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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 Reticuloendothelioses;   Familial Reticuloendotheliosis;   SCID;   Severe Combined Immune Deficiency;   Severe Combined Immunodeficiencies;   Severe Combined Immunodeficiency Syndrome;   bare lymphocyte syndromes;   combined T and B cell inborn immunodeficiency;   severe combined immunodeficiency disease;   severe combined immunologic deficiency
 narrow_synonym: Severe combined immunodeficiency disease, autosomal
 primary_id: MESH:D016511
 alt_id: OMIA:000220
 xref: GARD:7628;   NCI:C3472
For additional species annotation, visit the Alliance of Genome Resources.



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severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar
RGD
PMID:498598 PMID:980079 PMID:1284479 PMID:2166947 PMID:2651461 More... RGD:1300353 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Ak2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:28331055 More... NCBI chr 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632
JBrowse link
G C1H9orf66 chromosome 1 open reading frame, human C9orf66 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:32888943
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:15546002 PMID:17576681 PMID:28492532 PMID:14602880 RGD:1549420 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD
ClinVar
PMID:15546002 PMID:28492532 NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
G Dclre1c DNA cross-link repair 1C susceptibility ISO DNA:deletion:exon
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
RGD
PMID:24033266 PMID:25741868 PMID:28492532 PMID:11336668 RGD:1601049 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:32888943 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Epo erythropoietin ISO Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2342538 RGD:1600060 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823
JBrowse link
G Il7r interleukin 7 receptor ISO autosomal recessive T cell(-), B cell(+), NK cell(+) severe combined immunodeficiency, OMIM:608971
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
RGD
PMID:15661025 PMID:16492442 PMID:17827065 PMID:18255337 PMID:18403192 More... RGD:1600151 NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
JBrowse link
G Jak3 Janus kinase 3 treatment ISO ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 More... RGD:11531109 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:16585603 PMID:18845326 PMID:26151233 PMID:28492532 PMID:31604460 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
JBrowse link
G Malt1 MALT1 paracaspase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260
JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:23402911 PMID:25633902 PMID:25741868 PMID:27707659 PMID:28492532 More... NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More... NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO
IMP
RGD PMID:9122213 PMID:22981234 RGD:1599202, RGD:8696027 NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO DNA:deletion
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
RGD
PMID:11145714 RGD:1599983 NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 PMID:28492532 PMID:30723080 NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
JBrowse link
G Rag1 recombination activating 1 ISO
IMP
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
Omenn syndrome, OMIM:179615
ClinVar
RGD
PMID:8810255 PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 More... RGD:1599402, RGD:7204134, RGD:7204131, RGD:1599403 NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Rag1em1Ang recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon IMP RGD PMID:23150522 RGD:7204134
G Rag1em1Ztm recombination activating gene 1; zinc finger nuclease induced mutant 1, Zentrales Tierlaboratorium, Medizinische Hochschule Hannover IMP RGD PMID:23136839 RGD:7204131
G Rag2 recombination activating 2 ISO
IMP
ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar
RGD
PMID:15025726 PMID:18463379 PMID:20603253 PMID:21131235 PMID:21664875 More... RGD:1599402, RGD:38508903 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link
G Rfx5 regulatory factor X5 ISO RGD PMID:7744245 PMID:9401005 RGD:1599743, RGD:1599742 NCBI chr 2:182,521,131...182,528,720
Ensembl chr 2:182,521,202...182,528,717
JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO RGD PMID:12618906 RGD:1599746 NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255
JBrowse link
G Tapbp TAP binding protein ISO type I bare lymphocyte syndrome, OMIM:604571 RGD PMID:12149238 RGD:1599296 NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181
JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642240 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892
JBrowse link
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO selective T-cell defect, OMIM:176947
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8202713 PMID:28492532 PMID:8124727 RGD:1599880 NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700
JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency OMIM
ClinVar
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 More... NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
CD3epsilon deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
JBrowse link
G Apbb2 amyloid beta precursor protein binding family B member 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:41,557,918...41,878,622
Ensembl chr14:41,557,972...41,877,495
JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090
JBrowse link
G Bola2 bolA family member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:181,291,777...181,292,836
Ensembl chr 1:181,291,398...181,292,676
JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
JBrowse link
G Chrna9 cholinergic receptor nicotinic alpha 9 subunit ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,235,218...42,241,939
Ensembl chr14:42,235,226...42,242,192
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Immunodeficiency 8 | ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18836449 PMID:19097825 More... NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
JBrowse link
G Fam114a1 family with sequence similarity 114, member A1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:43,275,693...43,346,227
Ensembl chr14:43,275,701...43,346,174
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079
JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
JBrowse link
G Klhl5 kelch-like family member 5 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:43,144,254...43,206,192
Ensembl chr14:43,144,257...43,184,238
JBrowse link
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
JBrowse link
G Limch1 LIM and calponin homology domains 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:41,112,579...41,425,185
Ensembl chr14:41,114,803...41,425,191
JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:25741868 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:16281286 PMID:16490061 PMID:17075691 PMID:17445044 PMID:22727635 More... NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
JBrowse link
G N4bp2 NEDD4 binding protein 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,342,690...42,479,861
Ensembl chr14:42,409,510...42,483,960
JBrowse link
G Nsun7 NOP2/Sun RNA methyltransferase family member 7 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:41,877,500...41,935,238
Ensembl chr14:41,879,293...41,934,949
JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,622,708...181,624,996 JBrowse link
G Pds5a PDS5 cohesin associated factor A ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,551,653...42,651,074
Ensembl chr14:42,552,647...42,648,669
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
JBrowse link
G Rbm47 RNA binding motif protein 47 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431
JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
JBrowse link
G Rhoh ras homolog family member H ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136
JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
JBrowse link
G Smim14 small integral membrane protein 14 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,783,361...42,829,762
Ensembl chr14:42,783,332...42,829,760
JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
JBrowse link
G Tlr1 toll-like receptor 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
JBrowse link
G Tlr10 toll-like receptor 10 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:43,400,843...43,414,056
Ensembl chr14:43,406,217...43,413,917
JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
JBrowse link
G Tmem156 transmembrane protein 156 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:43,221,464...43,252,453
Ensembl chr14:43,223,381...43,252,449
JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:28492532 NCBI chr 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472
JBrowse link
G Ube2k ubiquitin-conjugating enzyme E2K ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,658,016...42,718,899
Ensembl chr14:42,658,016...42,718,630
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:41,485,033...41,495,590
Ensembl chr14:41,485,031...41,495,590
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
JBrowse link
immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency OMIM
ClinVar
PMID:19420366 PMID:20876309 PMID:21427704 PMID:22190180 PMID:24033266 More... NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
JBrowse link
Immunodeficiency 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il7r interleukin 7 receptor ISO OMIM NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
JBrowse link
Immunodeficiency 105 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprc protein tyrosine phosphatase, receptor type, C ISO OMIM NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
JBrowse link
immunodeficiency 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amz1 archaelysin family metallopeptidase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,886,533...13,924,275
Ensembl chr12:13,891,123...13,909,783
JBrowse link
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18323416 PMID:23129749 PMID:23374270 More... NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112
JBrowse link
G Gna12 G protein subunit alpha 12 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,805,580...13,886,255
Ensembl chr12:13,805,698...13,886,255
JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693
JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008
JBrowse link
G Ttyh3 tweety family member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,996,831...14,025,457
Ensembl chr12:13,997,045...14,025,459
JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,217,526...69,237,372
Ensembl chr16:69,217,633...69,235,431
JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441
JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360
JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,402,989...69,406,580
Ensembl chr16:69,402,989...69,406,580
JBrowse link
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B OMIM
ClinVar
PMID:9536098 PMID:10195897 PMID:17576681 PMID:24033266 PMID:24369075 More... NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,551,470...69,565,450
Ensembl chr16:69,553,916...69,567,245
JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
JBrowse link
G Vdac3 voltage-dependent anion channel 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,434,982...69,451,473
Ensembl chr16:69,435,005...69,451,471
JBrowse link
immunodeficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 19 OMIM
ClinVar
PMID:1635567 PMID:8490660 PMID:9536098 PMID:10935641 PMID:14602880 More... NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency OMIM
ClinVar
PMID:22985903 PMID:25741868 PMID:27087313 PMID:28492532 NCBI chr 5:141,888,319...141,916,992
Ensembl chr 5:141,888,326...141,903,794
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 ISO 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 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 5:133,991,167...134,115,893
Ensembl chr 5:133,990,520...134,122,105
JBrowse link
G Slfnl1 schlafen-like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 5:134,117,634...134,122,105
Ensembl chr 5:133,990,520...134,122,105
JBrowse link
immunodeficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clxn calaxin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:85,977,231...85,996,561
Ensembl chr11:85,983,304...85,996,538
JBrowse link
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:85,258,443...85,272,144
Ensembl chr11:85,258,443...85,272,144
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 26 without neurologic abnormalities | ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19075392 PMID:23722905 PMID:25640679 More... NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:86,183,800...86,186,109
Ensembl chr11:86,181,909...86,186,200
JBrowse link
G Ube2v2 ubiquitin conjugating enzyme E2 V2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:85,304,528...85,338,430
Ensembl chr11:85,304,526...85,336,369
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 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency OMIM
ClinVar
PMID:8124727 PMID:8202712 PMID:8202713 PMID:9536098 PMID:11412303 More... NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700
JBrowse link
immunodeficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orai1 ORAI calcium release-activated calcium modulator 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency OMIM
ClinVar
PMID:7531512 PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 More... NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405
JBrowse link
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Extl3 exostosin-like glycosyltransferase 3 ISO ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities OMIM
ClinVar
PMID:25741868 PMID:28132690 PMID:28148688 PMID:28492532 NCBI chr15:39,294,033...39,384,086
Ensembl chr15:39,293,605...39,338,898
JBrowse link
janus kinase-3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak3 Janus kinase 3 ISS OMIM:600802 MouseDO NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
MHC class I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency OMIM
ClinVar
PMID:1570316 PMID:3891604 PMID:8640228 PMID:9536098 PMID:10074494 More... NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency OMIM
ClinVar
PMID:1570316 PMID:7517574 PMID:9536098 PMID:10560675 PMID:11529920 More... NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by term: MHC class I deficiency OMIM
ClinVar
PMID:12149238 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181
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 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,754,631...174,765,136
Ensembl chr 2:174,754,633...174,765,113
JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,472,600...183,489,057
Ensembl chr 2:183,472,609...183,489,054
JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,873,185...182,884,501
Ensembl chr 2:182,872,929...182,883,374
JBrowse link
G Aph1a aph-1 homolog A, gamma secretase subunit ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955
JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
JBrowse link
G Atf7ip2 activating transcription factor 7 interacting protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:5,403,099...5,445,989
Ensembl chr10:5,403,105...5,446,142
JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883
JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,818,593...182,830,421
Ensembl chr 2:182,818,595...182,828,588
JBrowse link
G C2cd4d C2 calcium-dependent domain containing 4D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:181,997,393...182,001,938
Ensembl chr 2:181,997,078...182,002,087
JBrowse link
G C2H1orf54 chromosome 2 C1orf54 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,424,989...183,434,773
Ensembl chr 2:183,424,984...183,435,089
JBrowse link
G C2h1orf56 similar to human chromosome 1 open reading frame 56 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,814,794...182,818,387
Ensembl chr 2:182,814,793...182,818,512
JBrowse link
G Car14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,442,263...183,449,207
Ensembl chr 2:183,441,667...183,449,693
JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019
JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,765,792...173,790,353
Ensembl chr 2:173,765,698...173,790,757
JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,805,691...182,813,520
Ensembl chr 2:182,804,925...182,814,028
JBrowse link
G Celf3 CUGBP, Elav-like family member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,116,034...182,130,163
Ensembl chr 2:182,116,073...182,130,163
JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314
JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662
JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,308,389...182,335,747
Ensembl chr 2:182,308,714...182,334,645
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,981,266...175,992,854
Ensembl chr 2:175,981,271...175,992,748
JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,419,819...183,424,845
Ensembl chr 2:183,419,819...183,423,313
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator severity ISO DNA:nonsense mutation:CDS:c.1256G>T, p.E381X (allele 1); DNA:splice-site mutation/deletion:CDS:p.D1078E/c.3349_3432del, p.1079_1106del (allele 2) (human)
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group A | ClinVar Annotator: match by term: MHC class II deficiency
DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells (human)
ClinVar
OMIM
RGD
PMID:8402893 PMID:9099848 PMID:9536098 PMID:11704716 PMID:11862382 More... RGD:1600188, RGD:5491200 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,833,025...174,837,614
Ensembl chr 2:174,833,050...174,837,636
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,927,804...5,123,749
Ensembl chr10:4,928,030...5,123,578
JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379
JBrowse link
G Crct1 cysteine-rich C-terminal 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 Ensembl chr 2:178,634,092...178,634,394 JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,690,340...175,696,084
Ensembl chr 2:175,690,335...175,695,932
JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,733,329...178,736,404
Ensembl chr 2:178,731,796...178,736,216
JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763
JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,765,203...174,784,023
Ensembl chr 2:174,765,350...174,781,806
JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,781,806...174,795,834
Ensembl chr 2:174,781,902...174,795,832
JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426
JBrowse link
G Dexi Dexi homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:5,126,021...5,138,746
Ensembl chr10:5,137,288...5,138,738
JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671
JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,681,676...174,690,306
Ensembl chr 2:174,681,682...174,690,866
JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,729,192...174,738,111
Ensembl chr 2:174,729,764...174,738,736
JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,748,729...174,752,979
Ensembl chr 2:174,748,724...174,752,979
JBrowse link
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733
JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,185,552...183,192,888
Ensembl chr 2:183,185,552...183,194,847
JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,588,984...174,595,281
Ensembl chr 2:174,589,337...174,595,281
JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977
JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,888,688...178,912,731 JBrowse link
G Flg2 filaggrin 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,789,792...178,802,232 JBrowse link
G Gabpb2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,755,304...182,795,368
Ensembl chr 2:182,761,359...182,795,109
JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,794,273...173,797,863
Ensembl chr 2:173,794,255...173,799,960
JBrowse link
G Golph3l golgi phosphoprotein 3-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,151,941...183,183,094
Ensembl chr 2:183,153,301...183,183,083
JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634
JBrowse link
G Gpatch4 G patch domain containing 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,499,700...173,520,346
Ensembl chr 2:173,509,897...173,518,684
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588
JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,551,866...174,567,459
Ensembl chr 2:174,551,680...174,565,966
JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747
JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,115,815...183,152,383
Ensembl chr 2:183,116,716...183,152,383
JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,951,002...175,971,193
Ensembl chr 2:175,952,186...175,971,337
JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709
JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,542,151...173,583,956
Ensembl chr 2:173,542,110...173,583,956
JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20-like 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,396,780...173,407,102
Ensembl chr 2:173,396,780...173,406,614
JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100
JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108
JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504
JBrowse link
G Kprp keratinocyte proline-rich protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,429,923...178,434,221
Ensembl chr 2:178,429,923...178,434,221
JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,654,409...174,658,405
Ensembl chr 2:174,654,219...174,658,405
JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013
JBrowse link
G Lce1d late cornified envelope 1D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532
G Lce1f late cornified envelope 1F ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,305,786...178,307,372
Ensembl chr 2:178,305,786...178,307,372
JBrowse link
G Lce1l late cornified envelope 1L ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,462,100...178,463,433
Ensembl chr 2:178,462,100...178,463,433
JBrowse link
G Lce3e late cornified envelope 3E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,579,162...178,579,458
Ensembl chr 2:178,579,162...178,579,458
JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,194,148...178,194,965
Ensembl chr 2:178,194,318...178,194,563
JBrowse link
G Lelp1 late cornified envelope-like proline-rich 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,819,439...174,820,127
Ensembl chr 2:174,819,459...174,820,127
JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,014,326...182,040,787
Ensembl chr 2:182,014,326...182,040,787
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G LOC102552326 late cornified envelope protein 5A-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 Ensembl chr 2:178,275,020...178,275,469 JBrowse link
G LOC686143 similar to keratinocytes proline-rich protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,481,482...178,482,564
Ensembl chr 2:178,481,373...178,483,424
JBrowse link
G LOC686596 similar to aquaporin 10 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815
JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,558,062...177,559,980
Ensembl chr 2:177,558,252...177,559,807
JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457
JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,388,625...173,397,279
Ensembl chr 2:173,388,625...173,397,279
JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,989,491...173,999,567
Ensembl chr 2:173,989,856...173,997,377
JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,859,977...182,873,000
Ensembl chr 2:182,860,472...182,873,015
JBrowse link
G Mllt11 MLLT11, transcription factor 7 cofactor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
JBrowse link
G mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,383,062...173,389,249
Ensembl chr 2:173,383,224...173,389,248
JBrowse link
G mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,082,012...182,086,758
Ensembl chr 2:182,076,369...182,087,095
JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,406,791...183,414,413
Ensembl chr 2:183,406,792...183,414,372
JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216
JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,721,983...183,732,148
Ensembl chr 2:183,723,530...183,732,148
JBrowse link
G Mtx1 Metaxin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,615,460...174,621,383
Ensembl chr 2:174,615,461...174,620,982
JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,518,966...173,521,048
Ensembl chr 2:173,518,971...173,521,040
JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719
JBrowse link
G Ns5atp4l1 NS5A transactivated protein 4 like 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,494,355...175,507,276
Ensembl chr 2:175,494,304...175,510,663
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Nubp1 NUBP iron-sulfur cluster assembly factor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:5,260,237...5,270,835 JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332
JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,073,212...182,076,147
Ensembl chr 2:182,073,215...182,082,399
JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,661,955...183,722,584
Ensembl chr 2:183,662,163...183,718,674
JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,832,241...173,838,443
Ensembl chr 2:173,833,880...173,838,456
JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,856,339...174,868,922
Ensembl chr 2:174,856,397...174,868,919
JBrowse link
G Pglyrp3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,479,693...177,490,867
Ensembl chr 2:177,477,407...177,490,736
JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,202,654...176,322,859
Ensembl chr 2:176,218,519...176,242,251
JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488
JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,544,487...183,552,928
Ensembl chr 2:183,544,499...183,552,785
JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825
JBrowse link
G Prm1 protamine 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,871,909...4,872,155 JBrowse link
G Prm2 protamine 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,876,398...4,876,834
Ensembl chr10:4,873,372...4,877,026
JBrowse link
G Prm3 protamine 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,877,471...4,877,985
Ensembl chr10:4,877,471...4,877,985
JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489
JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,599,483...177,600,849
Ensembl chr 2:177,599,483...177,600,849
JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,598,934...182,608,250
Ensembl chr 2:182,598,934...182,608,194
JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,849,670...174,854,758
Ensembl chr 2:174,849,936...174,854,758
JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036
JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422
JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency
ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency
OMIM
ClinVar
PMID:7744245 PMID:9401005 PMID:9536098 PMID:10079298 PMID:12368908 More... NCBI chr 2:182,521,131...182,528,720
Ensembl chr 2:182,521,202...182,528,717
JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: MHC class II deficiency OMIM
ClinVar
PMID:7951244 PMID:9536098 PMID:9806546 PMID:10803838 PMID:11313409 More... NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255
JBrowse link
G Rfxap regulatory factor X-associated protein ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome, Type II, Complementation Group D | ClinVar Annotator: match by term: MHC class II deficiency OMIM
ClinVar
PMID:650344 PMID:7021490 PMID:9118943 PMID:9287230 PMID:9536098 More... NCBI chr 2:139,008,052...139,012,235
Ensembl chr 2:139,008,055...139,012,259
JBrowse link
G RGD1309748 similar to CG4768-PA ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992
JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,704,852...173,717,380
Ensembl chr 2:173,704,562...173,717,321
JBrowse link
G Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,099,924...182,110,544
Ensembl chr 2:182,101,795...182,110,319
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
G Rmi2 RecQ mediated genome instability 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,829,333...4,837,264
Ensembl chr10:4,830,553...4,837,235
JBrowse link
G Rorc RAR-related orphan receptor C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,311,132...183,367,959
Ensembl chr 2:183,293,114...183,367,407
JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:179,061,768...179,066,056
Ensembl chr 2:179,060,017...179,065,910
JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,487,921...174,497,266
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,123,510...174,124,664 JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544
JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:179,191,504...179,197,098
Ensembl chr 2:179,191,715...179,197,044
JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,999,439...176,005,933 JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,008,395...176,010,423
Ensembl chr 2:176,008,395...176,010,423
JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,016,405...176,022,117
Ensembl chr 2:176,016,268...176,022,117
JBrowse link
G S100a2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,075,060...176,078,782 JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,034,283...176,089,702
Ensembl chr 2:176,049,520...176,089,702
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,095,332...176,099,546
Ensembl chr 2:176,097,539...176,099,546
JBrowse link
G S100a6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
JBrowse link
G S100a7a S100 calcium binding protein A7A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441
JBrowse link
G S100a8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,583,124...174,588,984
Ensembl chr 2:174,570,653...174,588,985
JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,733,635...182,750,066
Ensembl chr 2:182,737,474...182,746,856
JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
JBrowse link
G Sf3b4 splicing factor 3B subunit 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669
JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020
JBrowse link
G Slc27a3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,853,241...175,857,909
Ensembl chr 2:175,853,241...175,857,909
JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058
JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,677,985...174,680,366
Ensembl chr 2:174,677,708...174,680,366
JBrowse link
G Smcp sperm mitochondria-associated cysteine-rich protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,160,948...178,165,951
Ensembl chr 2:178,160,127...178,166,001
JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,804,987...173,832,102
Ensembl chr 2:173,805,019...173,832,102
JBrowse link
G Snapin SNAP-associated protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,971,575...175,974,164
Ensembl chr 2:175,971,257...175,974,231
JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
G Sprr1a small proline-rich protein 1A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063
JBrowse link
G Sprr1b small proline-rich protein 1B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,009,130...178,009,567
Ensembl chr 2:178,009,130...178,009,567
JBrowse link
G Sprr2b small proline rich protein 2B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096
JBrowse link
G Sprr2d small proline-rich protein 2D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,870,082...177,870,679
Ensembl chr 2:177,870,434...177,870,679
JBrowse link
G Sprr2f small proline rich protein 2F ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:177,989,974...177,990,204
Ensembl chr 2:177,989,974...177,990,204
JBrowse link
G Sprr2g small proline rich protein 2G ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532
G Sprr3 small proline-rich protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:178,027,743...178,028,501
Ensembl chr 2:178,027,425...178,029,891
JBrowse link
G Sprr4 small proline-rich protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042
JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964
JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184
JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:179,105,246...179,112,014
Ensembl chr 2:179,109,609...179,110,985
Ensembl chr 2:179,109,609...179,110,985
JBrowse link
G Tchhl1 trichohyalin-like 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:179,134,941...179,138,467
Ensembl chr 2:179,135,796...179,138,202
JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755
JBrowse link
G Tekt5 tektin 5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:5,279,893...5,316,565
Ensembl chr10:5,279,893...5,316,619
JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594
JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:181,953,550...181,974,708
Ensembl chr 2:181,953,550...181,974,708
JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:181,980,783...181,986,002
Ensembl chr 2:181,980,783...181,986,002
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,695,709...182,700,540
Ensembl chr 2:182,695,709...182,700,540
JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,710,433...182,726,724
Ensembl chr 2:182,709,378...182,726,760
JBrowse link
G Tnp2 transition protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:4,879,812...4,880,540
Ensembl chr10:4,879,812...4,880,538
JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013
JBrowse link
G Trim46 tripartite motif-containing 46 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,641,494...174,654,237
Ensembl chr 2:174,641,496...174,654,141
JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,755,841...173,765,564
Ensembl chr 2:173,753,786...173,765,404
JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:173,525,204...173,533,182
Ensembl chr 2:173,524,600...173,533,107
JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192
JBrowse link
G Tvp23a trans-golgi network vesicle protein 23 homolog A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:5,227,220...5,261,125
Ensembl chr10:5,227,220...5,263,180
JBrowse link
G Ubap2l ubiquitin associated protein 2-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998
JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942
JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059
JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr10:6,880,684...6,925,033
Ensembl chr10:6,828,795...6,925,355
JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182
JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236
JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647
JBrowse link
Omenn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO OMIM NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia OMIM
ClinVar
PMID:9630231 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Rag2 recombination activating 2 ISO OMIM
RGD
PMID:9630231 RGD:1599403 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link
recombinase activating gene 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency ClinVar PMID:25741868 PMID:28492532 PMID:29772310 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link
reticular dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak2 adenylate kinase 2 ISO ClinVar Annotator: match by term: Reticular dysgenesis
DNA:missense,nonsense mutations:cds:
OMIM
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:19414857 More... RGD:11100026 NCBI chr 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632
JBrowse link
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aamp angio-associated, migratory cell protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,688,223...76,695,141
Ensembl chr 9:76,688,194...76,696,469
JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
JBrowse link
G Asic4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,677,403...76,688,035
Ensembl chr 9:76,677,404...76,687,986
JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607
JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,768,124...75,771,122
Ensembl chr 9:75,766,770...75,771,084
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: NHEJ1 SYNDROME | ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency OMIM
ClinVar
PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 More... NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar PMID:28492532 NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
JBrowse link
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, athabascan-type | ClinVar Annotator: match by term: Severe combined immunodeficiency, partial OMIM
ClinVar
PMID:9536098 PMID:11336668 PMID:12055248 PMID:12569164 PMID:12592555 More... NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:12471202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:19912631 PMID:28492532 NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433
JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332
JBrowse link
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar PMID:1346349 PMID:2651461 PMID:2773932 PMID:3182793 PMID:3475710 More... NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Dclre1c DNA cross-link repair 1C ISO Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation OMIA PMID:17998435 PMID:22903400 PMID:23514746 PMID:25454085 PMID:26320255 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
JBrowse link
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547
JBrowse link
G Insl3 insulin-like 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:7481768 PMID:7659163 PMID:9354668 PMID:9536098 PMID:9753072 More... NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISS OMIM:601457 MouseDO NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
OMIM
ClinVar
PMID:290284 PMID:8810255 PMID:9630231 PMID:10891452 PMID:11121059 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative OMIM
ClinVar
PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11313270 More... NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link
G Rpl18a ribosomal protein L18A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr16:18,542,572...18,544,578
Ensembl chr16:18,542,566...18,545,546
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
JBrowse link
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insl3 insulin-like 3 ISO ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type ClinVar PMID:28492532 NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
JBrowse link
G Jak3 Janus kinase 3 ISO DNA:point mutation, deletion:CDS:394A>G, pY100C (human)
ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type
ClinVar
OMIM
RGD
PMID:7481768 PMID:7659163 PMID:9354668 PMID:9536098 PMID:9753072 More... RGD:1600254 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Rpl18a ribosomal protein L18A ISO ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type ClinVar PMID:28492532 NCBI chr16:18,542,572...18,544,578
Ensembl chr16:18,542,566...18,545,546
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type ClinVar PMID:28492532 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
JBrowse link
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar PMID:28492532 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Coro1a coronin 1A ISS OMIM:608971 MouseDO NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:9843216 PMID:11023514 PMID:15661025 PMID:16199547 More... NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
JBrowse link
G Jak3 Janus kinase 3 ISS OMIM:608971 MouseDO NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7621884 PMID:9536098 PMID:10700239 PMID:11101853 PMID:11145714 More... NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar PMID:21131235 PMID:25741868 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency ClinVar PMID:25741868 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy OMIM
ClinVar
PMID:8911612 PMID:9536098 PMID:10206641 PMID:15180707 PMID:15897400 More... NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
JBrowse link
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stk4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: MST1 DEFICIENCY | ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22174160 PMID:22294732 PMID:25741868 More... NCBI chr 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744
JBrowse link
X-linked severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2rg interleukin 2 receptor subunit gamma ISO
IMP
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency OMIM
ClinVar
RGD
PMID:2984567 PMID:7557965 PMID:7632950 PMID:7668284 PMID:7860773 More... RGD:2316325 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823
JBrowse link
G Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo IMP RGD PMID:20111598 RGD:2316325
G Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo IMP RGD PMID:20111598 RGD:2316325

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        combined immunodeficiency 771
          severe combined immunodeficiency 451
            CD3delta deficiency 0
            CD3epsilon deficiency 33
            CD3gamma deficiency 0
            CD3zeta deficiency 0
            CD45 deficiency 0
            HLA Class 1 Deficiency 0
            Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
            MHC class I deficiency 4
            MHC class II deficiency 229
            Omenn syndrome 3
            Reticuloendotheliosis, X-Linked 0
            Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 52
            Severe Combined Immunodeficiency, Atypical 0
            Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 4
            Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 1
            T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 1
            T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
            X-linked severe combined immunodeficiency 5
            adenosine deaminase deficiency 5
            coronin-1A deficiency 51
            immunodeficiency 10 1
            immunodeficiency 11A 7
            immunodeficiency 15B 17
            immunodeficiency 19 33
            immunodeficiency 22 1
            immunodeficiency 24 3
            immunodeficiency 26 5
            immunodeficiency 48 1
            immunodeficiency 9 1
            interleukin-7 receptor alpha deficiency 0
            janus kinase-3 deficiency 1
            recombinase activating gene 1 deficiency 0
            recombinase activating gene 2 deficiency 1
            reticular dysgenesis 1
            severe combined immunodeficiency with sensitivity to ionizing radiation 4
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 10
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive + 7
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Immune & Inflammatory Diseases 5178
        immune system disease 4487
          primary immunodeficiency disease 3831
            combined immunodeficiency 771
              severe combined immunodeficiency 451
                CD3delta deficiency 0
                CD3epsilon deficiency 33
                CD3gamma deficiency 0
                CD3zeta deficiency 0
                CD45 deficiency 0
                HLA Class 1 Deficiency 0
                Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
                MHC class I deficiency 4
                MHC class II deficiency 229
                Omenn syndrome 3
                Reticuloendotheliosis, X-Linked 0
                Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 52
                Severe Combined Immunodeficiency, Atypical 0
                Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 4
                Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 1
                T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 1
                T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
                X-linked severe combined immunodeficiency 5
                adenosine deaminase deficiency 5
                coronin-1A deficiency 51
                immunodeficiency 10 1
                immunodeficiency 11A 7
                immunodeficiency 15B 17
                immunodeficiency 19 33
                immunodeficiency 22 1
                immunodeficiency 24 3
                immunodeficiency 26 5
                immunodeficiency 48 1
                immunodeficiency 9 1
                interleukin-7 receptor alpha deficiency 0
                janus kinase-3 deficiency 1
                recombinase activating gene 1 deficiency 0
                recombinase activating gene 2 deficiency 1
                reticular dysgenesis 1
                severe combined immunodeficiency with sensitivity to ionizing radiation 4
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 10
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive + 7
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