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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:immunodeficiency 42
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Accession:DOID:0111940 term browser browse the term
Definition:A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. (DO)
Synonyms:exact_synonym: IMD42;   autosomal recessive MSMD due to complete RORgamma receptor defiency;   autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency;   autosomal recessive primary immunodeficiency due to RORC mutation
 primary_id: MIM:616622
 xref: ORDO:477857

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immunodeficiency 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,441,298...2,451,061
Ensembl chrNW_004624885:2,441,217...2,451,057 		JBrowse link
G Adamtsl4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,264,521...18,275,497
Ensembl chrNW_004624772:18,267,719...18,275,597 		JBrowse link
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693 		JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:17,965,947...17,981,870 JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,827,061...18,848,683
Ensembl chrNW_004624772:18,827,061...18,842,457 		JBrowse link
G Aph1a aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,018,852...18,022,431
Ensembl chrNW_004624772:18,018,896...18,022,508 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,014,853...3,032,920
Ensembl chrNW_004624885:3,014,351...3,022,248 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,314,885...1,362,730
Ensembl chrNW_004624885:1,311,512...1,362,730 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,949,221...19,016,672
Ensembl chrNW_004624772:18,949,108...19,015,504 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:961,880...1,136,990
Ensembl chrNW_004624885:961,880...1,136,731 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,995,379...3,014,207
Ensembl chrNW_004624885:2,994,020...3,012,995 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,816,591...1,829,971
Ensembl chrNW_004624885:1,820,105...1,832,510 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,780,646...18,790,781
Ensembl chrNW_004624772:18,780,652...18,790,128 		JBrowse link
G C2cd4d C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,506,927...19,508,062
Ensembl chrNW_004624772:19,507,028...19,508,062 		JBrowse link
G Ca14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,011,094...18,018,585
Ensembl chrNW_004624772:18,012,280...18,022,508 		JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,575,560...1,592,540
Ensembl chrNW_004624885:1,575,562...1,592,594 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,768,765...18,774,859
Ensembl chrNW_004624772:18,768,827...18,774,859 		JBrowse link
G Celf3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,389,147...19,403,100
Ensembl chrNW_004624772:19,387,827...19,403,094 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,851,681...18,855,267
Ensembl chrNW_004624772:18,851,612...18,855,255 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,222,475...19,249,418 JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,839,607...2,851,934
Ensembl chrNW_004624885:2,843,899...2,848,522 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,501,468...3,511,481
Ensembl chrNW_004624885:3,501,470...3,511,451 		JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,036,407...18,040,571
Ensembl chrNW_004624772:18,037,066...18,040,692 		JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,507,462...2,510,842
Ensembl chrNW_004624885:2,507,462...2,510,818 		JBrowse link
G Clk2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,285,116...2,295,959
Ensembl chrNW_004624885:2,284,953...2,296,735 		JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,862,911...1,867,656
Ensembl chrNW_004624885:1,862,822...1,867,726 		JBrowse link
G Creb3l4 cAMP responsive element binding protein 3 like 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,249,747...3,255,210
Ensembl chrNW_004624885:3,250,116...3,254,634 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,265,079...3,276,594
Ensembl chrNW_004624885:3,264,983...3,277,459 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,013,189...19,026,756
Ensembl chrNW_004624772:19,015,835...19,025,588 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,421,905...18,446,857
Ensembl chrNW_004624772:18,419,736...18,438,786 		JBrowse link
G CUNH1orf54 chromosome unknown C1orf54 homolog ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,024,288...18,034,457
Ensembl chrNW_004624772:18,024,149...18,034,506 		JBrowse link
G CUNH1orf56 chromosome unknown C1orf56 homolog ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:166,801...169,260 JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,135,770...1,170,447
Ensembl chrNW_004624885:1,137,191...1,170,139 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,451,247...2,465,459
Ensembl chrNW_004624885:2,451,404...2,465,397 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,465,530...2,474,418
Ensembl chrNW_004624885:2,465,636...2,471,722 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,277,793...3,291,701
Ensembl chrNW_004624885:3,278,578...3,290,980 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,377,850...2,378,390
Ensembl chrNW_004624885:2,377,880...2,378,390 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,234,537...18,239,896
Ensembl chrNW_004624772:18,233,727...18,240,601 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,382,712...2,388,805
Ensembl chrNW_004624885:2,383,045...2,389,107 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,420,610...2,428,048
Ensembl chrNW_004624885:2,421,467...2,428,011 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,436,629...2,440,196
Ensembl chrNW_004624885:2,436,535...2,440,200 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,327,206...18,335,422
Ensembl chrNW_004624772:18,327,865...18,335,870 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,301,637...2,307,839
Ensembl chrNW_004624885:2,302,530...2,307,299 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:942,998...949,529
Ensembl chrNW_004624885:943,571...949,528 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,496,448...2,503,277
Ensembl chrNW_004624885:2,496,448...2,503,180 		JBrowse link
G Gabpb2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,726,903...18,760,307 JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,297,191...3,375,908
Ensembl chrNW_004624885:3,362,823...3,375,179 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,315,371...2,321,327
Ensembl chrNW_004624885:2,315,142...2,321,327 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,568,096...1,571,001
Ensembl chrNW_004624885:1,568,551...1,570,924 		JBrowse link
G Golph3l golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,342,613...18,378,037
Ensembl chrNW_004624772:18,342,520...18,377,653 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,179,033...1,246,592 JBrowse link
G Gpatch4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,783,892...1,793,074 JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,799,303...1,805,977
Ensembl chrNW_004624885:1,798,904...1,805,318 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,039,711...3,042,702
Ensembl chrNW_004624885:3,039,256...3,042,362 		JBrowse link
G Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,271,991...2,281,575
Ensembl chrNW_004624885:2,272,935...2,281,588 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,900,835...1,910,886 JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,379,154...18,403,456
Ensembl chrNW_004624772:18,379,745...18,403,745 		JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,483,385...3,490,157
Ensembl chrNW_004624885:3,483,462...3,493,805 		JBrowse link
G Insrr insulin receptor related receptor ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,971,442...1,987,595
Ensembl chrNW_004624885:1,971,345...1,987,231 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,403,614...3,442,170
Ensembl chrNW_004624885:3,401,899...3,442,227 		JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,730,079...1,765,250
Ensembl chrNW_004624885:1,730,771...1,765,180 		JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,878,939...1,885,743
Ensembl chrNW_004624885:1,874,331...1,885,001 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:375,035...375,967 JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,247,502...3,249,658
Ensembl chrNW_004624885:3,247,516...3,249,840 		JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,597,605...2,731,598
Ensembl chrNW_004624885:2,597,466...2,726,363 		JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,285,461...1,306,207
Ensembl chrNW_004624885:1,285,465...1,306,193 		JBrowse link
G Kplce KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:210,725...211,797
Ensembl chrNW_004624885:210,725...211,618 		JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,354,759...2,358,135
Ensembl chrNW_004624885:2,354,684...2,358,135 		JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,399,235...1,403,669
Ensembl chrNW_004624885:1,398,505...1,403,789 		JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:333,046...333,357 JBrowse link
G Lelp1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:626,779...629,690 JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,495,400...2,496,273
Ensembl chrNW_004624885:2,492,525...2,503,465 		JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,470,853...19,474,959
Ensembl chrNW_004624772:19,472,576...19,476,708 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554 		JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:675,955...677,391 JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,684,380...18,714,120
Ensembl chrNW_004624772:18,684,359...18,695,035 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,287,587...18,292,384
Ensembl chrNW_004624772:18,289,509...18,319,033 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,685,423...1,714,462
Ensembl chrNW_004624885:1,687,572...1,714,238 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,885,437...1,893,406
Ensembl chrNW_004624885:1,885,144...1,894,464 		JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,412,031...1,422,297
Ensembl chrNW_004624885:1,416,288...1,421,277 		JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,815,570...18,826,501
Ensembl chrNW_004624772:18,817,564...18,826,501 		JBrowse link
G Mir9-1hg MIR9-1 host gene ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,640,869...1,665,272 JBrowse link
G Mllt11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,762,099...18,768,629 JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,893,771...1,899,244
Ensembl chrNW_004624885:1,893,771...1,899,617 		JBrowse link
G Mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,435,032...19,438,802
Ensembl chrNW_004624772:19,434,901...19,438,757 		JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,045,865...18,060,284
Ensembl chrNW_004624772:18,045,976...18,060,287 		JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,175,433...1,179,526
Ensembl chrNW_004624885:1,175,492...1,179,456 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:17,707,338...17,715,482
Ensembl chrNW_004624772:17,707,340...17,714,905 		JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,321,324...2,327,518 JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,339,281...2,343,351 JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,780,894...1,783,288
Ensembl chrNW_004624885:1,780,882...1,783,242 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,837,614...1,845,029
Ensembl chrNW_004624885:1,837,926...1,844,895 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,462,334...3,475,735
Ensembl chrNW_004624885:3,460,438...3,475,720 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577 		JBrowse link
G Nup210l nucleoporin 210 like ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,140,355...3,234,360 JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,438,742...19,445,293
Ensembl chrNW_004624772:19,442,015...19,445,182 		JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:17,717,178...17,776,940
Ensembl chrNW_004624772:17,721,218...17,787,299 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,528,549...1,532,010
Ensembl chrNW_004624885:1,528,655...1,532,000 		JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,526,072...2,535,618
Ensembl chrNW_004624885:2,528,222...2,535,795 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,533,603...18,564,160
Ensembl chrNW_004624772:18,532,986...18,564,492 		JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,616,095...18,658,016
Ensembl chrNW_004624772:18,616,121...18,658,286 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,261,850...2,272,175
Ensembl chrNW_004624885:2,264,928...2,272,171 		JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:17,889,528...17,898,739
Ensembl chrNW_004624772:17,889,560...17,901,213 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,544,136...2,552,591
Ensembl chrNW_004624885:2,543,862...2,553,237 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,127,702...19,184,151
Ensembl chrNW_004624772:19,127,702...19,184,048 		JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,925,712...1,948,275
Ensembl chrNW_004624885:1,925,029...1,949,099 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,074,535...18,097,191
Ensembl chrNW_004624772:18,070,970...18,100,423 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:626,780...641,008 JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,791,590...18,820,818
Ensembl chrNW_004624772:18,791,590...18,816,679 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,124,327...19,126,731
Ensembl chrNW_004624772:19,124,386...19,126,627 		JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,600,021...18,609,887
Ensembl chrNW_004624772:18,600,021...18,610,014 		JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,521,230...2,525,449
Ensembl chrNW_004624885:2,521,368...2,525,449 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,239,581...3,243,539
Ensembl chrNW_004624885:3,239,595...3,243,539 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,404,922...1,411,427
Ensembl chrNW_004624885:1,404,845...1,411,627 		JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,517,829...18,523,220
Ensembl chrNW_004624772:18,517,305...18,523,220 		JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,616,331...1,628,349
Ensembl chrNW_004624885:1,616,060...1,628,933 		JBrowse link
G Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,407,336...19,416,320
Ensembl chrNW_004624772:19,406,992...19,411,621 		JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,275,765...1,284,613 JBrowse link
G Rorc RAR related orphan receptor C ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | ClinVar Annotator: match by term: Immunodeficiency 42 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26160376 PMID:28492532 NCBI chrNW_004624772:19,478,403...19,501,184
Ensembl chrNW_004624772:19,477,093...19,501,169 		JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,107,235...18,215,996
Ensembl chrNW_004624772:18,107,317...18,212,239 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,234,338...3,235,747
Ensembl chrNW_004624885:3,234,339...3,235,747 		JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:949,542...957,142 JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,309,418...1,312,004 JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,512,288...3,516,845
Ensembl chrNW_004624885:3,512,288...3,516,850 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,597,909...19,608,352
Ensembl chrNW_004624772:19,597,942...19,608,271 		JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,563,871...19,568,413
Ensembl chrNW_004624772:19,563,889...19,568,766 		JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,512,424...3,527,462
Ensembl chrNW_004624885:3,514,979...3,527,458 		JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,529,813...3,531,314
Ensembl chrNW_004624885:3,529,026...3,532,182 		JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,532,876...3,538,530
Ensembl chrNW_004624885:3,532,292...3,538,640 		JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,572,419...3,588,121
Ensembl chrNW_004624885:3,585,111...3,589,138 		JBrowse link
G S100a4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,589,323...3,591,463
Ensembl chrNW_004624885:3,586,909...3,592,914 		JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,591,615...3,596,224
Ensembl chrNW_004624885:3,593,083...3,596,633 		JBrowse link
G S100a7 S100 calcium binding protein A7 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:790,961...794,189 JBrowse link
G S100a8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:784,528...785,623 JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:767,455...770,023
Ensembl chrNW_004624885:762,934...770,129 		JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,296,409...2,301,456
Ensembl chrNW_004624885:2,296,429...2,301,452 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,496,479...18,505,706
Ensembl chrNW_004624772:18,496,495...18,505,706 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,470,666...1,493,634
Ensembl chrNW_004624885:1,470,525...1,495,369 		JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,707,723...18,720,661
Ensembl chrNW_004624772:18,707,744...18,720,731 		JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,855,405...18,894,285
Ensembl chrNW_004624772:18,855,332...18,894,226 		JBrowse link
G Sf3b4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:17,701,930...17,706,613
Ensembl chrNW_004624772:17,701,341...17,706,550 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,951,442...1,960,292
Ensembl chrNW_004624885:1,952,387...1,960,424 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,511,039...2,520,883
Ensembl chrNW_004624885:2,511,240...2,521,155 		JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,886,584...2,904,953 JBrowse link
G Slc25a44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,500,837...1,517,481
Ensembl chrNW_004624885:1,500,255...1,517,481 		JBrowse link
G Slc27a3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,398,652...3,403,376
Ensembl chrNW_004624885:3,395,839...3,402,542 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,260,673...3,264,636
Ensembl chrNW_004624885:3,260,681...3,264,959 		JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,379,489...2,381,921
Ensembl chrNW_004624885:2,379,489...2,381,918 		JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,532,101...1,565,811
Ensembl chrNW_004624885:1,532,101...1,560,307 		JBrowse link
G Snapin SNAP associated protein ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,490,321...3,491,963
Ensembl chrNW_004624885:3,490,321...3,491,946 		JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,305,355...19,385,298
Ensembl chrNW_004624772:19,305,359...19,385,292 		JBrowse link
G Sprr1b small proline rich protein 1B ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:523,256...525,503 JBrowse link
G Sprr3 small proline rich protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:495,035...510,429 JBrowse link
G Sprr4 small proline rich protein 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:455,934...469,835 JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,365,651...1,372,778
Ensembl chrNW_004624885:1,364,563...1,372,466 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,246,768...1,266,418
Ensembl chrNW_004624885:1,246,719...1,266,420 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,221,704...18,234,080
Ensembl chrNW_004624772:18,221,459...18,240,601 		JBrowse link
G Tchhl1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,718,920...19,725,594 JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,447,092...19,463,796
Ensembl chrNW_004624772:19,444,049...19,463,788 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,327,427...2,337,460
Ensembl chrNW_004624885:2,327,459...2,340,338 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,673,079...19,704,635
Ensembl chrNW_004624772:19,673,066...19,698,710 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,523,721...19,530,019
Ensembl chrNW_004624772:19,523,526...19,530,041 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,562,031...1,567,882
Ensembl chrNW_004624885:1,562,092...1,567,303 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,674,638...18,680,319
Ensembl chrNW_004624772:18,674,861...18,680,317 		JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,695,670...18,698,304
Ensembl chrNW_004624772:18,695,083...18,697,688 		JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,109,360...3,139,664
Ensembl chrNW_004624885:3,109,436...3,139,789 		JBrowse link
G Trim46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,344,250...2,354,390
Ensembl chrNW_004624885:2,343,991...2,354,288 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,768,702...1,777,349 JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:19,250,576...19,287,540
Ensembl chrNW_004624772:19,250,491...19,287,145 		JBrowse link
G Ubap2l ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:3,043,328...3,089,657
Ensembl chrNW_004624885:3,043,328...3,089,664 		JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,857,819...2,865,891
Ensembl chrNW_004624885:2,857,442...2,867,056 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:1,382,302...1,398,474
Ensembl chrNW_004624885:1,383,897...1,398,484 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:17,817,958...17,885,107
Ensembl chrNW_004624772:17,818,039...17,889,228 		JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,662,515...18,674,214
Ensembl chrNW_004624772:18,662,110...18,674,193 		JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624885:2,474,427...2,489,024
Ensembl chrNW_004624885:2,475,727...2,489,030 		JBrowse link
G Znf687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004624772:18,564,311...18,589,584
Ensembl chrNW_004624772:18,564,311...18,572,479 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    syndrome 9641
      primary immunodeficiency disease 3600
        immunodeficiency 42 178
Path 2
Term Annotations click to browse term
  disease 14208
    Developmental Disease 12477
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11716
        genetic disease 11437
          monogenic disease 9796
            autosomal genetic disease 9397
              autosomal recessive disease 6450
                immunodeficiency 42 178
paths to the root