:150,600,851...150,629,612 		JBrowse link
G ENTREP3 endosomal transmembrane epsin interactor 3 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,247,205...155,255,483
Ensembl chr 1:155,247,205...155,255,483 		JBrowse link
G EXOSC8 exosome component 8 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:9118943 PMID:22390233 PMID:28492532 NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881 		JBrowse link
G FALEC focally amplified long non-coding RNA in epithelial cancer IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,515,752...150,536,788
Ensembl chr 1:150,515,757...150,518,032 		JBrowse link
G FDPS farnesyl diphosphate synthase IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,308,866...155,320,665
Ensembl chr 1:155,308,748...155,320,666 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,983,344...154,993,111
Ensembl chr 1:154,983,338...154,993,111 		JBrowse link
G FLG filaggrin IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239 		JBrowse link
G FLG2 filaggrin 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,348,735...152,360,006
Ensembl chr 1:152,348,735...152,360,006 		JBrowse link
G GABPB2 GA binding protein transcription factor subunit beta 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,070,761...151,125,542
Ensembl chr 1:151,070,578...151,125,542 		JBrowse link
G GATAD2B GATA zinc finger domain containing 2B IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GLMP glycosylated lysosomal membrane protein IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,292,688...156,295,679
Ensembl chr 1:156,290,089...156,295,689 		JBrowse link
G GOLPH3L golgi phosphoprotein 3 like IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,646,230...150,697,154
Ensembl chr 1:150,646,230...150,697,154 		JBrowse link
G GON4L gon-4 like IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,745,112...155,859,431
Ensembl chr 1:155,749,659...155,859,400 		JBrowse link
G GPATCH4 G-patch domain containing 4 (gene/pseudogene) IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,594,301...156,601,479
Ensembl chr 1:156,594,301...156,601,496 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928 		JBrowse link
G HAPLN2 hyaluronan and proteoglycan link protein 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,601,504...156,625,725
Ensembl chr 1:156,619,331...156,625,725 		JBrowse link
G HAPSTR1 HUWE1 associated protein modifying stress responses IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr16:9,091,644...9,121,635
Ensembl chr16:9,091,644...9,121,635 		JBrowse link
G HAX1 HCLS1 associated protein X-1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,272,629...154,275,875
Ensembl chr 1:154,272,355...154,275,875 		JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,277,463...155,289,848
Ensembl chr 1:155,277,463...155,289,848 		JBrowse link
G HDGF heparin binding growth factor IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,742,107...156,767,366
Ensembl chr 1:156,742,109...156,766,925 		JBrowse link
G HORMAD1 HORMA domain containing 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,698,060...150,720,895
Ensembl chr 1:150,698,060...150,720,895 		JBrowse link
G HRNR hornerin IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,212,076...152,224,193
Ensembl chr 1:152,212,076...152,224,193 		JBrowse link
G IL6R interleukin 6 receptor IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G ILF2 interleukin enhancer binding factor 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,661,788...153,670,993
Ensembl chr 1:153,661,788...153,671,028 		JBrowse link
G INSRR insulin receptor related receptor IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,840,063...156,859,117
Ensembl chr 1:156,840,063...156,859,117 		JBrowse link
G INTS3 integrator complex subunit 3 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,728,050...153,774,808
Ensembl chr 1:153,728,050...153,774,808 		JBrowse link
G IQGAP3 IQ motif containing GTPase activating protein 3 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,525,405...156,572,565
Ensembl chr 1:156,525,405...156,572,604 		JBrowse link
G ISG20L2 interferon stimulated exonuclease gene 20 like 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,721,891...156,728,766
Ensembl chr 1:156,721,891...156,728,766 		JBrowse link
G IVL involucrin IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,908,546...152,911,886
Ensembl chr 1:152,908,546...152,911,886 		JBrowse link
G JTB jumping translocation breakpoint IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,974,269...153,977,674
Ensembl chr 1:153,974,269...153,977,674 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KHDC4 KH domain containing 4, pre-mRNA splicing factor IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,913,045...155,934,413
Ensembl chr 1:155,913,045...155,934,413 		JBrowse link
G KPLCE KPRP N-terminal and LCE C-terminal like protein IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,719,522...152,720,470
Ensembl chr 1:152,719,522...152,720,470 		JBrowse link
G KPRP keratinocyte proline rich protein IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,758,025...152,762,056
Ensembl chr 1:152,758,025...152,762,056 		JBrowse link
G KRTCAP2 keratinocyte associated protein 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,169,408...155,173,304
Ensembl chr 1:155,169,408...155,173,475 		JBrowse link
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,054,782...156,058,506
Ensembl chr 1:156,054,782...156,058,506 		JBrowse link
G LCE1A late cornified envelope 1A IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,827,473...152,828,097
Ensembl chr 1:152,827,473...152,828,097 		JBrowse link
G LCE1B late cornified envelope 1B IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,811,971...152,813,108
Ensembl chr 1:152,811,971...152,813,108 		JBrowse link
G LCE1C late cornified envelope 1C IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,804,832...152,806,651
Ensembl chr 1:152,804,832...152,806,651 		JBrowse link
G LCE1D late cornified envelope 1D IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,796,721...152,798,181
Ensembl chr 1:152,796,721...152,798,181 		JBrowse link
G LCE1E late cornified envelope 1E IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,786,257...152,788,426
Ensembl chr 1:152,786,214...152,788,426 		JBrowse link
G LCE1F late cornified envelope 1F IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,775,140...152,777,024
Ensembl chr 1:152,775,140...152,777,024 		JBrowse link
G LCE2A late cornified envelope 2A IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,698,345...152,699,442
Ensembl chr 1:152,698,345...152,699,442 		JBrowse link
G LCE2B late cornified envelope 2B IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,686,123...152,687,397
Ensembl chr 1:152,686,123...152,687,397 		JBrowse link
G LCE2C late cornified envelope 2C IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,675,279...152,676,569
Ensembl chr 1:152,675,279...152,676,569 		JBrowse link
G LCE2D late cornified envelope 2D IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,663,380...152,664,659
Ensembl chr 1:152,663,380...152,664,659 		JBrowse link
G LCE3A late cornified envelope 3A IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,622,834...152,623,103
Ensembl chr 1:152,622,834...152,623,103 		JBrowse link
G LCE3B late cornified envelope 3B IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,613,811...152,614,098
Ensembl chr 1:152,613,811...152,614,098 		JBrowse link
G LCE3C late cornified envelope 3C IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,600,234...152,601,086
Ensembl chr 1:152,600,234...152,601,086 		JBrowse link
G LCE3D late cornified envelope 3D IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,579,381...152,580,516
Ensembl chr 1:152,579,381...152,580,516 		JBrowse link
G LCE3E late cornified envelope 3E IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,565,654...152,566,780
Ensembl chr 1:152,565,654...152,566,780 		JBrowse link
G LCE4A late cornified envelope 4A IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,708,160...152,709,434
Ensembl chr 1:152,708,160...152,709,434 		JBrowse link
G LCE5A late cornified envelope 5A IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,510,803...152,512,177
Ensembl chr 1:152,510,803...152,512,177 		JBrowse link
G LCE6A late cornified envelope 6A IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:152,842,856...152,843,983
Ensembl chr 1:152,842,856...152,843,983 		JBrowse link
G LELP1 late cornified envelope like proline rich 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,203,430...153,205,120
Ensembl chr 1:153,203,430...153,205,120 		JBrowse link
G LENEP lens epithelial protein IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:154,993,586...154,994,321
Ensembl chr 1:154,993,586...154,994,315 		JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,800,264...151,805,419
Ensembl chr 1:151,800,264...151,805,419 		JBrowse link
G LITAF lipopolysaccharide induced TNF factor IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr16:11,547,722...11,640,317
Ensembl chr16:11,547,722...11,636,381 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC101928034 uncharacterized LOC101928034 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,545,742...153,551,769 JBrowse link
G LOC126805858 MED14-independent group 3 enhancer GRCh37_chr1:151318990-151320189 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar NCBI chr 1:151,346,514...151,347,713 JBrowse link
G LOC130009573 ATAC-STARR-seq lymphoblastoid silent region 5267 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:9118943 PMID:22390233 PMID:25741868 PMID:28492532 PMID:31589614 NCBI chr13:36,819,140...36,819,509 JBrowse link
G LOC130009574 ATAC-STARR-seq lymphoblastoid active region 7589 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:9118943 PMID:22390233 PMID:25741868 PMID:28492532 NCBI chr13:36,819,740...36,819,789 JBrowse link
G LOC130009575 ATAC-STARR-seq lymphoblastoid active region 7590 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr13:36,819,800...36,820,029 JBrowse link
G LOC130058442 ATAC-STARR-seq lymphoblastoid active region 10393 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar NCBI chr16:10,877,226...10,877,295 JBrowse link
G LOC130058443 ATAC-STARR-seq lymphoblastoid active region 10394 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chr16:10,877,336...10,877,415 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,259,687...153,262,124
Ensembl chr 1:153,259,687...153,262,124 		JBrowse link
G LYSMD1 LysM domain containing 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,148,496...151,165,902
Ensembl chr 1:151,159,748...151,165,948 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,574,558...150,579,610
Ensembl chr 1:150,560,895...150,579,738 		JBrowse link
G MEF2D myocyte enhancer factor 2D IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,463,727...156,500,775
Ensembl chr 1:156,463,727...156,500,779 		JBrowse link
G METTL25B methyltransferase like 25B IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,728,469...156,736,960
Ensembl chr 1:156,728,442...156,736,960 		JBrowse link
G MEX3A mex-3 RNA binding family member A IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,072,013...156,082,465
Ensembl chr 1:156,072,013...156,082,465 		JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,996,536...151,008,393
Ensembl chr 1:150,996,549...151,008,376 		JBrowse link
G MIR9-1 microRNA 9-1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,420,341...156,420,429
Ensembl chr 1:156,420,341...156,420,429 		JBrowse link
G MIR9-1HG MIR9-1 host gene IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,404,252...156,429,548
Ensembl chr 1:156,404,250...156,456,763 		JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,060,397...151,069,544
Ensembl chr 1:151,060,397...151,069,544 		JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,737,303...156,742,716
Ensembl chr 1:156,737,303...156,741,590 		JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,759,647...151,763,496
Ensembl chr 1:151,759,647...151,763,496 		JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:150,293,861...150,308,979
Ensembl chr 1:150,293,861...150,308,979 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MTMR11 myotubularin related protein 11 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:149,928,651...149,936,879
Ensembl chr 1:149,928,651...149,936,879 		JBrowse link
G MTX1 metaxin 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,208,695...155,213,839
Ensembl chr 1:155,208,695...155,213,824 		JBrowse link
G MUC1 mucin 1, cell surface associated IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916 		JBrowse link
G NAXE NAD(P)HX epimerase IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,591,776...156,594,299
Ensembl chr 1:156,591,756...156,609,507 		JBrowse link
G NES nestin IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,668,763...156,677,407
Ensembl chr 1:156,668,763...156,677,407 		JBrowse link
G NPR1 natriuretic peptide receptor 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,678,688...153,693,992
Ensembl chr 1:153,678,688...153,693,992 		JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr19:19,201,409...19,203,414
Ensembl chr19:19,201,409...19,203,414 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chr16:10,743,842...10,769,351
Ensembl chr16:10,743,786...10,769,351 		JBrowse link
G NUP210L nucleoporin 210 like IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:153,992,690...154,155,116
Ensembl chr 1:153,992,690...154,155,116 		JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 IAGP ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 1:151,762,969...151,771,330
Ensembl chr 1:151,762,899...151,771,334 		JBrowse link
G