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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:lymphatic system disease
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Accession:DOID:75 term browser browse the term
Definition:An immune system disease that is located_in the lymphatic system. (DO)
Synonyms:exact_synonym: disease of lympoid system;   disorder of lymph node and lymphatics;   disorder of lymphatic system;   disorder of lymphoid system;   lymphangiopathy;   lymphatic disease;   lymphatic diseases;   lymphatic disorder;   lymphatism;   lympoid system disease;   status lymphaticus
 primary_id: MESH:D008206
 xref: EFO:0007352
For additional species annotation, visit the Alliance of Genome Resources.

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lymphatic system disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgmn legumain ISO MouseDO NCBI chrNW_004624734:9,207,496...9,240,026
Ensembl chrNW_004624734:9,204,790...9,240,309 		JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741 		JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chrNW_004624734:40,453,445...40,457,551
Ensembl chrNW_004624734:40,453,420...40,459,671 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
Aagenaes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624768:17,300,913...17,315,848
Ensembl chrNW_004624768:17,301,277...17,314,353 		JBrowse link
acute biphenotypic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dot1l DOT1 like histone lysine methyltransferase treatment ISO RGD PMID:23801631 RGD:9588291 NCBI chrNW_004624828:6,648,403...6,697,617
Ensembl chrNW_004624828:6,650,762...6,697,879 		JBrowse link
G Rnf20 ring finger protein 20 disease_progression ISO RGD PMID:23412334 RGD:9831405 NCBI chrNW_004624758:9,759,535...9,783,235
Ensembl chrNW_004624758:9,758,101...9,783,411 		JBrowse link
acute leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified ClinVar PMID:7585650 PMID:8571952 PMID:9195225 PMID:9238033 PMID:15982307 More... NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 treatment ISO DNA:SNP:5'UTR:rs717620(human)
DNA:SNPs: :rs717620(human)		 RGD PMID:24404132 PMID:25007187 RGD:11080959 RGD:11080979 NCBI chrNW_004624737:11,593,701...11,686,790
Ensembl chrNW_004624737:11,593,864...11,688,460 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984797 PMID:21898527 NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491 		JBrowse link
G Aicda activation induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603 PMID:19684604 NCBI chrNW_004624791:1,610,169...1,785,512
Ensembl chrNW_004624791:1,610,169...1,785,477 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chrNW_004624772:18,949,221...19,016,672
Ensembl chrNW_004624772:18,949,108...19,015,504 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO OMIM NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506 		JBrowse link
G Bcl2 BCL2 apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Bcl2l1 BCL2 like 1 treatment ISO mRNA:increased expression:blood, mononuclear cell (human) RGD PMID:12469194 PMID:19020783 RGD:11353852 RGD:11353866 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO OMIM NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131 		JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087 		JBrowse link
G Cast calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chrNW_004624743:15,265,930...15,405,904
Ensembl chrNW_004624743:15,346,837...15,403,150 		JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chrNW_004624807:4,040,639...4,074,631 JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712 		JBrowse link
G Cdk6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chrNW_004624809:349,453...588,986
Ensembl chrNW_004624809:349,404...579,599 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440 		JBrowse link
G Cebpe CCAAT enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chrNW_004624820:9,423,725...9,425,338
Ensembl chrNW_004624820:9,423,725...9,425,338 		JBrowse link
G Cfb complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		JBrowse link
G Crebbp CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Crlf2 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chrNW_004624834:596,067...610,333 JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chrNW_004624894:564,252...595,048
Ensembl chrNW_004624894:561,683...594,878 		JBrowse link
G Dhfr dihydrofolate reductase disease_progression ISO DNA:polymorphisms, haplotype:promoter:
DNA:polymorphisms: :-317A>G, 829C>T (human)		 RGD PMID:9226157 PMID:12972803 PMID:19861437 PMID:22969948 RGD:11039542 RGD:11039543 RGD:11039544 RGD:11039545 NCBI chrNW_004624743:1,446,643...1,462,319
Ensembl chrNW_004624743:1,446,643...1,461,863 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Dntt DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chrNW_004624737:7,714,577...7,755,798
Ensembl chrNW_004624737:7,714,577...7,755,605 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chrNW_004624760:271,397...463,462
Ensembl chrNW_004624760:272,493...379,780 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chrNW_004624754:24,354,271...24,368,319
Ensembl chrNW_004624754:24,354,284...24,368,638 		JBrowse link
G Eng endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility
no_association		 ISO DNA:missense mutation, haplotype:exon:p.Y113H (human)
DNA:missense mutation, haplotype:exon:p.H139R (human)
DNA:polymorphisms:exon
DNA:SNPs:exon:rs1051740, rs2234922 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19593802 PMID:21983886 PMID:22200898 PMID:22930568 RGD:11252110 RGD:11252111 RGD:11252113 RGD:11252114 NCBI chrNW_004624835:6,161,930...6,181,016
Ensembl chrNW_004624835:6,162,111...6,168,714 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)
DNA:SNPs: :8092C>A, 19007G>A (human)		 RGD PMID:16435384 PMID:16723154 RGD:11252160 RGD:11340204 NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit no_association ISO DNA:missense mutations: :p.D312N, p.K751Q (human)
DNA:haplotype		 RGD PMID:19101034 PMID:21987080 RGD:11252192 RGD:11340201 NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
G Erg ETS transcription factor ERG ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chrNW_004624745:25,239,356...25,457,533
Ensembl chrNW_004624745:25,294,832...25,459,683 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:26102509 NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chrNW_004624742:3,112,827...3,123,424
Ensembl chrNW_004624742:3,112,801...3,124,301 		JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO protein:increased expression:CD34+ bone marrow cell RGD PMID:9711907 PMID:10500800 RGD:11049148 RGD:11049157 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chrNW_004624858:5,848,817...5,856,448 JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia OMIM
ClinVar		 PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 More... NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066 		JBrowse link
G Fpgs folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chrNW_004624760:7,735,606...7,754,750
Ensembl chrNW_004624760:7,735,613...7,754,994 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35115686 NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chrNW_004624760:3,446,028...3,454,818
Ensembl chrNW_004624760:3,446,028...3,454,818 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia OMIM
ClinVar		 PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:32134617 More... NCBI chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chrNW_004624794:8,826,281...8,851,614
Ensembl chrNW_004624794:8,823,449...8,851,625 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918 PMID:24698347 RGD:11352774 RGD:11352812 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535 		JBrowse link
G Hck HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chrNW_004624741:456,186...494,207
Ensembl chrNW_004624741:455,696...493,821 		JBrowse link
G Hdac1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chrNW_004624764:15,510,655...15,552,020
Ensembl chrNW_004624764:15,510,866...15,552,025 		JBrowse link
G Hdac2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chrNW_004624856:4,834,197...4,861,546
Ensembl chrNW_004624856:4,834,217...4,861,592 		JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chrNW_004624847:3,846,196...4,101,537
Ensembl chrNW_004624847:3,845,858...4,101,487 		JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutation: :p.H63D (human)
DNA:missense mutation:cds:p.H63D (human)
DNA:missense mutation:cds:p.C282Y (human)		 RGD PMID:10627122 PMID:17107905 RGD:10755557 RGD:10755558 NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376 		JBrowse link
G Hk1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chrNW_004624754:3,594,478...3,656,231
Ensembl chrNW_004624754:3,591,090...3,659,760 		JBrowse link
G Hlf HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chrNW_004624795:10,520,106...10,573,206
Ensembl chrNW_004624795:10,520,044...10,573,328 		JBrowse link
G Hoxd4 homeobox D4 ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to ClinVar PMID:15776434 NCBI chrNW_004624787:13,290,250...13,296,315
Ensembl chrNW_004624787:13,290,703...13,296,311 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chrNW_004624765:7,806,560...7,825,520 JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 ClinVar PMID:25741868 PMID:27993330 PMID:28492532 NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004624765:3,016,569...3,171,443
Ensembl chrNW_004624765:3,017,571...3,164,136 		JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004624795:3,222,170...3,347,079
Ensembl chrNW_004624795:3,290,078...3,345,533 		JBrowse link
G Il10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:15860861 PMID:21653647 RGD:11049158 RGD:11049169 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Itpa inosine triphosphatase no_association
treatment		 ISO DNA:SNP:intron
DNA:SNPs:exon:94C>A, 138G>A (human)		 RGD PMID:22009189 RGD:10766474 NCBI chrNW_004624741:4,312,363...4,341,996
Ensembl chrNW_004624741:4,312,360...4,325,825 		JBrowse link
G Kdm2b lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chrNW_004624747:21,922,249...22,047,246 JBrowse link
G Kdm3b lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chrNW_004624743:31,148,051...31,224,896
Ensembl chrNW_004624743:31,148,098...31,225,992 		JBrowse link
G Kdm6a lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chrNW_004624887:1,065,173...1,279,660
Ensembl chrNW_004624887:1,065,883...1,279,186 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545		 CTD
MouseDO		 PMID:24736461 PMID:25730765 NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077 		JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045 PMID:25917266 RGD:11060148 RGD:11060149 NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Lmo2 LIM domain only 2 ISO OMIM:247640 | OMIM:613065 MouseDO NCBI chrNW_004624767:13,245,783...13,257,322
Ensembl chrNW_004624767:13,245,984...13,257,440 		JBrowse link
G LOC101701066 cytochrome P450 1B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chrNW_004624738:19,639,215...19,647,807
Ensembl chrNW_004624738:19,638,456...19,647,497 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms, haplotypes:cds:multiple
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)		 RGD PMID:9744491 PMID:22434102 RGD:11041749 RGD:11041762 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G LOC101707509 cytochrome P450 1A1 susceptibility
no_association		 ISO DNA:polymorphism:cds:2452C>A(p.T461N)(human)
DNA:polymorphism:3"UTR:rs4646903(human)
DNA:polymorphism:3'UTR:3801T>C(human)		 RGD PMID:16676594 PMID:22964275 PMID:23725389 RGD:11352714 RGD:11352725 RGD:11352728 NCBI chrNW_004627988:7...1,323 JBrowse link
G LOC101717043 cytochrome b-245 light chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chrNW_004624746:911,852...919,361
Ensembl chrNW_004624746:911,842...919,362 		JBrowse link
G LOC101722366 cytochrome P450 2E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment
disease_progression		 ISO DNA:missense mutation:cds:677C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)		 RGD
CTD		 PMID:16706930 PMID:19923983 PMID:21644011 RGD:10449398 RGD:10449407 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility
no_association
disease_progression		 ISO DNA:polymorphism: :2756A>G(human)
DNA:polymorphism: :66A>G(human)
DNA:SNP::rs10925235(human)		 RGD PMID:15159311 PMID:21618417 PMID:22453148 PMID:26605150 RGD:11531136 RGD:11531137 RGD:11531140 RGD:11531141 NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs3776455(human)
DNA:haplotype:cds:		 CTD
RGD		 PMID:17136115 PMID:23940529 RGD:11531133 RGD:11531135 NCBI chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia OMIM
ClinVar		 PMID:9590180 PMID:11325820 PMID:12353271 PMID:14559852 PMID:15338273 More... NCBI chrNW_004624744:2,013,936...2,061,726
Ensembl chrNW_004624744:2,013,922...2,061,708 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility
disease_progression		 ISO DNA:SNP: :rs3918186(human)
DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)		 RGD PMID:20510681 PMID:23922896 RGD:11533639 RGD:11533646 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Notch3 notch receptor 3 ISO OMIM:247640 | OMIM:613065 MouseDO NCBI chrNW_004624901:2,292,257...2,328,433
Ensembl chrNW_004624901:2,292,640...2,328,433 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:mutation: :609C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)		 RGD
CTD		 PMID:11774269 PMID:17332311 PMID:18444911 RGD:10769347 RGD:10769359 NCBI chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chrNW_004624831:2,374,341...2,468,819
Ensembl chrNW_004624831:2,371,804...2,529,726 		JBrowse link
G Nup214 nucleoporin 214 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chrNW_004624760:4,655,347...4,738,811
Ensembl chrNW_004624760:4,655,247...4,739,298 		JBrowse link
G P2ry8 P2Y receptor family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chrNW_004624834:686,801...708,251 JBrowse link
G Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004624744:10,286,013...10,431,383
Ensembl chrNW_004624744:10,361,284...10,424,207 		JBrowse link
G Pax5 paired box 5 susceptibility ISO ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 OMIM
ClinVar		 PMID:24013638 PMID:24728327 PMID:25741868 PMID:27993330 PMID:28492532 More... NCBI chrNW_004624930:491,220...660,476
Ensembl chrNW_004624930:491,892...667,530 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) RGD PMID:22976839 RGD:11552580 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:blood (human) RGD PMID:27275197 RGD:11535025 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Prdm14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chrNW_004624744:21,092,091...21,121,313
Ensembl chrNW_004624744:21,104,798...21,120,591 		JBrowse link
G Pten phosphatase and tensin homolog ISO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chrNW_004624745:30,793,114...30,811,944
Ensembl chrNW_004624745:30,794,024...30,811,944 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) RGD PMID:23915977 RGD:10768836 NCBI chrNW_004624807:7,079,944...7,086,973
Ensembl chrNW_004624807:7,079,090...7,087,215 		JBrowse link
G Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor ISO OMIM NCBI chrNW_004624859:5,586,489...5,601,225
Ensembl chrNW_004624859:5,586,977...5,601,460 		JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO OMIM NCBI chrNW_004624758:5,750,458...5,755,861
Ensembl chrNW_004624758:5,747,765...5,863,612 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
G Tcn2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chrNW_004624747:6,970,707...6,987,946
Ensembl chrNW_004624747:6,971,289...6,987,440 		JBrowse link
G Tert telomerase reverse transcriptase ISO DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) RGD PMID:15621763 PMID:23066086 RGD:11038654 RGD:11038667 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chrNW_004624793:11,515,047...11,644,073
Ensembl chrNW_004624793:11,511,446...11,579,008 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Tpmt thiopurine S-methyltransferase treatment
no_association		 ISO DNA:SNPs:multiple
DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human)
DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human)
DNA:SNPs: :multiple		 RGD PMID:17164697 PMID:22009189 PMID:24499706 RGD:10766474 RGD:11038720 RGD:11038723 NCBI chrNW_004624756:8,511,275...8,532,100
Ensembl chrNW_004624756:8,511,315...8,531,745 		JBrowse link
G Ttc12 tetratricopeptide repeat domain 12 ISO DNA:hypermethylation:5'end:CpG dinucleotide RGD PMID:17657212 RGD:405866376 NCBI chrNW_004624784:8,655,543...8,751,307
Ensembl chrNW_004624784:8,655,408...8,752,397 		JBrowse link
G Tyms thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility
no_association		 ISO DNA:missense mutation, haplotype: :p.R399Q (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R194W (human)
DNA:missense mutation: :p.R399Q (human)		 RGD
CTD		 PMID:19101034 PMID:21983886 RGD:11252110 RGD:11252192 NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266 		JBrowse link
Acute Lymphoblastic Leukemia, with Lymphomatous Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 More... NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491 		JBrowse link
G Crlf2 cytokine receptor like factor 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272 NCBI chrNW_004624834:596,067...610,333 JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:22897847 PMID:22955920 NCBI chrNW_004624759:19,067,933...19,103,007
Ensembl chrNW_004624759:19,067,856...19,098,859 		JBrowse link
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 NCBI chrNW_004624736:9,838,781...9,848,514 JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 More... NCBI chrNW_004624742:29,631,391...29,723,981
Ensembl chrNW_004624742:29,689,965...29,723,981 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: LYMPHOMATOUS ALL ClinVar PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 More... NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
adenoid cystic carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 (Colton blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624783:164,615...177,317
Ensembl chrNW_004624783:164,609...177,766 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004624816:6,329,888...6,521,535
Ensembl chrNW_004624816:6,332,612...6,521,535 		JBrowse link
G Arid4b AT-rich interaction domain 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624775:15,152,840...15,300,160
Ensembl chrNW_004624775:15,152,950...15,301,078 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624791:1,610,169...1,785,512
Ensembl chrNW_004624791:1,610,169...1,785,477 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624798:3,164,145...3,223,810
Ensembl chrNW_004624798:3,165,393...3,225,181 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G Atr ATR serine/threonine kinase treatment ISO RGD PMID:32001675 RGD:150340693 NCBI chrNW_004624730:19,022,012...19,145,474
Ensembl chrNW_004624730:19,022,070...19,145,306 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532 NCBI chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624833:1,367,878...1,468,257
Ensembl chrNW_004624833:1,367,781...1,468,400 		JBrowse link
G Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873 		JBrowse link
G Bcorl1 BCL6 corepressor like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624797:9,211,625...9,283,435
Ensembl chrNW_004624797:9,240,209...9,282,020 		JBrowse link
G Brca1 BRCA1 DNA repair associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964 		JBrowse link
G Brd1 bromodomain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624752:811,457...853,702
Ensembl chrNW_004624752:811,451...854,039 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581 		JBrowse link
G Cmtr2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624746:13,475,463...13,484,063
Ensembl chrNW_004624746:13,475,816...13,484,046 		JBrowse link
G Cntn6 contactin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624773:11,059,466...11,417,825
Ensembl chrNW_004624773:11,059,333...11,417,733 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624809:9,585,426...9,794,582
Ensembl chrNW_004624809:9,586,225...9,793,208 		JBrowse link
G Dtl denticleless E3 ubiquitin protein ligase homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624771:17,612,264...17,660,772
Ensembl chrNW_004624771:17,612,284...17,662,405 		JBrowse link
G Dtx4 deltex E3 ubiquitin ligase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624864:1,475,383...1,502,047
Ensembl chrNW_004624864:1,478,059...1,498,066 		JBrowse link
G Efhd1 EF-hand domain family member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624843:5,346,767...5,377,596 JBrowse link
G En1 engrailed homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624732:26,333,642...26,338,450
Ensembl chrNW_004624732:26,333,653...26,337,904 		JBrowse link
G Erbin erbb2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624815:3,765,261...3,901,309
Ensembl chrNW_004624815:3,768,207...3,852,815 		JBrowse link
G Espl1 extra spindle pole bodies like 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624904:1,305,040...1,330,505
Ensembl chrNW_004624904:1,305,000...1,330,761 		JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624746:206,069...253,473
Ensembl chrNW_004624746:215,193...252,569 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624769:17,801,796...17,924,685
Ensembl chrNW_004624769:17,801,894...17,925,191 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:26619011 NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336 		JBrowse link
G Fgf16 fibroblast growth factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624836:3,521,170...3,541,844
Ensembl chrNW_004624836:3,521,243...3,541,824 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:26619011 NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624733:12,964,893...12,979,198
Ensembl chrNW_004624733:12,964,746...12,976,732 		JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624827:4,813,203...5,086,326
Ensembl chrNW_004624827:4,817,092...5,086,488 		JBrowse link
G Gas2 growth arrest specific 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624766:13,610,229...13,741,604
Ensembl chrNW_004624766:13,612,702...13,741,606 		JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624793:385,846...410,934
Ensembl chrNW_004624793:385,812...410,934 		JBrowse link
G Gins2 GINS complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624746:2,109,655...2,116,957
Ensembl chrNW_004624746:2,109,667...2,116,925 		JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624848:2,522,935...2,588,758
Ensembl chrNW_004624848:2,525,153...2,560,025 		JBrowse link
G H1-4 H1.4 linker histone, cluster member ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624756:771,688...772,950
Ensembl chrNW_004624756:772,241...772,903 		JBrowse link
G Homer3 homer scaffold protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624908:1,970,739...1,977,750
Ensembl chrNW_004624908:1,971,064...1,976,152 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chrNW_004624765:7,806,560...7,825,520 JBrowse link
G Igfbp2 insulin like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624823:8,460,968...8,486,495
Ensembl chrNW_004624823:8,460,553...8,486,495 		JBrowse link
G Il17rd interleukin 17 receptor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624822:150,955...219,939
Ensembl chrNW_004624822:150,992...214,107 		JBrowse link
G Insrr insulin receptor related receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624885:1,971,442...1,987,595
Ensembl chrNW_004624885:1,971,345...1,987,231 		JBrowse link
G Irx4 iroquois homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624751:913,127...916,583
Ensembl chrNW_004624751:913,691...916,842 		JBrowse link
G Isyna1 inositol-3-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624908:1,658,512...1,661,507
Ensembl chrNW_004624908:1,658,512...1,661,640 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624801:5,613,752...5,646,046
Ensembl chrNW_004624801:5,613,861...5,650,214 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624741:11,647,723...11,683,137
Ensembl chrNW_004624741:11,647,463...11,683,488 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:14615376 PMID:28492532 PMID:33040328 NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
G Jmjd1c jumonji domain containing 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624791:306,827...589,134
Ensembl chrNW_004624791:365,726...588,870 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624849:2,129,154...2,317,640
Ensembl chrNW_004624849:2,129,357...2,319,538 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624780:1,237,326...1,378,718
Ensembl chrNW_004624780:1,240,292...1,376,072 		JBrowse link
G Kdm6a lysine demethylase 6A exacerbates ISO CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human)
DNA:mutations:multiple: (human)		 CTD
RGD		 PMID:23685749 PMID:31483290 RGD:150429732 RGD:150429736 NCBI chrNW_004624887:1,065,173...1,279,660
Ensembl chrNW_004624887:1,065,883...1,279,186 		JBrowse link
G Kdm6b lysine demethylase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624786:10,413,670...10,435,118
Ensembl chrNW_004624786:10,425,816...10,433,806 		JBrowse link
G Kmt2c lysine methyltransferase 2C disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:23685749 PMID:31483290 RGD:150429736 NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624904:655,192...681,046
Ensembl chrNW_004624904:655,080...681,112 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911 		JBrowse link
G Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624888:46,089...686,823
Ensembl chrNW_004624888:46,214...687,291 		JBrowse link
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624739:27,132,533...28,430,765
Ensembl chrNW_004624739:27,134,993...28,430,686 		JBrowse link
G Maml3 mastermind like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624777:19,928,442...20,353,784
Ensembl chrNW_004624777:19,927,024...20,093,002 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624828:5,489,085...5,511,166
Ensembl chrNW_004624828:5,488,814...5,511,445 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624856:4,966,545...4,970,226
Ensembl chrNW_004624856:4,967,732...4,969,754 		JBrowse link
G Mark2 microtubule affinity regulating kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624767:22,346,467...22,419,325 JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004624730:47,104,929...47,693,885
Ensembl chrNW_004624730:47,104,319...47,284,839 		JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624804:8,796,383...8,957,343
Ensembl chrNW_004624804:8,852,345...8,955,868 		JBrowse link
G Mier2 MIER family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624828:8,030,391...8,054,349
Ensembl chrNW_004624828:8,036,450...8,052,151 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624752:653,224...675,875
Ensembl chrNW_004624752:654,076...675,863 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624941:50,651...71,380
Ensembl chrNW_004624941:50,840...70,767 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 PMID:26829750 NCBI chrNW_004624886:2,455,704...2,489,593 JBrowse link
G Mybl1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624744:24,736,813...24,775,427
Ensembl chrNW_004624744:24,736,861...24,770,884 		JBrowse link
G Mycbp MYC binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624764:21,478,838...21,486,545 JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624865:780,163...785,776 JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624914:636,348...690,708
Ensembl chrNW_004624914:636,417...690,694 		JBrowse link
G Nfib nuclear factor I B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624736:18,372,418...18,586,390
Ensembl chrNW_004624736:18,377,624...18,586,424 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624733:12,781,693...12,929,861
Ensembl chrNW_004624733:12,786,347...12,927,980 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 treatment ISO RGD PMID:23027130 RGD:150519921 NCBI chrNW_004624768:15,239,111...15,619,979
Ensembl chrNW_004624768:15,252,354...15,619,601 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624893:632,514...636,656
Ensembl chrNW_004624893:632,930...636,664 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624772:17,023,837...17,057,160
Ensembl chrNW_004624772:17,022,967...17,057,447 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:15930273 PMID:17376864 PMID:18074223 PMID:19366826 PMID:22120714 More... NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624735:7,534,483...7,702,079
Ensembl chrNW_004624735:7,534,506...7,700,305 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Pygb glycogen phosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624939:273,448...302,604
Ensembl chrNW_004624939:270,652...302,608 		JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624752:11,766,033...12,027,804
Ensembl chrNW_004624752:11,765,679...12,022,320 		JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200 		JBrowse link
G Sf3b1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:25741868 PMID:26619011 NCBI chrNW_004624889:2,796,351...2,835,592 JBrowse link
G Slc24a3 solute carrier family 24 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624741:19,808,186...20,298,772
Ensembl chrNW_004624741:19,808,255...20,297,056 		JBrowse link
G Slc3a2 solute carrier family 3 member 2 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chrNW_004624926:1,301,866...1,314,598
Ensembl chrNW_004624926:1,301,584...1,315,707 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chrNW_004624746:1,325,368...1,349,616 JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624795:2,712,524...2,730,028
Ensembl chrNW_004624795:2,714,525...2,729,961 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624909:617,015...668,513
Ensembl chrNW_004624909:630,062...668,512 		JBrowse link
G Son SON DNA and RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624745:21,762,273...21,798,587
Ensembl chrNW_004624745:21,763,010...21,797,817 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624846:4,043,010...4,046,660
Ensembl chrNW_004624846:4,044,893...4,046,248 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624756:5,128,848...5,156,174 JBrowse link
G Srcap Snf2 related CREBBP activator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624782:13,818,019...13,862,379
Ensembl chrNW_004624782:13,817,999...13,862,046 		JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624812:503,703...551,907
Ensembl chrNW_004624812:509,841...553,894 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Tlk1 tousled like kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624787:8,489,175...8,651,626
Ensembl chrNW_004624787:8,489,175...8,651,614 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar
RGD		 PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 More... RGD:8547828 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Uhrf1 ubiquitin like with PHD and ring finger domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004624828:4,898,786...4,929,136
Ensembl chrNW_004624828:4,898,677...4,929,872 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624743:3,635,086...3,743,332 JBrowse link
G Wnt5b Wnt family member 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624735:11,222,339...11,326,480
Ensembl chrNW_004624735:11,223,227...11,236,609 		JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO DNA:hypermethylation:3' utr: (human) RGD PMID:21692051 RGD:11041796 NCBI chrNW_004624741:21,691,099...21,768,267
Ensembl chrNW_004624741:21,691,199...21,767,790 		JBrowse link
G Zim2 zinc finger imprinted 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004624832:1,233,119...1,237,814 JBrowse link
adenoid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO RGD PMID:10489374 RGD:150540314 NCBI chrNW_004624747:12,717,713...12,746,040
Ensembl chrNW_004624747:12,717,707...12,746,724 		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: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 OMIM
ClinVar		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chrNW_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883 		JBrowse link
G Ccn5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,744,127...9,755,685
Ensembl chrNW_004624790:9,744,078...9,755,375 		JBrowse link
G Cd247 CD247 molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More... NCBI chrNW_004624826:5,504,676...5,574,037
Ensembl chrNW_004624826:5,505,569...5,573,783 		JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chrNW_004624784:13,738,424...13,748,311
Ensembl chrNW_004624784:13,738,686...13,748,415 		JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cdh22 cadherin 22 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,369,972...8,437,595
Ensembl chrNW_004624790:8,369,964...8,438,683 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,686,027...8,692,119
Ensembl chrNW_004624790:8,686,027...8,691,898 		JBrowse link
G Dbndd2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,091,461...9,095,889
Ensembl chrNW_004624790:9,091,461...9,095,722 		JBrowse link
G Dnttip1 deoxynucleotidyltransferase terminal interacting protein 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,761,077...8,789,728
Ensembl chrNW_004624790:8,761,075...8,789,711 		JBrowse link
G Elmo2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,228,234...8,266,585
Ensembl chrNW_004624790:8,228,259...8,267,179 		JBrowse link
G Fitm2 fat storage inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:10,150,070...10,156,194
Ensembl chrNW_004624790:10,149,601...10,153,411 		JBrowse link
G Gdap1l1 ganglioside induced differentiation associated protein 1 like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:10,164,395...10,188,812
Ensembl chrNW_004624790:10,164,395...10,188,801 		JBrowse link
G Gtsf1l gametocyte specific factor 1 like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:10,620,586...10,621,394 JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:10,039,344...10,065,167
Ensembl chrNW_004624790:10,038,999...10,100,649 		JBrowse link
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:10,674,002...10,726,292
Ensembl chrNW_004624790:10,678,911...10,726,265 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:10,250,403...10,320,279
Ensembl chrNW_004624790:10,250,472...10,319,110 		JBrowse link
G Kcnk15 potassium two pore domain channel subfamily K member 15 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,721,178...9,727,005
Ensembl chrNW_004624790:9,721,364...9,726,830 		JBrowse link
G Kcns1 potassium voltage-gated channel modifier subfamily S member 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,399,267...9,405,503
Ensembl chrNW_004624790:9,399,965...9,407,376 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,182,374...9,194,235
Ensembl chrNW_004624790:9,182,847...9,194,384 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Mybl2 MYB proto-oncogene like 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:10,629,771...10,665,187
Ensembl chrNW_004624790:10,630,158...10,664,982 		JBrowse link
G Ncoa5 nuclear receptor coactivator 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,503,605...8,538,243
Ensembl chrNW_004624790:8,503,611...8,538,238 		JBrowse link
G Neurl2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,692,232...8,694,648
Ensembl chrNW_004624790:8,692,235...8,694,648 		JBrowse link
G Ocstamp osteoclast stimulatory transmembrane protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,110,491...8,116,657 JBrowse link
G Oser1 oxidative stress responsive serine rich 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:10,228,671...10,244,275 JBrowse link
G Pabpc1l poly(A) binding protein cytoplasmic 1 like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,545,719...9,572,447
Ensembl chrNW_004624790:9,545,145...9,570,872 		JBrowse link
G Pcif1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,647,292...8,660,138
Ensembl chrNW_004624790:8,647,317...8,660,080 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,075,733...9,084,961
Ensembl chrNW_004624790:9,075,773...9,084,959 		JBrowse link
G Pkig cAMP-dependent protein kinase inhibitor gamma ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,829,686...9,936,336
Ensembl chrNW_004624790:9,829,686...9,871,564 		JBrowse link
G Pltp phospholipid transfer protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,673,212...8,686,094
Ensembl chrNW_004624790:8,673,089...8,685,942 		JBrowse link
G R3hdml R3H domain containing like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:10,104,966...10,116,118
Ensembl chrNW_004624790:10,102,516...10,115,267 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 ClinVar PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 More... NCBI chrNW_004624767:10,694,867...10,698,041
Ensembl chrNW_004624767:10,694,867...10,698,001 		JBrowse link
G Rbpjl recombination signal binding protein for immunoglobulin kappa J region like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,173,059...9,185,271
Ensembl chrNW_004624790:9,173,653...9,184,378 		JBrowse link
G Rims4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,654,266...9,720,522
Ensembl chrNW_004624790:9,658,850...9,721,084 		JBrowse link
G Sdc4 syndecan 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,146,371...9,166,729
Ensembl chrNW_004624790:9,145,745...9,169,526 		JBrowse link
G Serinc3 serine incorporator 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,951,067...9,983,251
Ensembl chrNW_004624790:9,951,233...9,980,234 		JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,539,103...8,576,877
Ensembl chrNW_004624790:8,537,185...8,576,861 		JBrowse link
G Slc13a3 solute carrier family 13 member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,028,054...8,104,123
Ensembl chrNW_004624790:8,028,103...8,105,871 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:7,967,398...7,982,312
Ensembl chrNW_004624790:7,966,694...7,982,367 		JBrowse link
G Slc35c2 solute carrier family 35 member C2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,268,219...8,281,085
Ensembl chrNW_004624790:8,268,220...8,281,912 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,235,830...9,238,562
Ensembl chrNW_004624790:9,235,650...9,239,231 		JBrowse link
G Snx21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,722,730...8,745,770
Ensembl chrNW_004624790:8,737,721...8,745,860 		JBrowse link
G Spata25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,695,832...8,697,063
Ensembl chrNW_004624790:8,695,898...8,697,323 		JBrowse link
G Spint4 serine peptidase inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,812,003...8,818,205 JBrowse link
G Stk4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,415,172...9,521,103
Ensembl chrNW_004624790:9,415,177...9,521,051 		JBrowse link
G Sys1 SYS1 golgi trafficking protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,121,986...9,127,485
Ensembl chrNW_004624790:9,120,280...9,127,567 		JBrowse link
G Tomm34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,523,612...9,542,475
Ensembl chrNW_004624790:9,523,111...9,543,154 		JBrowse link
G Tox2 TOX high mobility group box family member 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:10,339,928...10,467,855
Ensembl chrNW_004624790:10,339,858...10,467,837 		JBrowse link
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:7,992,996...7,996,191
Ensembl chrNW_004624790:7,992,762...7,998,639 		JBrowse link
G Tp53tg5 TP53 target 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,084,921...9,115,285
Ensembl chrNW_004624790:9,110,692...9,116,287 		JBrowse link
G Ttpal alpha tocopherol transfer protein like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,986,075...9,999,838
Ensembl chrNW_004624790:9,989,546...10,004,122 		JBrowse link
G Ube2c ubiquitin conjugating enzyme E2 C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,756,758...8,760,078
Ensembl chrNW_004624790:8,751,662...8,760,057 		JBrowse link
G Wfdc10a WAP four-disulfide core domain 10A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,832,808...8,836,126 JBrowse link
G Wfdc2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,928,002...8,934,503 JBrowse link
G Wfdc3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,789,875...8,800,843 JBrowse link
G Wfdc5 WAP four-disulfide core domain 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,386,787...9,393,060
Ensembl chrNW_004624790:9,387,902...9,393,179 		JBrowse link
G Wfdc8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,859,310...8,868,261
Ensembl chrNW_004624790:8,860,940...8,868,261 		JBrowse link
G Wfdc9 WAP four-disulfide core domain 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,844,701...8,846,216
Ensembl chrNW_004624790:8,844,701...8,846,594 		JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,574,003...9,593,821
Ensembl chrNW_004624790:9,574,027...9,593,825 		JBrowse link
G Znf335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,624,316...8,646,712
Ensembl chrNW_004624790:8,625,150...8,647,441 		JBrowse link
G Zswim1 zinc finger SWIM-type containing 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,698,022...8,702,316
Ensembl chrNW_004624790:8,698,522...8,702,186 		JBrowse link
G Zswim3 zinc finger SWIM-type containing 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,703,660...8,720,300
Ensembl chrNW_004624790:8,703,675...8,720,270 		JBrowse link
adult T-cell leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16497974 NCBI chrNW_004624801:7,727,084...7,735,946
Ensembl chrNW_004624801:7,727,093...7,735,940 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chrNW_004624756:17,742,822...17,894,931
Ensembl chrNW_004624756:17,743,834...17,894,753 		JBrowse link
G Card11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624788:10,965,226...10,974,215
Ensembl chrNW_004624788:10,966,207...10,971,180 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624795:2,777,766...2,787,664
Ensembl chrNW_004624795:2,779,627...2,788,897 		JBrowse link
G Cd163 CD163 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349 		JBrowse link
G Cd274 CD274 molecule disease_progression ISO RGD PMID:27418641 RGD:41412177 NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814 		JBrowse link
G Cd28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624765:12,650,092...12,667,168 JBrowse link
G Cd68 CD68 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chrNW_004624786:10,195,337...10,197,963 JBrowse link
G Cd80 CD80 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chrNW_004624731:28,630,540...28,655,297
Ensembl chrNW_004624731:28,630,446...28,651,994 		JBrowse link
G Cd86 CD86 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712 		JBrowse link
G Csnk1a1 casein kinase 1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624774:8,815,021...8,862,657
Ensembl chrNW_004624774:8,815,023...8,862,878 		JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624741:1,566,380...1,635,365 JBrowse link
G Csnk2b casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624754:24,533,134...24,538,233 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO protein:increased expression:peripheral blood mononuclear cell:
DNA:polymorphism:promoter: -670 G>A(human)		 RGD PMID:7513372 PMID:17962369 RGD:11049147 RGD:11049453 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:23797717 PMID:23962110 RGD:38456007 NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624933:248,298...456,933
Ensembl chrNW_004624933:389,627...456,520 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624739:4,343,164...4,353,123
Ensembl chrNW_004624739:4,343,246...4,352,066 		JBrowse link
G Icos inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861 		JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8800741 PMID:23962110 RGD:10755707 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624765:3,016,569...3,171,443
Ensembl chrNW_004624765:3,017,571...3,164,136 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:8704212 PMID:23962110 RGD:11049460 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453 		JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chrNW_004624733:39,412,800...39,420,079 JBrowse link
G Il5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Jak3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:CD4+ T cell: RGD PMID:27307595 RGD:11532670 NCBI chrNW_004624886:2,455,704...2,489,593 JBrowse link
G Notch1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Plcg1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624919:1,766,533...1,800,130
Ensembl chrNW_004624919:1,766,149...1,803,097 		JBrowse link
G Prkcb protein kinase C beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624782:8,974,995...9,287,609
Ensembl chrNW_004624782:8,974,765...9,287,702 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO RGD PMID:1763056 RGD:1599285 NCBI chrNW_004624758:5,750,458...5,755,861
Ensembl chrNW_004624758:5,747,765...5,863,612 		JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chrNW_004624746:16,992,049...17,020,809
Ensembl chrNW_004624746:16,992,110...17,019,857 		JBrowse link
G Tlx1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:1683261 PMID:1717256 RGD:1599439 NCBI chrNW_004624831:710,787...717,367
Ensembl chrNW_004624831:710,389...717,339 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522 		JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289 		JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004624828:3,838,464...3,896,698
Ensembl chrNW_004624828:3,838,706...3,897,080 		JBrowse link
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blnk B cell linker susceptibility ISO DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10583958 RGD:1600518 NCBI chrNW_004624737:7,565,169...7,681,102 JBrowse link
G Btk Bruton tyrosine kinase susceptibility ISO ClinVar Annotator: match by term: Agammaglobulinemia
DNA:insertions, point mutations		 ClinVar
RGD		 PMID:8162018 PMID:10352268 RGD:1600526 NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576 		JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897 		JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14660746 RGD:1599837 NCBI chrNW_004624760:6,122,626...6,148,033
Ensembl chrNW_004624760:6,122,626...6,147,076 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
agammaglobulinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 More... NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897 		JBrowse link
agammaglobulinemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:33951726 NCBI chrNW_004624767:1,376,649...1,404,382
Ensembl chrNW_004624767:1,394,704...1,404,406 		JBrowse link
agammaglobulinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,411,933...10,413,969
Ensembl chrNW_004624747:10,412,012...10,413,969 		JBrowse link
G CUNH22orf15 chromosome unknown C22orf15 homolog ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,413,941...10,416,539 JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,357,560...10,359,779
Ensembl chrNW_004624747:10,357,627...10,359,779 		JBrowse link
G Mif macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,307,826...10,308,649
Ensembl chrNW_004624747:10,303,919...10,308,821 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,398,167...10,408,397
Ensembl chrNW_004624747:10,398,130...10,408,376 		JBrowse link
G Slc2a11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,314,718...10,357,501
Ensembl chrNW_004624747:10,315,205...10,344,045 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719 		JBrowse link
G Vpreb3 V-set pre-B cell surrogate light chain 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,422,747...10,425,633
Ensembl chrNW_004624747:10,424,262...10,425,438 		JBrowse link
G Znf70 zinc finger protein 70 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,426,982...10,431,945
Ensembl chrNW_004624747:10,426,991...10,432,859 		JBrowse link
agammaglobulinemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624907:811,069...818,218
Ensembl chrNW_004624907:810,984...818,614 		JBrowse link
agammaglobulinemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624737:6,921,619...6,970,113
Ensembl chrNW_004624737:6,921,222...6,970,488 		JBrowse link
G Blnk B cell linker ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004624737:7,565,169...7,681,102 JBrowse link
G Cc2d2b coiled-coil and C2 domain containing 2B ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624737:7,298,646...7,417,751
Ensembl chrNW_004624737:7,300,871...7,418,559 		JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624737:7,431,033...7,448,609
Ensembl chrNW_004624737:7,431,051...7,449,346 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624737:7,011,792...7,193,903
Ensembl chrNW_004624737:7,084,818...7,191,918 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624737:6,980,716...7,011,681
Ensembl chrNW_004624737:6,984,234...7,012,142 		JBrowse link
G Znf518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 More... NCBI chrNW_004624737:7,519,340...7,544,529
Ensembl chrNW_004624737:7,537,816...7,542,267 		JBrowse link
agammaglobulinemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624760:6,122,626...6,148,033
Ensembl chrNW_004624760:6,122,626...6,147,076 		JBrowse link
agammaglobulinemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
agammaglobulinemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar		 PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25488983 More... NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610 		JBrowse link
Agammaglobulinemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: TCF3-related condition ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307 NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
agammaglobulinemia 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 More... NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
agammaglobulinemia 8B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
agammaglobulinemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30718914 NCBI chrNW_004624754:23,602,940...23,606,903
Ensembl chrNW_004624754:23,603,141...23,640,406 		JBrowse link
anaplastic large cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 More... NCBI chrNW_004624738:11,094,699...12,010,349
Ensembl chrNW_004624738:11,095,134...11,288,891 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164 NCBI chrNW_004624734:2,233,932...2,239,687
Ensembl chrNW_004624734:2,233,547...2,241,436 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chrNW_004624901:402,969...404,741
Ensembl chrNW_004624901:403,235...404,269 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157 PMID:17261581 NCBI chrNW_004624818:957,597...996,565 JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chrNW_004624739:11,352,040...11,354,019
Ensembl chrNW_004624739:11,352,141...11,352,809 		JBrowse link
angioimmunoblastic T-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Angioimmunoblastic T-cell lymphoma ClinVar PMID:19797729 PMID:27210295 PMID:27276561 PMID:28337768 PMID:28492532 More... NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		JBrowse link
Asrar Facharzt Haque Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome ClinVar PMID:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 More... NCBI chrNW_004624754:5,296,083...5,330,445
Ensembl chrNW_004624754:5,296,173...5,329,778 		JBrowse link
autoimmune lymphoproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:16199547 PMID:18948840 PMID:22237435 PMID:25741868 More... NCBI chrNW_004624791:15,243,074...15,259,362
Ensembl chrNW_004624791:15,242,432...15,259,508 		JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004624791:15,119,267...15,154,722
Ensembl chrNW_004624791:15,119,731...15,154,507 		JBrowse link
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:8,137,031...8,172,876
Ensembl chrNW_004624771:8,136,965...8,172,951 		JBrowse link
G Casp10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:11973654 PMID:25741868 PMID:27577878 PMID:27872624 PMID:28492532 More... NCBI chrNW_004624889:31,132...63,774 JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087 		JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:8,034,225...8,051,451
Ensembl chrNW_004624771:8,036,701...8,051,998 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004624737:39,649...41,241 JBrowse link
G CUNH1orf105 chromosome unknown C1orf105 homolog ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:9,195,036...9,228,238 JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:8,003,208...8,033,981
Ensembl chrNW_004624771:8,003,295...8,034,043 		JBrowse link
G Dnm3 dynamin 3 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:9,247,463...9,838,276
Ensembl chrNW_004624771:9,247,218...9,838,254 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant OMIM
ClinVar		 PMID:1090885 PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 More... NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Faslg Fas ligand ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant OMIM
ClinVar		 PMID:8787672 PMID:9536098 PMID:16627752 PMID:17576681 PMID:17605793 More... NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825 		JBrowse link
G Ifit2 interferon induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004624737:123,044...129,222
Ensembl chrNW_004624737:119,458...131,567 		JBrowse link
G Ifit3 interferon induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004624737:137,866...160,377
Ensembl chrNW_004624737:137,779...160,525 		JBrowse link
G Ifit5 interferon induced protein with tetratricopeptide repeats 5 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chrNW_004624737:297,012...303,449 JBrowse link
G Klhl20 kelch like family member 20 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:8,068,522...8,117,329 JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004624737:49,471...82,981
Ensembl chrNW_004624737:49,371...83,514 		JBrowse link
G Lipf lipase F, gastric type ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chrNW_004624791:14,961,554...14,972,310
Ensembl chrNW_004624791:14,961,557...14,972,238 		JBrowse link
G Lipm lipase family member M ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004624791:15,097,263...15,119,135
Ensembl chrNW_004624791:15,097,419...15,117,158 		JBrowse link
G Lipn lipase family member N ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004624791:15,050,707...15,066,223
Ensembl chrNW_004624791:15,055,126...15,065,876 		JBrowse link
G Mettl13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:9,842,545...9,901,846
Ensembl chrNW_004624771:9,887,876...9,901,799 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:10,066,170...10,080,257
Ensembl chrNW_004624771:10,065,788...10,080,680 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:9,234,218...9,236,991
Ensembl chrNW_004624771:9,234,242...9,236,987 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:8,282,622...8,293,799
Ensembl chrNW_004624771:8,282,062...8,294,340 		JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:7,837,547...7,948,217 JBrowse link
G Rnls renalase, FAD dependent amine oxidase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chrNW_004624791:14,542,625...14,873,393 JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:7,955,778...7,966,637
Ensembl chrNW_004624771:7,955,739...7,966,637 		JBrowse link
G Slc16a12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chrNW_004624737:312,039...405,432
Ensembl chrNW_004624737:312,039...365,915 		JBrowse link
G Slc9c2 solute carrier family 9 member C2 (putative) ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:8,175,164...8,268,303
Ensembl chrNW_004624771:8,187,118...8,268,333 		JBrowse link
G Stambpl1 STAM binding protein like 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004624791:15,185,185...15,231,854
Ensembl chrNW_004624791:15,186,030...15,234,162 		JBrowse link
G Suco SUN domain containing ossification factor ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:9,094,893...9,168,989
Ensembl chrNW_004624771:9,096,453...9,168,731 		JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:8,711,093...8,722,518
Ensembl chrNW_004624771:8,711,017...8,722,539 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:8,580,489...8,599,735 JBrowse link
G Vamp4 vesicle associated membrane protein 4 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:9,986,835...10,034,112 JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004624771:7,958,343...7,995,351
Ensembl chrNW_004624771:7,980,922...7,995,017 		JBrowse link
autoimmune lymphoproliferative syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp10 caspase 10 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A OMIM
ClinVar		 PMID:9536098 PMID:10412980 PMID:11973654 PMID:16199547 PMID:16446975 More... NCBI chrNW_004624889:31,132...63,774 JBrowse link
autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi2 abl interactor 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,971,867...13,091,446
Ensembl chrNW_004624765:12,998,315...13,091,370 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:74,080...170,565 JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624782:14,519,283...14,654,514 JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,370,578...13,504,485
Ensembl chrNW_004624765:13,431,825...13,466,969 		JBrowse link
G Casp10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624889:31,132...63,774 JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar Annotator: match by term: Caspase-8 deficiency OMIM
ClinVar		 PMID:9536098 PMID:11343122 PMID:12353035 PMID:12577056 PMID:15601643 More... NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087 		JBrowse link
G Cd28 CD28 molecule ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,650,092...12,667,168 JBrowse link
G Cdk15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,550,267...14,641,749
Ensembl chrNW_004624765:14,555,207...14,641,545 		JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Fam117b family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,661,928...13,782,962
Ensembl chrNW_004624765:13,701,345...13,782,952 		JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:361,645...416,374
Ensembl chrNW_004624899:389,719...416,603 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,399,143...14,402,970 JBrowse link
G Ica1l islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,547,437...13,687,641
Ensembl chrNW_004624765:13,588,073...13,687,250 		JBrowse link
G Icos inducible T cell costimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861 		JBrowse link
G LOC101700295 cytochrome P450 20A1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,108,937...13,159,580
Ensembl chrNW_004624765:13,105,816...13,159,574 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:175,920...205,398 JBrowse link
G Nbeal1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,176,362...13,380,414
Ensembl chrNW_004624765:13,176,944...13,380,292 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624889:126,294...141,572
Ensembl chrNW_004624889:131,732...141,915 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,139,815...14,172,413 JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,867,547...12,994,605
Ensembl chrNW_004624765:12,922,083...12,990,363 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:255,042...275,258
Ensembl chrNW_004624899:255,042...275,235 		JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737 		JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:275,291...335,555
Ensembl chrNW_004624899:300,096...332,392 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,504,347...13,532,418
Ensembl chrNW_004624765:13,504,533...13,531,200 		JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcd protein kinase C delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar		 PMID:9536098 PMID:11976687 PMID:16199547 PMID:17576681 PMID:23319571 More... NCBI chrNW_004624822:4,035,819...4,062,907
Ensembl chrNW_004624822:4,033,130...4,059,555 		JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III ClinVar PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532 NCBI chrNW_004624822:4,081,012...4,140,702
Ensembl chrNW_004624822:4,091,523...4,130,083 		JBrowse link
autoimmune lymphoproliferative syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 4 | ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder OMIM
ClinVar		 PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder OMIM
ClinVar		 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More... NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a ClinVar PMID:4165068 PMID:4852259 PMID:7539157 PMID:7540117 PMID:8929361 More... NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Faslg Fas ligand ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b ClinVar PMID:8787672 PMID:25741868 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825 		JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi2 abl interactor 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,971,867...13,091,446
Ensembl chrNW_004624765:12,998,315...13,091,370 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:74,080...170,565 JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624782:14,519,283...14,654,514 JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,370,578...13,504,485
Ensembl chrNW_004624765:13,431,825...13,466,969 		JBrowse link
G Casp10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624889:31,132...63,774 JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087 		JBrowse link
G Cdk15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,550,267...14,641,749
Ensembl chrNW_004624765:14,555,207...14,641,545 		JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION OMIM
ClinVar		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098 PMID:10189842 More... NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Fam117b family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,661,928...13,782,962
Ensembl chrNW_004624765:13,701,345...13,782,952 		JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:361,645...416,374
Ensembl chrNW_004624899:389,719...416,603 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,399,143...14,402,970 JBrowse link
G Ica1l islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,547,437...13,687,641
Ensembl chrNW_004624765:13,588,073...13,687,250 		JBrowse link
G Icos inducible T cell costimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861 		JBrowse link
G LOC101700295 cytochrome P450 20A1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,108,937...13,159,580
Ensembl chrNW_004624765:13,105,816...13,159,574 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:175,920...205,398 JBrowse link
G Nbeal1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,176,362...13,380,414
Ensembl chrNW_004624765:13,176,944...13,380,292 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624889:126,294...141,572
Ensembl chrNW_004624889:131,732...141,915 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,139,815...14,172,413 JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,867,547...12,994,605
Ensembl chrNW_004624765:12,922,083...12,990,363 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:255,042...275,258
Ensembl chrNW_004624899:255,042...275,235 		JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737 		JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:275,291...335,555
Ensembl chrNW_004624899:300,096...332,392 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,504,347...13,532,418
Ensembl chrNW_004624765:13,504,533...13,531,200 		JBrowse link
Autoinflammation with Episodic Fever and Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:30591564 PMID:31827280 PMID:31827281 More... NCBI chrNW_004624756:21,806,570...21,837,351
Ensembl chrNW_004624756:21,805,599...21,830,699 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 OMIM
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chrNW_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424 		JBrowse link
B-cell acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia ClinVar PMID:23623386 PMID:25741868 NCBI chrNW_004624782:4,508,758...4,537,751
Ensembl chrNW_004624782:4,512,650...4,537,701 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia ClinVar PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532 NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acoxl acyl-CoA oxidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004624749:1,130,192...1,487,040 JBrowse link
G Aicda activation induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Apoe apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chrNW_004624907:1,752,322...1,755,308 JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chrNW_004624833:1,367,878...1,468,257
Ensembl chrNW_004624833:1,367,781...1,468,400 		JBrowse link
G Bcl2 BCL2 apoptosis regulator severity
no_association
treatment		 ISO protein:increased expression:B cell (human)
CTD Direct Evidence: marker/mechanism
DNA:snp:promoter:g.-938C>A (human)		 RGD
CTD		 PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 More... RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Bmf Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004624804:7,420,003...7,440,012
Ensembl chrNW_004624804:7,423,547...7,440,014 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 More... NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Btk Bruton tyrosine kinase treatment ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia RGD
ClinVar		 PMID:23045577 PMID:24869598 PMID:25741868 PMID:28492532 RGD:11040699 NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Cbl Cbl proto-oncogene severity ISO mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:		 RGD PMID:17804547 RGD:11038803 NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chrNW_004624730:65,877,175...65,949,099
Ensembl chrNW_004624730:65,882,486...65,949,464 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cd40lg CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cd5 CD5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chrNW_004624926:373,694...381,596
Ensembl chrNW_004624926:374,819...380,943 		JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)
DNA:polymorphism:multiple (human)		 RGD PMID:9269755 PMID:10090943 PMID:10552962 RGD:11250403 RGD:151665190 RGD:151665202 NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chrNW_004624768:18,386,415...18,468,879 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO protein:increased expression:T cell RGD PMID:15914560 PMID:16094420 RGD:11344923 RGD:11352246 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chrNW_004624963:468,673...479,317
Ensembl chrNW_004624963:469,408...479,207 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit severity ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:19484764 PMID:22739018 RGD:11252203 RGD:11252204 NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chrNW_004624847:5,385,718...5,511,408
Ensembl chrNW_004624847:5,385,764...5,511,227 		JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:25741868 PMID:26619011 NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336 		JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chrNW_004624826:51,387...59,117 JBrowse link
G Gnas GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Il10 interleukin 10 disease_progression
no_association		 ISO protein:increased expression:serum
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
DNA:SNPs: :multiple		 RGD PMID:10638947 PMID:19573080 PMID:22945689 RGD:11041895 RGD:11049165 RGD:11049174 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chrNW_004624807:4,636,357...4,641,022
Ensembl chrNW_004624807:4,636,374...4,641,022 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154 		JBrowse link
G Il1b interleukin 1 beta severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:		 RGD PMID:10870116 PMID:18271063 RGD:11051967 RGD:11522755 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10870116 PMID:18006695 RGD:11522755 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:12079517 PMID:12393648 PMID:18758461 RGD:11526160 RGD:11530024 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Itga4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chrNW_004624844:3,264,794...3,353,355
Ensembl chrNW_004624844:3,265,110...3,354,087 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004624830:1,320,034...1,422,774
Ensembl chrNW_004624830:1,321,387...1,424,389 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chrNW_004624747:21,725,813...21,768,123
Ensembl chrNW_004624747:21,725,395...21,759,453 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:B cell (human) RGD PMID:12673718 RGD:11541127 NCBI chrNW_004624870:33,293...122,536 JBrowse link
G Plcg2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:24869598 PMID:28492532 NCBI chrNW_004624746:5,678,057...5,824,663
Ensembl chrNW_004624746:5,682,666...5,821,855 		JBrowse link
G Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004624792:5,330,289...5,338,067 JBrowse link
G Polb DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chrNW_004624780:884,896...941,587 JBrowse link
G Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chrNW_004624734:2,337,649...2,471,319
Ensembl chrNW_004624734:2,335,243...2,470,811 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Prkd2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chrNW_004624832:6,885,627...6,915,316
Ensembl chrNW_004624832:6,886,327...6,915,179 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004624738:18,945,954...18,984,016
Ensembl chrNW_004624738:18,945,969...18,984,016 		JBrowse link
G Rbl2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chrNW_004624757:3,295,471...3,351,539
Ensembl chrNW_004624757:3,295,479...3,351,928 		JBrowse link
G Sf3b1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:23634996 PMID:25741868 PMID:26619011 NCBI chrNW_004624889:2,796,351...2,835,592 JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:26619011 NCBI chrNW_004624767:20,326,499...20,340,204
Ensembl chrNW_004624767:20,326,499...20,340,164 		JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chrNW_004624741:22,880,481...22,883,962 JBrowse link
G Tnf tumor necrosis factor disease_progression ISO protein:increased expression:bone marrow, blood, lymphocyte RGD PMID:12010662 PMID:22945689 RGD:10449463 RGD:11041895 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chrNW_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chrNW_004624748:12,527,221...12,555,551
Ensembl chrNW_004624748:12,527,478...12,555,405 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chrNW_004624786:10,175,534...10,179,233
Ensembl chrNW_004624786:10,175,859...10,179,233 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522 		JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chrNW_004624730:9,916,717...9,994,666
Ensembl chrNW_004624730:9,914,140...9,994,775 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO DNA:deletion: :
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic		 RGD
ClinVar		 PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 More... RGD:11075074 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:26619011 NCBI chrNW_004624833:375,817...424,499
Ensembl chrNW_004624833:375,820...424,499 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 no_association
severity		 ISO DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
DNA:SNP: :p.R399Q (rs25487) (human)		 RGD PMID:19484764 RGD:11252204 NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266 		JBrowse link
B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Bcl6 BCL6 transcription repressor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chrNW_004624730:69,145,035...69,167,583
Ensembl chrNW_004624730:69,154,080...69,167,689 		JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chrNW_004624754:23,742,506...23,750,668
Ensembl chrNW_004624754:23,742,509...23,750,062 		JBrowse link
G Btk Bruton tyrosine kinase treatment ISO human cell in a mouse model RGD PMID:25662332 PMID:28348046 RGD:11040764 RGD:124713554 NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chrNW_004624752:9,133,587...9,151,216
Ensembl chrNW_004624752:9,133,569...9,151,934 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Eaf2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chrNW_004624912:112,793...168,553
Ensembl chrNW_004624912:112,843...168,553 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit treatment
severity		 ISO RGD
MouseDO		 PMID:23982173 PMID:29456795 RGD:10755356 RGD:126781726 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chrNW_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650 		JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
G Kat5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chrNW_004624767:20,668,759...20,675,367
Ensembl chrNW_004624767:20,666,763...20,675,164 		JBrowse link
G Lgals1 galectin 1 ISO protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chrNW_004624752:10,220,115...10,223,434
Ensembl chrNW_004624752:10,219,872...10,223,317 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728 		JBrowse link
G Ptpn1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chrNW_004624790:5,070,537...5,135,243
Ensembl chrNW_004624790:5,073,476...5,135,181 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522 		JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chrNW_004624828:3,615,860...3,623,377 JBrowse link
B-lymphoblastic leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:21481795 RGD:11038814 NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973 		JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chrNW_004624752:23,469,237...23,605,803
Ensembl chrNW_004624752:23,470,201...23,573,648 		JBrowse link
G Bcl2l1 BCL2 like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO BCR/ABL fusion RGD PMID:9310467 RGD:41404633 NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131 		JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chrNW_004624754:23,742,506...23,750,668
Ensembl chrNW_004624754:23,742,509...23,750,062 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833 		JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191 		JBrowse link
G Crlf2 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chrNW_004624834:596,067...610,333 JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836 PMID:24413735 PMID:25807284 NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164 		JBrowse link
G F13a1 coagulation factor XIII A chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chrNW_004624756:19,103,064...19,259,632
Ensembl chrNW_004624756:19,103,327...19,259,964 		JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chrNW_004624742:3,112,827...3,123,424
Ensembl chrNW_004624742:3,112,801...3,124,301 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624771:11,861,537...11,886,154
Ensembl chrNW_004624771:11,856,884...11,887,066 		JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:mutations: :		 CTD
RGD		 PMID:22699455 PMID:24141364 RGD:11075072 NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:20585039 PMID:21818355 PMID:25006123 RGD:11526159 RGD:11530020 RGD:11530030 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chrNW_004624746:2,272,385...2,290,400
Ensembl chrNW_004624746:2,272,389...2,290,455 		JBrowse link
G Isx intestine specific homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chrNW_004624750:460,058...483,303
Ensembl chrNW_004624750:468,316...482,716 		JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chrNW_004624804:8,796,383...8,957,343
Ensembl chrNW_004624804:8,852,345...8,955,868 		JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chrNW_004624886:2,455,704...2,489,593 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Pax5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638 PMID:30643249 NCBI chrNW_004624930:491,220...660,476
Ensembl chrNW_004624930:491,892...667,530 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249 		JBrowse link
G Runx1 RUNX family transcription factor 1 onset ISO DNA:amplification RGD PMID:21822204 RGD:6482828 NCBI chrNW_004624745:22,921,180...23,158,250
Ensembl chrNW_004624745:22,921,120...23,157,876 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532 NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624831:1,882,114...2,012,341
Ensembl chrNW_004624831:1,882,077...2,012,341 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chrNW_004624848:2,380,827...2,395,807
Ensembl chrNW_004624848:2,380,670...2,396,314 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chrNW_004624899:2,401,861...2,473,762
Ensembl chrNW_004624899:2,406,282...2,473,883 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO RGD PMID:15488762 RGD:1549466 NCBI chrNW_004624786:10,175,534...10,179,233
Ensembl chrNW_004624786:10,175,859...10,179,233 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
B-lymphoblastic leukemia/lymphoma MLL rearranged term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Mixed phenotype acute leukemia with t(v;11q23.3) ClinVar PMID:25741868 NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
B-lymphoblastic leukemia/lymphoma with BCR-ABL1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:22658618 PMID:25741868 PMID:28492532 NCBI chrNW_004624738:29,083,696...29,108,792
Ensembl chrNW_004624738:29,083,692...29,108,792 		JBrowse link
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 PMID:30093976 NCBI chrNW_004624841:218,642...304,744
Ensembl chrNW_004624841:219,133...265,397 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 PMID:33471991 NCBI chrNW_004624782:8,752,510...8,780,972
Ensembl chrNW_004624782:8,751,866...8,780,884 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More... NCBI chrNW_004624735:12,345,326...12,351,783
Ensembl chrNW_004624735:12,345,844...12,351,637 		JBrowse link
B-lymphoblastic leukemia/lymphoma with hyperdiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
B-lymphoblastic leukemia/lymphoma with hypodiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624751:54,778...90,457
Ensembl chrNW_004624751:54,779...90,447 		JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chrNW_004624757:5,895,912...5,953,485 JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383K (human)		 OMIM
ClinVar
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518 NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chrNW_004624757:5,572,510...5,587,623
Ensembl chrNW_004624757:5,572,528...5,587,617 		JBrowse link
Burkitt lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P1PK blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chrNW_004624752:6,127,296...6,150,474
Ensembl chrNW_004624752:6,144,720...6,145,781 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Bbc3 BCL2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chrNW_004624832:6,467,716...6,476,754
Ensembl chrNW_004624832:6,470,475...6,476,754 		JBrowse link
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Burkitt lymphoma ClinVar PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 More... NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964 		JBrowse link
G Btk Bruton tyrosine kinase ameliorates
treatment		 ISO Human cell line in a mouse model
mRNA:increased expression:multiple (human)		 RGD PMID:28474336 PMID:30546948 RGD:124713565 RGD:124715474 NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Calr calreticulin treatment ISO human cell line and recombinant protein in a mouse model
human cells and recombinant protein in a mouse model		 RGD PMID:9858521 PMID:10961892 RGD:150521687 RGD:150521702 NCBI chrNW_004624901:511,295...515,208
Ensembl chrNW_004624901:511,052...516,757 		JBrowse link
G Cd40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cd79b CD79b molecule treatment ISO human cells in mouse model RGD PMID:17374736 RGD:151665154 NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004624745:31,279,868...31,288,600
Ensembl chrNW_004624745:31,276,314...31,289,063 		JBrowse link
G Gna13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004624870:3,278,870...3,323,015
Ensembl chrNW_004624870:3,278,898...3,323,153 		JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595 PMID:23143597 NCBI chrNW_004624764:8,175,841...8,177,444
Ensembl chrNW_004624764:8,175,372...8,177,451 		JBrowse link
G Mllt11 MLLT11 transcription factor 7 cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31587870 NCBI chrNW_004624772:18,762,099...18,768,629 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Burkitt lymphoma ClinVar
OMIM		 PMID:8220424 PMID:25157968 PMID:27993330 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Pbx1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chrNW_004624826:2,944,272...3,250,957
Ensembl chrNW_004624826:2,945,004...3,215,110 		JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004624767:19,481,158...19,601,036
Ensembl chrNW_004624767:19,480,522...19,614,051 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281 		JBrowse link
G Sall3 spalt like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004624806:1,432,771...1,454,794
Ensembl chrNW_004624806:1,435,617...1,454,779 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
Castleman disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15182131 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar
OMIM		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 More... NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777 		JBrowse link
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY ClinVar PMID:25741868 PMID:35235341 NCBI chrNW_004624827:4,499,655...4,586,301
Ensembl chrNW_004624827:4,499,287...4,585,771 		JBrowse link
G Slc12a9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624740:16,297,332...16,307,888
Ensembl chrNW_004624740:16,297,217...16,307,988 		JBrowse link
central nervous system lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ameliorates ISO RGD PMID:28552327 RGD:124715478 NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Cd79b CD79b molecule treatment ISO RGD PMID:28619981 RGD:151665208 NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (human) RGD PMID:22628023 RGD:7364831 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor treatment ISO RGD PMID:28619981 RGD:151665208 NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
childhood acute lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor disease_progression ISO mRNA, protein:increased expression:bone marrow, blood (human) RGD PMID:24393203 RGD:151356757 NCBI chrNW_004624746:18,705,017...18,760,345
Ensembl chrNW_004624746:18,706,663...18,760,203 		JBrowse link
Choanal Atresia and Lymphedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn14 protein tyrosine phosphatase non-receptor type 14 ISO ClinVar Annotator: match by term: Choanal atresia and lymphedema OMIM
ClinVar		 PMID:20826270 PMID:25741868 NCBI chrNW_004624771:19,489,069...19,625,328
Ensembl chrNW_004624771:19,495,821...19,573,568 		JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:28492532 NCBI chrNW_004624824:85,369...144,053
Ensembl chrNW_004624824:84,430...144,062 		JBrowse link
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621 		JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131 		JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,183,749...1,190,645 JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:756,298...759,056 JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168 		JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341 		JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:905,239...910,562 JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040 		JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624747:9,425,720...9,479,571
Ensembl chrNW_004624747:9,425,775...9,480,162 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624747:1,065,864...1,096,164
Ensembl chrNW_004624747:1,067,927...1,092,757 		JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975 		JBrowse link
G LOC101713307 protein HIRA ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:9...95,643 JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:488,396...562,084 JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684 		JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,221,703...1,248,398
Ensembl chrNW_004624747:1,221,631...1,248,391 		JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,417,004...1,446,211
Ensembl chrNW_004624747:1,420,835...1,446,143 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624747:9,504,525...9,521,315
Ensembl chrNW_004624747:9,506,138...9,519,176 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043 		JBrowse link
G Rimbp3c RIMS binding protein 3C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,110,596...1,115,995 JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624747:9,416,411...9,504,561
Ensembl chrNW_004624747:9,416,373...9,502,716 		JBrowse link
G Rtl10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:484,995...486,791 JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991 		JBrowse link
G Scarf2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958 		JBrowse link
G Sdf2l1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,195,043...1,197,105
Ensembl chrNW_004624747:1,195,055...1,197,105 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667 		JBrowse link
G Slc7a4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:647,571...686,870 JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480 		JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,450,236...1,473,467
Ensembl chrNW_004624747:1,446,412...1,473,600 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		JBrowse link
G Ube2l3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,125,009...1,178,595
Ensembl chrNW_004624747:1,125,022...1,177,524 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097 		JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,181,617...1,183,581
Ensembl chrNW_004624747:1,181,956...1,183,485 		JBrowse link
G Ypel1 yippee like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,248,026...1,274,909
Ensembl chrNW_004624747:1,248,026...1,274,869 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989 		JBrowse link
G Znf280a zinc finger protein 280A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:8,841,993...8,848,484 JBrowse link
G Znf280b zinc finger protein 280B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:8,816,707...8,835,136
Ensembl chrNW_004624747:8,819,889...8,821,529 		JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:356,794...367,202 JBrowse link
chromosome 22q11.2 microduplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621 		JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988 		JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:756,298...759,056 JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168 		JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341 		JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:905,239...910,562 JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191 		JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975 		JBrowse link
G LOC101713307 protein HIRA ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:9...95,643 JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:488,396...562,084 JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043 		JBrowse link
G Rtl10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:484,995...486,791 JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991 		JBrowse link
G Scarf2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667 		JBrowse link
G Slc7a4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:647,571...686,870 JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989 		JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:356,794...367,202 JBrowse link
chronic lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO protein:increased expression:peripheral blood mononuclear cell RGD PMID:27078856 RGD:13842476 NCBI chrNW_004624736:9,428,736...9,494,645 JBrowse link
G Arhgap44 Rho GTPase activating protein 44 ISO mRNA:increased expression: (human) RGD PMID:36595475 RGD:401901275 NCBI chrNW_004624877:662,595...851,762
Ensembl chrNW_004624877:661,998...850,431 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:12068308 PMID:12198537 PMID:12960123 PMID:14612909 PMID:14679157 More... NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:9450802 RGD:11522717 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:peripheral blood cells (human)
protein:decreased expression:blood, B cell (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)
DNA:mutation:multiple (human)		 RGD PMID:10090943 PMID:10329919 PMID:10516749 PMID:10753858 RGD:11531139 RGD:151665125 RGD:151665152 RGD:151665190 NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
G Cd86 CD86 molecule ISO DNA:hypermethylation (human) RGD PMID:23154584 RGD:11354975 NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:25741868 PMID:26619011 NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:21911837 RGD:11354912 NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO DNA:SNP: :rs872071 (human)
DNA:SNPs:3' utr:multiple
DNA:missense mutation:exon:p.L116R (human)		 RGD PMID:20090783 PMID:20123861 PMID:20731705 PMID:21791429 PMID:23897826 More... RGD:11526156 RGD:11526158 RGD:11530021 RGD:11530026 RGD:11530029 RGD:11530031 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:20956327 RGD:11340590 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26254371 RGD:11073982 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 susceptibility ISO protein:increased expression:B cell (human)
DNA:snp:cds:p.R620W (rs2476601) (human)		 RGD PMID:22569400 PMID:23287625 RGD:11533998 RGD:11535006 NCBI chrNW_004624772:9,472,869...9,552,751
Ensembl chrNW_004624772:9,472,913...9,550,990 		JBrowse link
G Sf3b1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:26619011 NCBI chrNW_004624889:2,796,351...2,835,592 JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:26619011 NCBI chrNW_004624767:20,326,499...20,340,204
Ensembl chrNW_004624767:20,326,499...20,340,164 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 More... NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:26619011 NCBI chrNW_004624833:375,817...424,499
Ensembl chrNW_004624833:375,820...424,499 		JBrowse link
Churg-Strauss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chrNW_004624759:17,263,570...17,290,046
Ensembl chrNW_004624759:17,263,969...17,287,723 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chrNW_004624737:30,325,962...30,526,311
Ensembl chrNW_004624737:30,324,515...30,526,486 		JBrowse link
G Il5 interleukin 5 severity ISO RGD PMID:22772323 RGD:6892720 NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22772323 RGD:6892720 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chrNW_004624786:970,288...973,344
Ensembl chrNW_004624786:966,452...973,337 		JBrowse link
CLAPO Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth OMIM
ClinVar		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,838,102...9,843,506
Ensembl chrNW_004624786:9,838,227...9,843,332 		JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,955,883...9,972,391
Ensembl chrNW_004624786:9,958,351...9,972,326 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,542,966...9,555,235
Ensembl chrNW_004624786:9,542,970...9,555,214 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,647,450...10,659,301
Ensembl chrNW_004624786:10,647,175...10,659,337 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,666,255...10,689,204
Ensembl chrNW_004624786:10,666,423...10,688,376 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,728,949...9,753,438
Ensembl chrNW_004624786:9,728,336...9,753,434 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,254,979...10,261,508
Ensembl chrNW_004624786:10,234,492...10,262,367 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,769,797...10,775,142
Ensembl chrNW_004624786:10,765,610...10,775,112 		JBrowse link
G Bacc1 BPTF associated chromatin complex component 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,559,130...9,561,847
Ensembl chrNW_004624786:9,557,766...9,562,800 		JBrowse link
G Bcl6b BCL6B transcription repressor ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,566,742...9,573,513
Ensembl chrNW_004624786:9,566,867...9,573,513 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,755,776...10,758,103 JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:11472359 PMID:18241230 PMID:25741868 PMID:28492532 NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9150729 PMID:9746782 PMID:15358621 PMID:25741868 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cd68 CD68 molecule ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,195,337...10,197,963 JBrowse link
G Cd81 CD81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624767:15,192,446...15,210,923
Ensembl chrNW_004624767:15,192,452...15,210,922 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,056,458...10,065,768
Ensembl chrNW_004624786:10,056,478...10,065,735 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,873,555...9,875,743
Ensembl chrNW_004624786:9,873,555...9,875,817 		JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,514,593...10,532,661
Ensembl chrNW_004624786:10,514,609...10,532,563 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624807:4,149,472...4,179,269
Ensembl chrNW_004624807:4,152,230...4,179,211 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,795,848...10,819,029
Ensembl chrNW_004624786:10,795,193...10,819,613 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,857,370...9,867,299
Ensembl chrNW_004624786:9,860,758...9,867,293 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) RGD PMID:26476407 RGD:11251730 NCBI chrNW_004624805:555,444...593,548
Ensembl chrNW_004624805:555,545...592,250 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,811,201...9,835,660
Ensembl chrNW_004624786:9,811,780...9,837,100 		JBrowse link
G Dnah2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,311,183...10,413,236
Ensembl chrNW_004624786:10,311,214...10,413,037 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,843,580...9,851,538
Ensembl chrNW_004624786:9,844,157...9,851,301 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,297,795...10,304,363
Ensembl chrNW_004624786:10,297,807...10,304,473 		JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,188,326...10,194,466
Ensembl chrNW_004624786:10,188,406...10,194,464 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,933,325...9,938,178 JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,866,689...9,873,242
Ensembl chrNW_004624786:9,867,704...9,874,886 		JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:7,263,219...7,269,847
Ensembl chrNW_004624786:7,262,539...7,269,946 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chrNW_004624826:23,930...34,735 JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,049,954...10,056,376
Ensembl chrNW_004624786:10,050,002...10,056,390 		JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,205,830...10,226,973
Ensembl chrNW_004624786:10,205,835...10,226,513 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,857,370...9,859,675
Ensembl chrNW_004624786:9,857,370...9,860,063 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,938,384...9,941,210
Ensembl chrNW_004624786:9,938,384...9,941,235 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,574,252...10,589,303
Ensembl chrNW_004624786:10,574,968...10,588,540 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,692,329...10,699,346
Ensembl chrNW_004624786:10,692,329...10,695,132 		JBrowse link
G Icos inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism
OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767		 CTD
MouseDO		 NCBI chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:11590134 PMID:15229184 PMID:20529958 PMID:25741868 PMID:28993958 NCBI chrNW_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841 		JBrowse link
G Il21 interleukin 21 ISO ClinVar Annotator: match by term: IL21 DEFICIENCY ClinVar PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chrNW_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304 		JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chrNW_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650 		JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,504,135...10,512,383
Ensembl chrNW_004624786:10,504,147...10,511,695 		JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,972,773...9,975,819
Ensembl chrNW_004624786:9,973,841...9,974,539 		JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,413,670...10,435,118
Ensembl chrNW_004624786:10,425,816...10,433,806 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chrNW_004624830:5,254,545...5,329,627
Ensembl chrNW_004624830:5,254,495...5,330,611 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297 		JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,199,320...10,202,997
Ensembl chrNW_004624786:10,199,141...10,202,984 		JBrowse link
G Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,436,970...10,437,882
Ensembl chrNW_004624786:10,436,970...10,437,890 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,941,300...9,953,026
Ensembl chrNW_004624786:9,941,296...9,953,011 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:16199547 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29477724 More... NCBI chrNW_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chrNW_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,019,307...10,034,624
Ensembl chrNW_004624786:10,022,717...10,034,624 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chrNW_004624870:33,293...122,536 JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,706,495...10,722,110
Ensembl chrNW_004624786:10,707,075...10,719,859 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,852,151...9,856,541
Ensembl chrNW_004624786:9,852,366...9,856,524 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,003,626...10,008,457
Ensembl chrNW_004624786:10,003,626...10,008,879 		JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,098,133...10,122,783
Ensembl chrNW_004624786:10,097,294...10,122,893 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 More... NCBI chrNW_004624767:10,678,547...10,680,130
Ensembl chrNW_004624767:10,678,359...10,680,132 		JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,556,891...9,558,946
Ensembl chrNW_004624786:9,556,874...9,558,946 		JBrowse link
G Sat2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,232,078...10,233,602
Ensembl chrNW_004624786:10,227,937...10,233,723 		JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,179,604...10,187,416
Ensembl chrNW_004624786:10,179,557...10,187,416 		JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,234,484...10,239,034 JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:7,321,622...7,357,270
Ensembl chrNW_004624786:7,322,188...7,357,220 		JBrowse link
G Slc16a11 solute carrier family 16 member 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,579,714...9,582,464
Ensembl chrNW_004624786:9,578,614...9,583,715 		JBrowse link
G Slc16a13 solute carrier family 16 member 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,575,407...9,579,052
Ensembl chrNW_004624786:9,574,583...9,579,048 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,903,176...9,908,953
Ensembl chrNW_004624786:9,902,509...9,909,684 		JBrowse link
G Slc35g6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,085,388...10,096,246 JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,202,988...10,204,808
Ensembl chrNW_004624786:10,202,988...10,204,358 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,034,794...10,038,171
Ensembl chrNW_004624786:10,034,685...10,036,388 		JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:7,218,533...7,248,593
Ensembl chrNW_004624786:7,218,590...7,249,538 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,047,087...10,049,324
Ensembl chrNW_004624786:10,046,666...10,052,108 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,742,842...10,745,381
Ensembl chrNW_004624786:10,741,929...10,745,359 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,017,349...10,018,658
Ensembl chrNW_004624786:10,017,352...10,018,582 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,435,352...10,436,385
Ensembl chrNW_004624786:10,435,363...10,436,374 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,975,903...9,978,343
Ensembl chrNW_004624786:9,976,052...9,977,825 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset ClinVar PMID:8072530 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 More... NCBI chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive ClinVar PMID:28492532 NCBI chrNW_004624752:6,797,453...6,799,437
Ensembl chrNW_004624752:6,797,983...6,799,097 		JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chrNW_004624786:10,165,694...10,176,042
Ensembl chrNW_004624786:10,166,168...10,175,433 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,175,534...10,179,233
Ensembl chrNW_004624786:10,175,859...10,179,233 		JBrowse link
G Tnk1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,995,167...10,003,298
Ensembl chrNW_004624786:9,997,089...10,003,553 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,512,569...10,514,504
Ensembl chrNW_004624786:10,512,587...10,514,213 		JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32499645 More... NCBI chrNW_004624738:28,355,161...28,472,733
Ensembl chrNW_004624738:28,355,121...28,472,733 		JBrowse link
G Vamp2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,723,791...10,727,654
Ensembl chrNW_004624786:10,724,964...10,727,649 		JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,283,721...10,296,568
Ensembl chrNW_004624786:10,283,984...10,296,729 		JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:7,270,601...7,286,431
Ensembl chrNW_004624786:7,269,986...7,286,640 		JBrowse link
G Ybx2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,909,464...9,915,335
Ensembl chrNW_004624786:9,909,761...9,915,280 		JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,067,503...10,085,500
Ensembl chrNW_004624786:10,066,801...10,085,482 		JBrowse link
common variable immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi2 abl interactor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,971,867...13,091,446
Ensembl chrNW_004624765:12,998,315...13,091,370 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:74,080...170,565 JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624782:14,519,283...14,654,514 JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,370,578...13,504,485
Ensembl chrNW_004624765:13,431,825...13,466,969 		JBrowse link
G Casp10 caspase 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624889:31,132...63,774 JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087 		JBrowse link
G Cd28 CD28 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,650,092...12,667,168 JBrowse link
G Cdk15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,550,267...14,641,749
Ensembl chrNW_004624765:14,555,207...14,641,545 		JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Fam117b family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,661,928...13,782,962
Ensembl chrNW_004624765:13,701,345...13,782,952 		JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:361,645...416,374
Ensembl chrNW_004624899:389,719...416,603 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,399,143...14,402,970 JBrowse link
G Ica1l islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,547,437...13,687,641
Ensembl chrNW_004624765:13,588,073...13,687,250 		JBrowse link
G Icos inducible T cell costimulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 OMIM
ClinVar		 PMID:9536098 PMID:11343122 PMID:11956294 PMID:12353035 PMID:12577056 More... NCBI chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861 		JBrowse link
G LOC101700295 cytochrome P450 20A1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,108,937...13,159,580
Ensembl chrNW_004624765:13,105,816...13,159,574 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:175,920...205,398 JBrowse link
G Nbeal1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,176,362...13,380,414
Ensembl chrNW_004624765:13,176,944...13,380,292 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624889:126,294...141,572
Ensembl chrNW_004624889:131,732...141,915 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 PMID:28492532 NCBI chrNW_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,139,815...14,172,413 JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:12,867,547...12,994,605
Ensembl chrNW_004624765:12,922,083...12,990,363 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:255,042...275,258
Ensembl chrNW_004624899:255,042...275,235 		JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593 		JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624899:275,291...335,555
Ensembl chrNW_004624899:300,096...332,392 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624765:13,504,347...13,532,418
Ensembl chrNW_004624765:13,504,533...13,531,200 		JBrowse link
common variable immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 More... NCBI chrNW_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624817:5,291,111...5,522,732
Ensembl chrNW_004624817:5,291,717...5,522,864 		JBrowse link
common variable immunodeficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21 interleukin 21 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 11 OMIM
ClinVar		 PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chrNW_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304 		JBrowse link
common variable immunodeficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 | ClinVar Annotator: match by term: NFKB1-related condition OMIM
ClinVar		 PMID:9383370 PMID:11583829 PMID:16199547 PMID:16639407 PMID:25741868 More... NCBI chrNW_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723 		JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chrNW_004624794:10,172,789...10,180,693
Ensembl chrNW_004624794:10,168,792...10,179,510 		JBrowse link
common variable immunodeficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 OMIM
ClinVar		 PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:27993330 More... NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841 		JBrowse link
common variable immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid4b AT-rich interaction domain 4B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,152,840...15,300,160
Ensembl chrNW_004624775:15,152,950...15,301,078 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:14,992,189...15,066,787
Ensembl chrNW_004624775:14,992,335...15,065,970 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,141,131...15,149,187 JBrowse link
G Gng4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:14,916,047...14,962,661
Ensembl chrNW_004624775:14,916,063...14,962,667 		JBrowse link
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 PMID:35538558 NCBI chrNW_004624775:15,479,808...15,484,855
Ensembl chrNW_004624775:15,482,630...15,484,824 		JBrowse link
G Kcnk1 potassium two pore domain channel subfamily K member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:16,494,054...16,538,089
Ensembl chrNW_004624775:16,493,949...16,538,025 		JBrowse link
G LOC101702099 cytochrome c oxidase assembly factor 6 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,942,940...15,945,964 JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:14,670,498...14,900,501
Ensembl chrNW_004624775:14,705,693...14,898,660 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:14,486,357...14,563,341
Ensembl chrNW_004624775:14,486,145...14,563,447 		JBrowse link
G Rbm34 RNA binding motif protein 34 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,293,143...15,325,344
Ensembl chrNW_004624775:15,304,205...15,325,344 		JBrowse link
G Slc35f3 solute carrier family 35 member F3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,998,318...16,330,835
Ensembl chrNW_004624775:15,996,602...16,084,601 		JBrowse link
G Tarbp1 TAR (HIV-1) RNA binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,874,543...15,939,275
Ensembl chrNW_004624775:15,874,551...15,939,272 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,067,044...15,132,690
Ensembl chrNW_004624775:15,067,044...15,133,008 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,331,214...15,355,206
Ensembl chrNW_004624775:15,331,047...15,355,206 		JBrowse link
Common Variable Immunodeficiency 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ruvbl1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 ClinVar PMID:28782633 NCBI chrNW_004624961:427,836...460,887 JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 OMIM
ClinVar		 PMID:25741868 PMID:28782633 NCBI chrNW_004624961:466,234...477,880
Ensembl chrNW_004624961:467,656...477,884 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Decreased circulating antibody concentration ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624751:624,569...647,198 JBrowse link
common variable immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a2 aldehyde dehydrogenase 3 family member A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,911,711...5,941,706
Ensembl chrNW_004624849:5,912,273...5,938,007 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,257,460...3,280,870
Ensembl chrNW_004624849:3,257,459...3,280,245 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,409,108...3,429,780
Ensembl chrNW_004624849:3,409,121...3,429,780 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,635,996...5,644,139
Ensembl chrNW_004624849:5,633,076...5,644,221 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:4,125,188...4,150,933
Ensembl chrNW_004624849:4,124,586...4,150,933 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624807:4,149,472...4,179,269
Ensembl chrNW_004624807:4,152,230...4,179,211 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,429,932...3,466,172
Ensembl chrNW_004624849:3,429,932...3,466,481 		JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,352,124...3,370,288
Ensembl chrNW_004624849:3,351,963...3,370,229 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,520,279...5,632,152
Ensembl chrNW_004624849:5,577,679...5,633,008 		JBrowse link
G Fam83g family with sequence similarity 83 member G ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,396,223...5,428,272
Ensembl chrNW_004624849:5,398,579...5,428,309 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:4,157,683...4,179,724 JBrowse link
G Flii FLII actin remodeling protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,213,988...3,227,734
Ensembl chrNW_004624849:3,214,042...3,227,476 		JBrowse link
G Gid4 GID complex subunit 4 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,385,312...3,408,842
Ensembl chrNW_004624849:3,386,101...3,408,924 		JBrowse link
G Grap GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,441,806...5,468,300
Ensembl chrNW_004624849:5,441,749...5,468,276 		JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,227,518...3,245,137
Ensembl chrNW_004624849:3,227,758...3,245,118 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,655,631...5,661,779
Ensembl chrNW_004624849:5,656,515...5,664,721 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,920,046...3,934,748
Ensembl chrNW_004624849:3,920,268...3,934,777 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,661,916...5,665,290
Ensembl chrNW_004624849:5,661,920...5,664,970 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,207,698...3,213,121
Ensembl chrNW_004624849:3,207,606...3,212,671 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:4,231,802...4,368,355
Ensembl chrNW_004624849:4,237,118...4,368,355 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,283,180...3,345,456
Ensembl chrNW_004624849:3,284,085...3,344,759 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:4,031,421...4,098,326
Ensembl chrNW_004624849:4,052,050...4,098,149 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,818,115...3,907,250
Ensembl chrNW_004624849:3,817,915...3,908,888 		JBrowse link
G Pld6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:4,202,398...4,245,217
Ensembl chrNW_004624849:4,224,986...4,227,755 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase associated protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,298,389...5,334,161
Ensembl chrNW_004624849:5,298,410...5,334,161 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,624,436...3,749,276
Ensembl chrNW_004624849:3,625,882...3,640,671 		JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,916,898...3,918,904
Ensembl chrNW_004624849:3,916,907...3,920,212 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,698,937...5,706,316
Ensembl chrNW_004624849:5,699,839...5,706,826 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,108,875...3,146,669
Ensembl chrNW_004624849:3,114,876...3,146,248 		JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,775,925...5,831,941
Ensembl chrNW_004624849:5,776,180...5,830,871 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,364,527...5,441,805
Ensembl chrNW_004624849:5,368,343...5,441,797 		JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,147,251...3,159,358
Ensembl chrNW_004624849:3,149,121...3,159,273 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,602,103...3,623,922
Ensembl chrNW_004624849:3,602,261...3,623,465 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 OMIM
ClinVar		 PMID:8072530 PMID:9536098 PMID:16007086 PMID:16007087 PMID:16199547 More... NCBI chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624752:6,797,453...6,799,437
Ensembl chrNW_004624752:6,797,983...6,799,097 		JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,466,572...3,594,397
Ensembl chrNW_004624849:3,466,520...3,594,738 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,159,432...3,196,235
Ensembl chrNW_004624849:3,159,810...3,194,860 		JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624877:3,536,540...3,631,960
Ensembl chrNW_004624877:3,516,159...3,631,561 		JBrowse link
common variable immunodeficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 3 OMIM
ClinVar		 PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 More... NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576 		JBrowse link
common variable immunodeficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P1PK blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,127,296...6,150,474
Ensembl chrNW_004624752:6,144,720...6,145,781 		JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,074,148...7,113,773
Ensembl chrNW_004624752:7,074,153...7,113,773 		JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,872,192...6,885,435
Ensembl chrNW_004624752:6,871,911...6,885,396 		JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,781,504...6,790,520
Ensembl chrNW_004624752:6,781,529...6,790,518 		JBrowse link
G Chadl chondroadherin like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:7,284,344...7,293,815
Ensembl chrNW_004624752:7,283,639...7,289,531 		JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,047,262...7,058,818
Ensembl chrNW_004624752:7,047,271...7,058,830 		JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,010,941...7,031,125
Ensembl chrNW_004624752:7,010,963...7,031,125 		JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:7,291,888...7,309,379
Ensembl chrNW_004624752:7,292,852...7,309,856 		JBrowse link
G LOC101718541 NADH-cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,182,156...6,198,395
Ensembl chrNW_004624752:6,182,129...6,198,400 		JBrowse link
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,885,606...6,958,109 JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,682,272...6,689,491
Ensembl chrNW_004624752:6,675,255...6,692,231 		JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,658,807...6,663,830
Ensembl chrNW_004624752:6,658,824...6,663,830 		JBrowse link
G Nfam1 NFAT activating protein with ITAM motif 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,298,251...6,356,562
Ensembl chrNW_004624752:6,324,181...6,357,066 		JBrowse link
G Pheta2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,665,433...6,675,776
Ensembl chrNW_004624752:6,669,159...6,673,747 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,114,239...7,123,706
Ensembl chrNW_004624752:7,114,274...7,123,706 		JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,039,781...7,047,069
Ensembl chrNW_004624752:7,039,789...7,047,069 		JBrowse link
G Poldip3 DNA polymerase delta interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,200,864...6,228,472
Ensembl chrNW_004624752:6,200,888...6,228,471 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,066,057...7,074,251
Ensembl chrNW_004624752:7,066,073...7,074,251 		JBrowse link
G Rangap1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,246,161...7,277,702
Ensembl chrNW_004624752:7,246,193...7,277,701 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:7,547,702...7,560,605
Ensembl chrNW_004624752:7,546,959...7,560,668 		JBrowse link
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,229,962...6,236,699
Ensembl chrNW_004624752:6,230,009...6,235,373 		JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,737,704...6,757,920 JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,808,295...6,813,039
Ensembl chrNW_004624752:6,808,295...6,813,216 		JBrowse link
G Smdt1 single-pass membrane protein with aspartate rich tail 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,665,433...6,668,956
Ensembl chrNW_004624752:6,665,433...6,669,045 		JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,972,557...6,985,033
Ensembl chrNW_004624752:6,972,618...6,985,033 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,815,075...6,871,674
Ensembl chrNW_004624752:6,816,468...6,871,567 		JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,446,414...6,537,238 JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,159,791...7,186,043
Ensembl chrNW_004624752:7,159,362...7,186,022 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19666484 PMID:21041452 PMID:25741868 More... NCBI chrNW_004624752:6,797,453...6,799,437
Ensembl chrNW_004624752:6,797,983...6,799,097 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,129,464...7,190,718
Ensembl chrNW_004624752:7,129,550...7,140,668 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,689,501...6,736,053
Ensembl chrNW_004624752:6,711,843...6,736,018 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:7,573,399...7,634,875
Ensembl chrNW_004624752:7,574,920...7,634,838 		JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,987,456...7,010,834
Ensembl chrNW_004624752:6,979,271...7,010,787 		JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,191,287...7,233,982
Ensembl chrNW_004624752:7,193,846...7,216,469 		JBrowse link
common variable immunodeficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd81 CD81 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 OMIM
ClinVar		 PMID:20237408 PMID:25741868 PMID:28492532 NCBI chrNW_004624767:15,192,446...15,210,923
Ensembl chrNW_004624767:15,192,452...15,210,922 		JBrowse link
common variable immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4bpb complement component 4 binding protein beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,407,008...4,416,313
Ensembl chrNW_004624807:4,406,766...4,415,248 		JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:3,936,043...3,958,274
Ensembl chrNW_004624807:3,936,028...3,957,249 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,040,639...4,074,631 JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,252,676...4,274,828 JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 More... NCBI chrNW_004624807:4,149,472...4,179,269
Ensembl chrNW_004624807:4,152,230...4,179,211 		JBrowse link
G CUNH1orf116 chromosome unknown C1orf116 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,462,329...4,474,382
Ensembl chrNW_004624807:4,462,447...4,474,792 		JBrowse link
G Fcamr Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,508,910...4,534,263 JBrowse link
G Fcmr Fc mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,567,240...4,581,406 JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,636,357...4,641,022
Ensembl chrNW_004624807:4,636,374...4,641,022 		JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,618,378...4,620,844
Ensembl chrNW_004624807:4,617,738...4,620,843 		JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,581,805...4,586,808
Ensembl chrNW_004624807:4,581,731...4,585,010 		JBrowse link
G Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,420,577...4,442,842
Ensembl chrNW_004624807:4,420,047...4,443,370 		JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,545,508...4,562,976
Ensembl chrNW_004624807:4,545,481...4,563,357 		JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:3,643,283...3,829,817
Ensembl chrNW_004624807:3,643,255...3,834,128 		JBrowse link
G Yod1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,443,653...4,448,759
Ensembl chrNW_004624807:4,443,650...4,446,373 		JBrowse link
common variable immunodeficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 More... NCBI chrNW_004624858:1,797,123...2,471,017
Ensembl chrNW_004624858:1,797,123...2,471,867 		JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:25640679 PMID:26206937 PMID:26768763 PMID:28492532 NCBI chrNW_004624858:2,074,510...2,077,282
Ensembl chrNW_004624858:2,075,456...2,076,535 		JBrowse link
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,732,068...10,837,678
Ensembl chrNW_004624808:10,738,181...10,851,641 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,320,388...10,464,081
Ensembl chrNW_004624808:10,319,793...10,465,514 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,652,817...10,658,434
Ensembl chrNW_004624808:10,652,776...10,658,498 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,924,606...10,984,422
Ensembl chrNW_004624808:10,924,248...10,965,164 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:9,950,331...9,960,019
Ensembl chrNW_004624808:9,951,202...9,953,971 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,634,919...10,648,734
Ensembl chrNW_004624808:10,634,597...10,648,892 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,887,555...10,921,217 JBrowse link
G Rbmx RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,176,695...10,185,847
Ensembl chrNW_004624808:10,176,293...10,182,079 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:11,107,125...11,157,913 JBrowse link
G Vgll1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,590,328...10,611,775 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia OMIM
ClinVar		 PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093 		JBrowse link
dextrocardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:26531781 NCBI chrNW_004624778:13,841,227...13,891,946
Ensembl chrNW_004624778:13,839,310...13,891,714 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:30532227 NCBI chrNW_004624926:615,991...636,167
Ensembl chrNW_004624926:617,303...636,080 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004624829:2,568,865...2,634,268
Ensembl chrNW_004624829:2,568,763...2,633,780 		JBrowse link
G Rock2 Rho associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004624865:4,461,200...4,591,309
Ensembl chrNW_004624865:4,461,215...4,588,836 		JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004624825:7,366,448...7,410,847
Ensembl chrNW_004624825:7,367,325...7,410,823 		JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004624743:1,339,650...1,383,883 JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093 		JBrowse link
diffuse large B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chrNW_004624738:11,094,699...12,010,349
Ensembl chrNW_004624738:11,095,134...11,288,891 		JBrowse link
G B2m beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7688627 NCBI chrNW_004624804:11,514,728...11,521,625 JBrowse link
G Bcas2 BCAS2 pre-mRNA processing factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chrNW_004624772:10,210,505...10,224,705
Ensembl chrNW_004624772:10,214,000...10,224,712 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Bcl6 BCL6 transcription repressor disease_progression ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 PMID:15701085 RGD:11530023 RGD:1600111 NCBI chrNW_004624730:69,145,035...69,167,583
Ensembl chrNW_004624730:69,154,080...69,167,689 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9150172 PMID:18489799 PMID:20104584 PMID:21138478 PMID:22798144 More... NCBI chrNW_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:24869598 PMID:25082755 PMID:25189416 PMID:25741868 PMID:27199251 More... NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Card11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons:multiple (human)		 CTD
RGD		 PMID:18323416 PMID:25049379 PMID:26192916 RGD:11100036 NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		JBrowse link
G Ccdc86 coiled-coil domain containing 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23828858 NCBI chrNW_004624926:259,458...263,362
Ensembl chrNW_004624926:259,372...263,577 		JBrowse link
G Cd22 CD22 molecule treatment ISO RGD PMID:25708834 RGD:151665133 NCBI chrNW_004624794:8,211,232...8,224,020
Ensembl chrNW_004624794:8,211,094...8,221,866 		JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897 		JBrowse link
G Cd79b CD79b molecule treatment
severity		 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma
DNA:missense mutation:multiple, exon 5 (human)		 RGD
ClinVar		 PMID:11160144 PMID:25708834 PMID:31402495 PMID:31609782 RGD:151665133 RGD:151665203 NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
G Cdk1 cyclin dependent kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chrNW_004624791:2,891,239...2,915,001 JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532 NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332 		JBrowse link
G Cltc clathrin heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chrNW_004624871:1,439,975...1,507,514
Ensembl chrNW_004624871:1,439,838...1,510,911 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:24755471 PMID:28481359 PMID:30239046 PMID:33323405 NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Dicer1 dicer 1, ribonuclease III disease_progression ISO RGD PMID:25195038 RGD:149735347 NCBI chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 More... NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:35053500 NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:20081860 PMID:28438623 RGD:126779596 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa disease_progression ISO DNA:SNP: :rs1801274 (human) RGD PMID:27282998 RGD:11344967 NCBI chrNW_004624826:23,930...34,735 JBrowse link
G Foxo1 forkhead box O1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:26314988 PMID:29721381 PMID:35079069 NCBI chrNW_004624748:1,413,754...1,529,646
Ensembl chrNW_004624748:1,413,983...1,529,992 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chrNW_004624802:10,483,279...10,494,539
Ensembl chrNW_004624802:10,483,219...10,498,609 		JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO proteion:increased expression:serum: RGD PMID:12598355 RGD:11354982 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chrNW_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650 		JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chrNW_004624739:18,264,690...19,194,634
Ensembl chrNW_004624739:18,323,816...19,194,466 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO RGD PMID:15701085 RGD:11530023 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804550 NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Malt1 MALT1 paracaspase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004624792:4,148,258...4,223,431
Ensembl chrNW_004624792:4,148,453...4,217,548 		JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:20919850 RGD:6483541 NCBI chrNW_004624737:18,935,686...18,963,907 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) RGD PMID:17712558 RGD:6893517 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor severity ISO DNA:missense mutation:L265P (human)
ClinVar Annotator: match by term: Diffuse large B cell lymphoma		 RGD
ClinVar		 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... RGD:151665203 NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9590180 PMID:16415040 PMID:28492532 NCBI chrNW_004624744:2,013,936...2,061,726
Ensembl chrNW_004624744:2,013,922...2,061,708 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chrNW_004624907:1,713,786...1,739,158
Ensembl chrNW_004624907:1,713,443...1,740,627 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:21390130 PMID:22158541 PMID:23292937 NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576 		JBrowse link
G Nfkbia NFKB inhibitor alpha no_association ISO SNA:polymorphism(s) RGD PMID:15198731 RGD:2298905 NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205 		JBrowse link
G Nom1 nucleolar protein with MIF4G domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chrNW_004624800:1,441,929...1,461,958
Ensembl chrNW_004624800:1,441,827...1,461,686 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004624824:279,893...383,220
Ensembl chrNW_004624824:293,374...383,156 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004624730:15,226,786...15,399,097
Ensembl chrNW_004624730:15,226,379...15,355,857 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chrNW_004624739:22,737,376...22,772,696
Ensembl chrNW_004624739:22,737,270...22,772,589 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar NCBI chrNW_004624740:31,315,121...31,345,137 JBrowse link
G Prdm1 PR/SET domain 1 disease_progression ISO RGD PMID:22321048 RGD:150530470 NCBI chrNW_004624780:16,205,056...16,227,382
Ensembl chrNW_004624780:16,204,838...16,227,390 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004624737:27,625,120...27,635,221 JBrowse link
G Prdx4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004624897:92,977...112,920
Ensembl chrNW_004624897:95,521...112,920 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31123343 NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:10468583 PMID:10555148 PMID:10698513 PMID:10866302 PMID:10866658 More... NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Rangap1 Ran GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27150054 NCBI chrNW_004624752:7,246,161...7,277,702
Ensembl chrNW_004624752:7,246,193...7,277,701 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chrNW_004624871:1,667,292...1,705,550
Ensembl chrNW_004624871:1,667,291...1,702,783 		JBrowse link
G Sec31a SEC31 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chrNW_004624757:8,040,894...8,122,785 JBrowse link
G Sf3a1 splicing factor 3a subunit 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:22037554 PMID:26498691 PMID:33563892 NCBI chrNW_004624747:6,654,656...6,679,525
Ensembl chrNW_004624747:6,655,037...6,679,640 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18850583 NCBI chrNW_004624759:18,796,055...18,858,692
Ensembl chrNW_004624759:18,830,323...18,858,712 		JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 ISO MouseDO NCBI chrNW_004624870:243,381...365,543
Ensembl chrNW_004624870:246,260...366,033 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:19734449 PMID:23296022 PMID:26336985 PMID:28302137 PMID:29625055 NCBI chrNW_004624824:8,444,877...8,446,628 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Sod3 superoxide dismutase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004624755:7,535,044...7,541,298
Ensembl chrNW_004624755:7,535,044...7,541,221 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:21690253 PMID:22591296 PMID:22859607 PMID:23926297 PMID:25873174 More... NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Syk spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33782605 NCBI chrNW_004624868:1,654,079...1,738,648
Ensembl chrNW_004624868:1,653,997...1,701,391 		JBrowse link
G Tbl1xr1 TBL1X/Y related 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9450851 PMID:16492805 PMID:21156281 PMID:21156282 PMID:25741868 More... NCBI chrNW_004624730:54,835,624...55,013,474
Ensembl chrNW_004624730:54,835,624...54,884,835 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Txnip thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chrNW_004624772:17,341,918...17,345,964
Ensembl chrNW_004624772:17,341,630...17,345,960 		JBrowse link
DiGeorge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO OMIM:188400 RGD
MouseDO		 PMID:12563036 RGD:734550 NCBI chrNW_004624781:13,756,469...13,845,253
Ensembl chrNW_004624781:13,756,390...13,845,479 		JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131 		JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,183,749...1,190,645 JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chrNW_004624747:756,298...759,056 JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553 		JBrowse link
G Chrd chordin ISO OMIM:188400 MouseDO NCBI chrNW_004624730:72,201,239...72,209,843
Ensembl chrNW_004624730:72,201,644...72,209,843 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168 		JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341 		JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:905,239...910,562 JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266 		JBrowse link
G Dicer1 dicer 1, ribonuclease III ISO OMIM:188400 MouseDO NCBI chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO OMIM:188400 MouseDO NCBI chrNW_004624737:19,575,012...20,105,406
Ensembl chrNW_004624737:19,574,948...20,105,265 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism
OMIM:188400		 CTD
MouseDO		 PMID:16399080 NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741 		JBrowse link
G Foxn1 forkhead box N1 ISO OMIM:188400 MouseDO NCBI chrNW_004624786:1,114,305...1,127,787
Ensembl chrNW_004624786:1,114,305...1,127,683 		JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:9,425,720...9,479,571
Ensembl chrNW_004624747:9,425,775...9,480,162 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,065,864...1,096,164
Ensembl chrNW_004624747:1,067,927...1,092,757 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chrNW_004624747:12,717,713...12,746,040
Ensembl chrNW_004624747:12,717,707...12,746,724 		JBrowse link
G Hoxa3 homeobox A3 ISO OMIM:188400 MouseDO NCBI chrNW_004624739:3,453,358...3,498,061
Ensembl chrNW_004624739:3,478,406...3,498,333 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO OMIM:188400 RGD
MouseDO		 PMID:22921202 RGD:9590333 NCBI chrNW_004624780:1,237,326...1,378,718
Ensembl chrNW_004624780:1,240,292...1,376,072 		JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975 		JBrowse link
G LOC101713307 protein HIRA ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:9...95,643 JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:488,396...562,084 JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624735:9,332,637...9,545,164
Ensembl chrNW_004624735:9,332,682...9,545,157 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:188400 MouseDO NCBI chrNW_004624774:9,758,459...9,821,309
Ensembl chrNW_004624774:9,758,809...9,821,309 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624735:9,248,065...9,262,975
Ensembl chrNW_004624735:9,251,046...9,263,199 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684 		JBrowse link
G Plxnd1 plexin D1 ISO OMIM:188400 MouseDO NCBI chrNW_004624872:542,776...571,019
Ensembl chrNW_004624872:543,553...571,019 		JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,221,703...1,248,398
Ensembl chrNW_004624747:1,221,631...1,248,391 		JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,417,004...1,446,211
Ensembl chrNW_004624747:1,420,835...1,446,143 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:9,504,525...9,521,315
Ensembl chrNW_004624747:9,506,138...9,519,176 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043 		JBrowse link
G Rimbp3c RIMS binding protein 3C ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,110,596...1,115,995 JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:9,416,411...9,504,561
Ensembl chrNW_004624747:9,416,373...9,502,716 		JBrowse link
G Rtl10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:484,995...486,791 JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991 		JBrowse link
G Scarf2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958 		JBrowse link
G Sdf2l1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,195,043...1,197,105
Ensembl chrNW_004624747:1,195,055...1,197,105 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667 		JBrowse link
G Slc7a4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624747:9,687,369...9,837,344
Ensembl chrNW_004624747:9,705,081...9,837,535 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:647,571...686,870 JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome		 OMIM
ClinVar		 PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 More... NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO OMIM:188400 MouseDO NCBI chrNW_004624788:8,447,679...8,535,821
Ensembl chrNW_004624788:8,447,542...8,535,959 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480 		JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,450,236...1,473,467
Ensembl chrNW_004624747:1,446,412...1,473,600 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:25197075 RGD:155641238 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947 		JBrowse link
G Tuba8 tubulin alpha 8 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624735:9,211,458...9,229,909
Ensembl chrNW_004624735:9,211,152...9,230,303 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		JBrowse link
G Ube2l3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,125,009...1,178,595
Ensembl chrNW_004624747:1,125,022...1,177,524 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624735:9,158,597...9,187,503 JBrowse link
G Vegfa vascular endothelial growth factor A ISO OMIM:188400 MouseDO NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,181,617...1,183,581
Ensembl chrNW_004624747:1,181,956...1,183,485 		JBrowse link
G Ypel1 yippee like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,248,026...1,274,909
Ensembl chrNW_004624747:1,248,026...1,274,869 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989 		JBrowse link
G Znf280a zinc finger protein 280A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:8,841,993...8,848,484 JBrowse link
G Znf280b zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:8,816,707...8,835,136
Ensembl chrNW_004624747:8,819,889...8,821,529 		JBrowse link
G Znf366 zinc finger protein 366 ISO OMIM:188400 MouseDO NCBI chrNW_004624905:1,523,205...1,590,722
Ensembl chrNW_004624905:1,526,693...1,544,301 		JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:356,794...367,202 JBrowse link
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nebl nebulette ISO ClinVar Annotator: match by term: DiGeorge syndrome/velocardiofacial syndrome complex 2 ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chrNW_004624796:7,133,915...7,498,706
Ensembl chrNW_004624796:7,133,923...7,493,673 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chrNW_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... NCBI chrNW_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379 		JBrowse link
Enteropathy-Associated T-Cell Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO DNA:mutations:multiple (human) RGD PMID:27600764 RGD:150429643 NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200 		JBrowse link
extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10 immune signaling adaptor ISO ClinVar Annotator: match by term: MALT lymphoma OMIM
ClinVar		 PMID:9989495 PMID:10380920 PMID:10408400 NCBI chrNW_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759 		JBrowse link
G Birc3 baculoviral IAP repeat containing 3 treatment ISO DNA:gene fusion: (human) RGD PMID:21465313 RGD:153305955 NCBI chrNW_004624878:516,750...541,475
Ensembl chrNW_004624878:523,300...536,062 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO protein:increased expression: mucosa-associated lymphoid tissue (human) RGD PMID:27544389 RGD:152023632 NCBI chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528 		JBrowse link
Familial Hemophagocytic Lymphohistiocytoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC ClinVar PMID:18179888 PMID:19377476 PMID:19687455 PMID:19716112 PMID:22523091 More... NCBI chrNW_004624808:10,924,606...10,984,422
Ensembl chrNW_004624808:10,924,248...10,965,164 		JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis ClinVar PMID:1156555 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 More... NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627 		JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:20486178 PMID:24033266 PMID:24459464 PMID:25741868 PMID:26004995 More... NCBI chrNW_004624753:10,150,811...10,180,794
Ensembl chrNW_004624753:10,148,416...10,191,153 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19804848 PMID:19884660 More... NCBI chrNW_004624828:718,728...725,063
Ensembl chrNW_004624828:718,485...725,483 		JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:9536098 PMID:14622600 PMID:16778144 PMID:16825436 PMID:17576681 More... NCBI chrNW_004624801:5,720,998...5,736,122
Ensembl chrNW_004624801:5,721,391...5,736,294 		JBrowse link
familial hemophagocytic lymphohistiocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chrNW_004624754:4,523,616...4,553,994
Ensembl chrNW_004624754:4,523,661...4,549,936 		JBrowse link
G Il1rl1 interleukin 1 receptor like 1 treatment ISO associated with lymphocytic choriomeningitis
associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver:		 RGD PMID:26518437 RGD:11343232 NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701 		JBrowse link
G Il33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864 		JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chrNW_004624754:4,557,407...4,564,580
Ensembl chrNW_004624754:4,557,952...4,564,644 		JBrowse link
G Pald1 phosphatase domain containing paladin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chrNW_004624754:4,591,504...4,661,195
Ensembl chrNW_004624754:4,605,913...4,661,299 		JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to OMIM
ClinVar		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627 		JBrowse link
familial hemophagocytic lymphohistiocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc13d unc-13 homolog D susceptibility ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 | ClinVar Annotator: match by term: UNC13D-related condition
DNA:deletions, insertion, snps:exons, intron:multiple (human)		 OMIM
ClinVar
RGD		 PMID:2978935 PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 More... RGD:1600451 NCBI chrNW_004624801:5,720,998...5,736,122
Ensembl chrNW_004624801:5,721,391...5,736,294 		JBrowse link
familial hemophagocytic lymphohistiocytosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fuca2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,767,093...10,782,963
Ensembl chrNW_004624753:10,767,162...10,783,669 		JBrowse link
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,428,383...10,444,913 JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,787,513...10,826,099
Ensembl chrNW_004624753:10,786,599...10,826,255 		JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,456,910...10,742,311 JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,292,050...10,359,424
Ensembl chrNW_004624753:10,292,038...10,359,480 		JBrowse link
G Sf3b5 splicing factor 3b subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,227,419...10,228,106
Ensembl chrNW_004624753:10,227,560...10,227,820 		JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 OMIM
ClinVar		 PMID:15703195 PMID:16582076 PMID:17525286 PMID:19967551 PMID:20486178 More... NCBI chrNW_004624753:10,150,811...10,180,794
Ensembl chrNW_004624753:10,148,416...10,191,153 		JBrowse link
G Zc2hc1b zinc finger C2HC-type containing 1B ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004624753:10,363,904...10,428,199
Ensembl chrNW_004624753:10,364,724...10,419,837 		JBrowse link
familial hemophagocytic lymphohistiocytosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camsap3 calmodulin regulated spectrin associated protein family member 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:689,010...703,496
Ensembl chrNW_004624828:688,564...704,174 		JBrowse link
G Ccl25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:975,656...981,610 JBrowse link
G Cd320 CD320 molecule ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:1,102,016...1,106,314
Ensembl chrNW_004624828:1,102,306...1,106,211 		JBrowse link
G Cers4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:1,074,920...1,092,607
Ensembl chrNW_004624828:1,074,942...1,092,647 		JBrowse link
G Clec4g C-type lectin domain family 4 member G ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:775,114...778,526
Ensembl chrNW_004624828:773,569...778,615 		JBrowse link
G Ctxn1 cortexin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:887,006...888,524
Ensembl chrNW_004624828:887,005...888,430 		JBrowse link
G Elavl1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:913,001...948,826
Ensembl chrNW_004624828:914,141...948,831 		JBrowse link
G Evi5l ecotropic viral integration site 5 like ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:821,719...847,953
Ensembl chrNW_004624828:828,381...847,975 		JBrowse link
G Fbn3 fibrillin 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:982,424...1,043,157 JBrowse link
G Fcer2 Fc fragment of IgE receptor II ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:747,800...754,185
Ensembl chrNW_004624828:748,671...754,185 		JBrowse link
G Lrrc8e leucine rich repeat containing 8 VRAC subunit E ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:859,419...868,595
Ensembl chrNW_004624828:860,744...868,595 		JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:869,424...878,358
Ensembl chrNW_004624828:869,425...878,231 		JBrowse link
G Mcemp1 mast cell expressed membrane protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:740,146...742,922 JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:634,318...643,406
Ensembl chrNW_004624828:634,214...643,633 		JBrowse link
G Pcp2 Purkinje cell protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:19804848 PMID:22451424 PMID:28492532 NCBI chrNW_004624828:713,796...719,287
Ensembl chrNW_004624828:713,799...715,442 		JBrowse link
G Pet100 PET100 homolog ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:19804848 PMID:22451424 PMID:28492532 NCBI chrNW_004624828:712,087...713,801
Ensembl chrNW_004624828:712,171...713,801 		JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:643,552...664,665
Ensembl chrNW_004624828:643,471...664,665 		JBrowse link
G Retn resistin ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:735,562...737,166
Ensembl chrNW_004624828:735,503...737,166 		JBrowse link
G Snapc2 small nuclear RNA activating complex polypeptide 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:882,370...885,866
Ensembl chrNW_004624828:883,194...885,408 		JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:15703195 NCBI chrNW_004624753:10,150,811...10,180,794
Ensembl chrNW_004624753:10,148,416...10,191,153 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 | ClinVar Annotator: match by term: STXBP2-related condition OMIM
ClinVar		 PMID:9536098 PMID:10788461 PMID:16199547 PMID:17576681 PMID:19804848 More... NCBI chrNW_004624828:718,728...725,063
Ensembl chrNW_004624828:718,485...725,483 		JBrowse link
G Tgfbr3l transforming growth factor beta receptor 3 like ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:878,551...882,179
Ensembl chrNW_004624828:878,741...881,510 		JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:888,999...903,496
Ensembl chrNW_004624828:888,606...902,927 		JBrowse link
G Trappc5 trafficking protein particle complex subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:743,324...744,990
Ensembl chrNW_004624828:743,350...744,986 		JBrowse link
G Xab2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chrNW_004624828:704,400...711,963
Ensembl chrNW_004624828:704,300...712,251 		JBrowse link
Familial Hemophagocytic Lymphohistiocytosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004624771:7,837,547...7,948,217 JBrowse link
filariasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rl1 interleukin 1 receptor like 1 ISO RGD PMID:27592711 RGD:40400889 NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701 		JBrowse link
follicular dendritic cell sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma ClinVar PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 More... NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
follicular lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chrNW_004624946:885,400...902,082
Ensembl chrNW_004624946:884,685...902,365 		JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chrNW_004624758:15,910,189...15,933,975
Ensembl chrNW_004624758:15,910,132...15,935,160 		JBrowse link
G Bcl10 BCL10 immune signaling adaptor ISO ClinVar Annotator: match by term: Follicular lymphoma ClinVar PMID:9989495 NCBI chrNW_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759 		JBrowse link
G Bcl2 BCL2 apoptosis regulator susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:translocation: ;t(14;18)(q32;q21)		 RGD
CTD		 PMID:3287162 PMID:12855623 PMID:16671111 RGD:1599473 RGD:734639 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cd40lg CD40 ligand ISO human gene in a mouse model RGD PMID:25582824 RGD:11344981 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cd79b CD79b molecule treatment ISO human cells in mouse model RGD PMID:17374736 RGD:151665154 NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Ebf1 EBF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chrNW_004624733:30,327,541...30,735,432
Ensembl chrNW_004624733:30,333,504...30,733,267 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Irf4 interferon regulatory factor 4 severity ISO RGD PMID:17296585 RGD:11530032 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:8417785 PMID:25526675 RGD:1598985 NCBI chrNW_004624792:9,038,076...9,081,650
Ensembl chrNW_004624792:9,040,999...9,082,154 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
G Rarres1 retinoic acid receptor responder 1 ISO OMIM:151430 MouseDO NCBI chrNW_004624730:36,404,953...36,434,723
Ensembl chrNW_004624730:36,405,270...36,434,630 		JBrowse link
G Rragc Ras related GTP binding C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chrNW_004624764:21,460,669...21,475,470
Ensembl chrNW_004624764:21,460,666...21,475,439 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600 		JBrowse link
gastrointestinal lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D disease_progression ISO RGD PMID:26722499 RGD:11553660 NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
Granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cma1 chymase 1 ISO mRNA:increased expression:tumor (rat) RGD PMID:15723097 RGD:5128499 NCBI chrNW_004624820:8,021,965...8,024,763
Ensembl chrNW_004624820:8,021,959...8,024,851 		JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:24372369 RGD:10402806 NCBI chrNW_004624733:39,412,800...39,420,079 JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with Kidney Diseases RGD PMID:11126199 RGD:1642009 NCBI chrNW_004624747:10,307,826...10,308,649
Ensembl chrNW_004624747:10,303,919...10,308,821 		JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 ISO RGD PMID:20679225 RGD:5508736 NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103 		JBrowse link
Granuloma, Plasma Cell term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20979472 PMID:21030459 PMID:22920921 NCBI chrNW_004624738:11,094,699...12,010,349
Ensembl chrNW_004624738:11,095,134...11,288,891 		JBrowse link
G LOC101698338 E3 SUMO-protein ligase RanBP2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21030459 NCBI chrNW_004624749:11,862,670...11,923,291
Ensembl chrNW_004624749:11,862,760...11,923,958 		JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chrNW_004624731:6,315,064...6,355,431
Ensembl chrNW_004624731:6,319,092...6,355,534 		JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: Griscelli syndrome, cutaneous and neurologic type OMIM
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chrNW_004624731:8,114,557...8,280,586
Ensembl chrNW_004624731:8,113,715...8,280,823 		JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004624731:6,260,560...6,286,432
Ensembl chrNW_004624731:6,257,130...6,288,880 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004624731:6,215,798...6,270,210
Ensembl chrNW_004624731:6,215,737...6,241,793 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004624853:138,153...139,077 JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chrNW_004624731:6,286,406...6,306,070
Ensembl chrNW_004624731:6,283,848...6,305,855 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome OMIM
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chrNW_004624731:6,315,064...6,355,431
Ensembl chrNW_004624731:6,319,092...6,355,534 		JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: Hypomelanosis with no immunologic or neurologic manifestations OMIM
ClinVar		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chrNW_004624847:2,919,391...2,958,459
Ensembl chrNW_004624847:2,919,404...2,958,554 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chrNW_004624731:8,114,557...8,280,586
Ensembl chrNW_004624731:8,113,715...8,280,823 		JBrowse link
hairy cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8843970 RGD:11353776 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO RGD PMID:9613675 RGD:11522762 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24241536 NCBI chrNW_004624781:6,222,365...6,285,398
Ensembl chrNW_004624781:6,222,365...6,285,531 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522 		JBrowse link
hemophagocytic lymphohistiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 molecule ISO protein:increased expression:blood serum (human) RGD PMID:15613100 RGD:127285796 NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349 		JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO MouseDO NCBI chrNW_004624758:2,575,516...2,646,313
Ensembl chrNW_004624758:2,575,671...2,646,313 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374066 NCBI chrNW_004624733:32,521,318...32,527,499 JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:26914138 RGD:11529541 NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474 		JBrowse link
G Il18 interleukin 18 ISO associated with Epstein-Barr Virus Infections;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Prf1 perforin 1 ISO associated with Lymphocytic Choriomeningitis RGD PMID:20049711 RGD:6482810 NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO MouseDO NCBI chrNW_004624731:6,315,064...6,355,431
Ensembl chrNW_004624731:6,319,092...6,355,534 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 More... NCBI chrNW_004624792:4,863,978...5,146,907
Ensembl chrNW_004624792:4,867,858...5,146,839 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 More... NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts3 ADAM metallopeptidase with thrombospondin type 1 motif 3 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763 NCBI chrNW_004624890:3,738,727...3,925,377
Ensembl chrNW_004624890:3,738,186...3,925,491 		JBrowse link
Hennekam syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED ClinVar PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 PMID:28985353 More... NCBI chrNW_004624792:4,863,978...5,146,907
Ensembl chrNW_004624792:4,867,858...5,146,839 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980 		JBrowse link
hepatosplenic schistosomiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt18 keratin 18 disease_progression ISO protein:increased expression:serum (mouse, human) RGD PMID:21357724 RGD:21406434 NCBI chrNW_004624904:1,011,675...1,015,319
Ensembl chrNW_004624904:1,011,755...1,015,416 		JBrowse link
G Serpinf1 serpin family F member 1 ISO RGD PMID:9038736 RGD:30296660 NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585 		JBrowse link
hereditary lymphedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Primary congenital lymphedema ClinVar PMID:16965327 PMID:25741868 NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674 		JBrowse link
G Vegfc vascular endothelial growth factor C ISO OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 MouseDO NCBI chrNW_004624769:7,689,812...7,817,366
Ensembl chrNW_004624769:7,689,407...7,817,450 		JBrowse link
hereditary lymphedema I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892 NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777 		JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 More... NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674 		JBrowse link
hereditary lymphedema IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892 NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777 		JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I OMIM
ClinVar		 PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 More... NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674 		JBrowse link
G Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Edema of the dorsum of feet ClinVar PMID:25741868 NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313 		JBrowse link
hereditary lymphedema IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Lymphedema, hereditary, IC OMIM
ClinVar		 PMID:20537300 PMID:21266381 PMID:25741868 PMID:28492532 PMID:29451896 More... NCBI chrNW_004624937:898,876...905,247 JBrowse link
hereditary lymphedema ID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vegfc vascular endothelial growth factor C ISO ClinVar Annotator: match by term: Lymphedema, hereditary, ID OMIM
ClinVar		 PMID:23410910 PMID:24744435 PMID:25741868 PMID:30071673 NCBI chrNW_004624769:7,689,812...7,817,366
Ensembl chrNW_004624769:7,689,407...7,817,450 		JBrowse link
histiocytic sarcoma 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: Histiocytic medullary reticulosis ClinVar PMID:9536098 PMID:11336668 PMID:12055248 PMID:12569164 PMID:12727634 More... NCBI chrNW_004624805:555,444...593,548
Ensembl chrNW_004624805:555,545...592,250 		JBrowse link
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:25741868 NCBI chrNW_004624767:10,604,914...10,678,207
Ensembl chrNW_004624767:10,604,254...10,678,224 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532 NCBI chrNW_004624759:19,067,933...19,103,007
Ensembl chrNW_004624759:19,067,856...19,098,859 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 More... NCBI chrNW_004624767:10,694,867...10,698,041
Ensembl chrNW_004624767:10,694,867...10,698,001 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 More... NCBI chrNW_004624767:10,678,547...10,680,130
Ensembl chrNW_004624767:10,678,359...10,680,132 		JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:25741868 NCBI chrNW_004624805:594,986...619,115
Ensembl chrNW_004624805:597,406...618,969 		JBrowse link
histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238637 NCBI chrNW_004624754:5,296,083...5,330,445
Ensembl chrNW_004624754:5,296,173...5,329,778 		JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome OMIM
ClinVar		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chrNW_004624754:5,296,083...5,330,445
Ensembl chrNW_004624754:5,296,173...5,329,778 		JBrowse link
Hodgkin's lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7621881 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:7621881 PMID:8656679 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cd68 CD68 molecule severity ISO associated with Epstein-Barr Virus Infections;protein:increased expression:tumor(human)
protein:increased expression:tumor (human)		 RGD PMID:21071500 PMID:23045593 RGD:40925944 RGD:40925946 NCBI chrNW_004624786:10,195,337...10,197,963 JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659339 NCBI chrNW_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17562247 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Classic Hodgkin lymphoma ClinVar PMID:28492532 PMID:32934698 NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Classic Hodgkin lymphoma ClinVar PMID:25741868 PMID:32934698 NCBI chrNW_004624733:12,964,893...12,979,198
Ensembl chrNW_004624733:12,964,746...12,976,732 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037568 NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:		 CTD
RGD		 PMID:7621881 PMID:7686390 PMID:8656679 RGD:11520780 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:21466366 RGD:11049168 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il6 interleukin 6 treatment ISO DNA:SNPs: :multiple RGD PMID:19573080 PMID:21466366 RGD:11049165 RGD:11049168 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chrNW_004624862:1,537,886...1,540,633
Ensembl chrNW_004624862:1,538,455...1,539,426 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chrNW_004624901:402,969...404,741
Ensembl chrNW_004624901:403,235...404,269 		JBrowse link
G Klhdc8b kelch domain containing 8B susceptibility ISO ClinVar Annotator: match by term: Classic Hodgkin lymphoma OMIM
ClinVar		 PMID:19706467 NCBI chrNW_004624730:3,182,881...3,187,714
Ensembl chrNW_004624730:3,182,827...3,187,714 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Classic Hodgkin lymphoma ClinVar PMID:16361624 PMID:16618717 PMID:18316791 PMID:19114683 PMID:19679400 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7545087 NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Classic Hodgkin lymphoma ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 More... NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995 		JBrowse link
G Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24688052 NCBI chrNW_004624749:29,264,577...29,276,769 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Classic Hodgkin lymphoma ClinVar PMID:25741868 PMID:32934698 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:C-terminally truncated protein		 CTD
RGD		 PMID:10340377 PMID:10556199 PMID:19223558 RGD:2298893 RGD:2298894 NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:lymphoid tissue (human) RGD PMID:26044287 RGD:11060455 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Ptpn1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chrNW_004624790:5,070,537...5,135,243
Ensembl chrNW_004624790:5,073,476...5,135,181 		JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037568 NCBI chrNW_004624833:1,016,330...1,053,514
Ensembl chrNW_004624833:1,022,656...1,053,342 		JBrowse link
G Sdc1 syndecan 1 ISO protein:altered expression:tumor (human) RGD PMID:9746758 RGD:9743928 NCBI chrNW_004624738:2,920,154...2,938,035 JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7621881 PMID:8701986 PMID:10908157 PMID:12358914 PMID:12453859 More... NCBI chrNW_004624818:957,597...996,565 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7621881 PMID:8656679 PMID:8701986 PMID:8896393 PMID:9058727 More... NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522 		JBrowse link
hypersplenism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15877736 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
hypotrichosis-lymphedema-telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome OMIM
ClinVar		 PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450 PMID:28492532 More... NCBI chrNW_004624741:29,679,274...29,681,069
Ensembl chrNW_004624741:29,679,091...29,681,049 		JBrowse link
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM
ClinVar		 PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624741:29,679,274...29,681,069
Ensembl chrNW_004624741:29,679,091...29,681,049 		JBrowse link
Immunoblastic Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 PMID:24584070 NCBI chrNW_004624730:3,316,122...3,361,820 JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		JBrowse link
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oas1 2'-5'-oligoadenylate synthetase 1 ISO ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM
ClinVar		 PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 More... NCBI chrNW_004624747:19,428,994...19,434,512
Ensembl chrNW_004624747:19,428,833...19,434,550 		JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chrNW_004624784:14,427,297...14,439,027
Ensembl chrNW_004624784:14,427,130...14,439,038 		JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: AGMX2 | ClinVar Annotator: match by term: Immunodeficiency 61 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29636373 NCBI chrNW_004624829:4,329,959...4,714,329
Ensembl chrNW_004624829:4,329,824...4,714,298 		JBrowse link
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies ClinVar
OMIM		 PMID:19020503 PMID:25741868 PMID:33517393 NCBI chrNW_004624759:3,258,324...3,315,265
Ensembl chrNW_004624759:3,276,741...3,312,601 		JBrowse link
infectious mononucleosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO protein:increased expression:monocyte, neutrophil, serum: RGD PMID:11185989 RGD:11049152 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Faslg Fas ligand ISO protein:increased expression:lymphocyte, serum: RGD PMID:11185989 RGD:11049152 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825 		JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO RGD PMID:23628056 RGD:38501103 NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679 		JBrowse link
G Il27 interleukin 27 ISO protein:increased expression:blood serum (human) RGD PMID:33571934 RGD:126790542 NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:7964476 RGD:11035288 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armcx1 armadillo repeat containing X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,042,766...1,053,131 JBrowse link
G Armcx2 armadillo repeat containing X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:861,362...865,926
Ensembl chrNW_004624902:863,592...865,532 		JBrowse link
G Armcx3 armadillo repeat containing X-linked 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:957,669...962,015
Ensembl chrNW_004624902:957,669...962,039 		JBrowse link
G Armcx4 armadillo repeat containing X-linked 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,075,902...1,085,596
Ensembl chrNW_004624902:1,074,925...1,084,909 		JBrowse link
G Armcx6 armadillo repeat containing X-linked 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:966,797...969,992 JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency OMIM
ClinVar		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 More... NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,391,144...1,500,323
Ensembl chrNW_004624814:8,820,811...8,823,072 		JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,755,308...1,780,826 JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,270,925...1,313,122
Ensembl chrNW_004624902:1,270,959...1,313,097 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chrNW_004624902:1,163,360...1,173,087
Ensembl chrNW_004624902:1,163,611...1,173,177 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chrNW_004624902:1,157,747...1,163,435
Ensembl chrNW_004624902:1,157,752...1,163,281 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,741,921...1,754,932
Ensembl chrNW_004624902:1,736,704...1,755,504 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:2,354,109...2,502,478
Ensembl chrNW_004624902:2,354,856...2,502,527 		JBrowse link
G Srpx2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,944,073...1,967,106
Ensembl chrNW_004624902:1,944,019...1,964,983 		JBrowse link
G Sytl4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,876,608...1,945,728
Ensembl chrNW_004624902:1,876,516...1,942,265 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,239,776...1,267,443
Ensembl chrNW_004624902:1,243,817...1,256,209 		JBrowse link
G Timm8a translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chrNW_004624902:1,216,991...1,223,426 JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,501,186...1,513,036
Ensembl chrNW_004624902:1,500,874...1,513,127 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:2,019,649...2,038,203
Ensembl chrNW_004624902:2,019,185...2,038,311 		JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,977,700...1,985,004
Ensembl chrNW_004624902:1,978,467...1,986,303 		JBrowse link
G Xkrx XK related X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,677,588...1,694,988
Ensembl chrNW_004624902:1,678,615...1,696,820 		JBrowse link
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfatc2 nuclear factor of activated T cells 2 ISO OMIM NCBI chrNW_004624790:4,366,440...4,484,279
Ensembl chrNW_004624790:4,366,406...4,484,432 		JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO MouseDO NCBI chrNW_004624747:5,703,647...5,755,344
Ensembl chrNW_004624747:5,704,477...5,755,321 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO MouseDO NCBI chrNW_004624730:58,436,427...58,471,926
Ensembl chrNW_004624730:58,436,469...58,471,799 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 More... NCBI chrNW_004624801:9,160,852...9,217,033
Ensembl chrNW_004624801:9,160,805...9,217,756 		JBrowse link
G CUNH1orf127 chromosome unknown C1orf127 homolog ISO MouseDO NCBI chrNW_004624818:1,799,997...1,826,300
Ensembl chrNW_004624818:1,809,875...1,826,350 		JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISO MouseDO NCBI chrNW_004624843:2,058,443...2,105,646
Ensembl chrNW_004624843:2,058,330...2,108,045 		JBrowse link
G Dnaaf1 dynein axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 PMID:28492532 NCBI chrNW_004624746:3,412,888...3,441,710 JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532 NCBI chrNW_004624735:23,269,253...23,355,832
Ensembl chrNW_004624735:23,269,414...23,355,968 		JBrowse link
G Dnaaf19 dynein axonemal assembly factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581229 NCBI chrNW_004624795:404,102...407,025
Ensembl chrNW_004624795:404,068...406,979 		JBrowse link
G Dnaaf2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chrNW_004624731:19,069,162...19,077,501
Ensembl chrNW_004624731:19,069,203...19,077,505 		JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO CTD Direct Evidence: marker/mechanism MouseDO
CTD		 PMID:22387996 NCBI chrNW_004624832:2,081,239...2,087,833
Ensembl chrNW_004624832:2,082,494...2,087,537 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chrNW_004624731:6,215,798...6,270,210
Ensembl chrNW_004624731:6,215,737...6,241,793 		JBrowse link
G Dnah1 dynein axonemal heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 PMID:28492532 PMID:32719396 NCBI chrNW_004624822:4,818,972...4,882,076
Ensembl chrNW_004624822:4,819,019...4,878,438 		JBrowse link
G Dnah11 dynein axonemal heavy chain 11 susceptibility ISO DNA:nonsense mutation, missense mutation:R2852X, R3004Q RGD
MouseDO		 PMID:12142464 RGD:734893 NCBI chrNW_004624739:8,810,127...9,136,044
Ensembl chrNW_004624739:8,811,082...9,135,815 		JBrowse link
G Dnah5 dynein axonemal heavy chain 5 susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome		 RGD
ClinVar		 PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chrNW_004624751:10,799,102...11,110,180
Ensembl chrNW_004624751:10,799,892...11,050,403 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 susceptibility ISO DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome		 RGD
ClinVar		 PMID:9536098 PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 More... RGD:1601083 NCBI chrNW_004624736:38,858,918...38,922,092
Ensembl chrNW_004624736:38,859,050...38,922,097 		JBrowse link
G Dnai2 dynein axonemal intermediate chain 2 ISO MouseDO NCBI chrNW_004624801:4,252,779...4,284,432
Ensembl chrNW_004624801:4,252,814...4,280,227 		JBrowse link
G Dnal1 dynein axonemal light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chrNW_004624734:27,844,412...27,885,770
Ensembl chrNW_004624734:27,854,031...27,885,696 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25741868 NCBI chrNW_004624738:8,540,863...8,599,386
Ensembl chrNW_004624738:8,541,063...8,599,491 		JBrowse link
G Foxj1 forkhead box J1 ISO MouseDO NCBI chrNW_004624801:6,025,756...6,030,487
Ensembl chrNW_004624801:6,025,793...6,030,486 		JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More... NCBI chrNW_004624832:5,439,764...5,460,822 JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chrNW_004624805:6,192,843...6,365,982
Ensembl chrNW_004624805:6,193,217...6,362,776 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532 NCBI chrNW_004624828:3,207,935...3,218,795
Ensembl chrNW_004624828:3,208,153...3,218,637 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chrNW_004624763:7,068,000...7,071,752
Ensembl chrNW_004624763:7,068,012...7,071,799 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More... NCBI chrNW_004624745:28,009,028...28,020,007
Ensembl chrNW_004624745:28,008,959...28,021,529 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chrNW_004624798:13,022,429...13,046,836
Ensembl chrNW_004624798:13,023,982...13,046,116 		JBrowse link
G Slit2 slit guidance ligand 2 ISO MouseDO NCBI chrNW_004624755:11,470,810...11,819,800
Ensembl chrNW_004624755:11,472,377...11,819,266 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 More... NCBI chrNW_004624763:7,074,468...7,141,388
Ensembl chrNW_004624763:7,082,692...7,140,453 		JBrowse link
G Zmynd10 zinc finger MYND-type containing 10 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chrNW_004624730:4,190,706...4,195,003
Ensembl chrNW_004624730:4,190,633...4,194,963 		JBrowse link
Kawasaki disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:16982510 RGD:5686751 NCBI chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012 		JBrowse link
G Ager advanced glycosylation end-product specific receptor severity ISO RGD PMID:22337222 RGD:8695960 NCBI chrNW_004624754:24,138,086...24,140,900 JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446961 NCBI chrNW_004624758:25,129,922...25,180,180
Ensembl chrNW_004624758:25,129,853...25,181,761 		JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22446961 PMID:22446962 PMID:22645426 RGD:8547776 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:12563087 RGD:11352236 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Clu clusterin treatment ISO RGD PMID:23956692 RGD:8975365 NCBI chrNW_004624758:22,431,331...22,444,185
Ensembl chrNW_004624758:22,426,918...22,444,357 		JBrowse link
G Crp C-reactive protein susceptibility ISO DNA:SNP: :1444 C-->T(human) RGD PMID:18710885 RGD:9495921 NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804 		JBrowse link
G Eln elastin ISO RGD PMID:21356372 RGD:9585741 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:22081228 PMID:22446962 NCBI chrNW_004624826:23,930...34,735 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO RGD PMID:11839635 RGD:1582494 NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104 		JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18720262 RGD:8695977 NCBI chrNW_004624776:7,858,400...7,862,716
Ensembl chrNW_004624776:7,793,259...7,863,184 		JBrowse link
G Hmox1 heme oxygenase 1 no_association ISO RGD PMID:14521259 RGD:1598409 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human) RGD PMID:23870089 RGD:8662464 NCBI chrNW_004624754:24,403,438...24,423,477
Ensembl chrNW_004624754:24,416,738...24,424,613 		JBrowse link
G Il13 interleukin 13 ISO RGD PMID:21958311 RGD:5684363 NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843 		JBrowse link
G Il18 interleukin 18 disease_progression
susceptibility		 ISO DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human)
DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human)		 RGD PMID:15345916 PMID:18484687 PMID:19288449 RGD:8655874 RGD:8655898 RGD:8655924 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:8777922 PMID:22361326 RGD:6482661 RGD:7401221 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:22367425 RGD:7829825 NCBI chrNW_004624733:39,412,800...39,420,079 JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084290 NCBI chrNW_004624925:645,528...663,768
Ensembl chrNW_004624925:645,385...662,580 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:cds: RGD PMID:15144709 PMID:24721319 RGD:8693744 RGD:8693748 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:blood RGD PMID:12626459 PMID:18311803 RGD:1580170 RGD:8547899 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:plasma RGD PMID:21410593 RGD:5685654 NCBI chrNW_004624818:1,139,776...1,141,010 JBrowse link
G Selp selectin P ISO RGD PMID:20079717 RGD:6478695 NCBI chrNW_004624826:7,510,039...7,544,332
Ensembl chrNW_004624826:7,511,646...7,537,924 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:blood RGD PMID:12626459 RGD:1580170 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA:increased expression:monocyte: RGD PMID:18353240 RGD:7777156 NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120 		JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment		 ISO DNA:SNP: :-308G>A (human) RGD PMID:8777922 PMID:14703611 PMID:14744383 PMID:18710885 RGD:1580318 RGD:7401183 RGD:7401221 RGD:9495921 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15470196 RGD:1580572 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
Langerhans-cell histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO OMIM:246400 | OMIM:604856 MouseDO NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
Left-Right Axis Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISO DNA:missense mutation:exon 2:R40H (human)
DNA:missense mutation:cds:p.R383C (human)
DNA:missense mutation:exon 2:c.119G>A,p.R40H (human)		 RGD PMID:9916847 PMID:21864452 PMID:30622330 RGD:329849115 RGD:329849116 RGD:329853750 NCBI chrNW_004624731:2,557,993...2,600,250
Ensembl chrNW_004624731:2,566,063...2,600,035 		JBrowse link
G Lefty2 left-right determination factor 2 ISO ClinVar Annotator: match by term: Left-right axis malformations ClinVar PMID:10053005 PMID:25741868 PMID:28492532 NCBI chrNW_004624807:71,011...75,210 JBrowse link
lymphadenitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sting1 stimulator of interferon response cGAMP interactor 1 disease_progression ISO associated with herpes simplex RGD PMID:27511736 RGD:39128217 NCBI chrNW_004624743:32,277,197...32,283,346
Ensembl chrNW_004624743:32,273,385...32,283,235 		JBrowse link
Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:10676886 RGD:14398737 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
Lymphangiectasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO DNA:point mutation:exon :p.S259A (mouse) RGD PMID:23391722 RGD:12910710 NCBI chrNW_004624872:204,357...284,487
Ensembl chrNW_004624872:204,357...269,135 		JBrowse link
lymphangioleiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss2 acyl-CoA synthetase short chain family member 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chrNW_004624842:4,470,551...4,523,174
Ensembl chrNW_004624842:4,471,360...4,522,849 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chrNW_004624767:18,109,011...18,161,378
Ensembl chrNW_004624767:18,109,008...18,161,639 		JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chrNW_004624860:3,257,805...3,261,736
Ensembl chrNW_004624860:3,257,853...3,261,735 		JBrowse link
G Gls glutaminase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chrNW_004624854:5,106,419...5,202,445
Ensembl chrNW_004624854:5,108,566...5,202,240 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chrNW_004624730:63,563,848...63,566,303
Ensembl chrNW_004624730:63,563,754...63,566,781 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chrNW_004624734:308,371...327,496
Ensembl chrNW_004624734:308,375...327,604 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Nthl1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624913:203,065...209,758
Ensembl chrNW_004624913:202,988...209,289 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chrNW_004624781:1,796,909...1,823,787
Ensembl chrNW_004624781:1,796,801...1,824,144 		JBrowse link
G Rictor RPTOR independent companion of MTOR complex 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chrNW_004624759:15,837,027...15,973,248
Ensembl chrNW_004624759:15,837,064...15,968,894 		JBrowse link
G Srf serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chrNW_004624754:16,371,995...16,381,287 JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis OMIM
ClinVar		 PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More... NCBI chrNW_004624760:3,479,028...3,536,612
Ensembl chrNW_004624760:3,498,692...3,532,011 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis OMIM
ClinVar		 PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... NCBI chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chrNW_004624829:148,371...181,742
Ensembl chrNW_004624829:148,317...181,098 		JBrowse link
Lymphatic Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein alpha 1 ISO RGD PMID:27899284 RGD:13592598 NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313 		JBrowse link
G Hoxa3 homeobox A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1673020 NCBI chrNW_004624739:3,453,358...3,498,061
Ensembl chrNW_004624739:3,478,406...3,498,333 		JBrowse link
Lymphatic Malformation 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 OMIM
ClinVar		 PMID:32908006 NCBI chrNW_004624861:4,457,519...4,510,035
Ensembl chrNW_004624861:4,457,158...4,509,623 		JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 ClinVar PMID:32908006 NCBI chrNW_004624861:4,373,743...4,556,933 JBrowse link
Lymphatic Malformation 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tie1 tyrosine kinase with immunoglobulin like and EGF like domains 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 11 OMIM
ClinVar		 PMID:32947856 NCBI chrNW_004624892:2,626,999...2,645,841
Ensembl chrNW_004624892:2,626,875...2,645,841 		JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chrNW_004624827:4,499,655...4,586,301
Ensembl chrNW_004624827:4,499,287...4,585,771 		JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 ClinVar
OMIM		 PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chrNW_004624748:1,843,361...1,875,748
Ensembl chrNW_004624748:1,846,249...1,875,156 		JBrowse link
Lymphatic Malformation 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erg ETS transcription factor ERG ISO ClinVar Annotator: match by term: Lymphatic malformation 14 OMIM
ClinVar		 PMID:36928819 NCBI chrNW_004624745:25,239,356...25,457,533
Ensembl chrNW_004624745:25,294,832...25,459,683 		JBrowse link
lymphatic malformation 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Diffuse lymphatic malformation | ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III | ClinVar Annotator: match by term: PIEZO1-related condition OMIM
ClinVar		 PMID:9536098 PMID:11001917 PMID:17576681 PMID:23479567 PMID:24033266 More... NCBI chrNW_004624746:821,651...871,481
Ensembl chrNW_004624746:821,726...871,481 		JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Lymphedema, hereditary, III ClinVar PMID:25741868 NCBI chrNW_004624826:6,243,809...6,268,973
Ensembl chrNW_004624826:6,243,809...6,267,989 		JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004624899:2,487,261...2,593,304
Ensembl chrNW_004624899:2,487,225...2,594,780 		JBrowse link
Lymphatic Malformation 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: CELSR1-related condition | ClinVar Annotator: match by term: Lymphatic malformation 9 OMIM
ClinVar		 PMID:25741868 PMID:26855770 PMID:28492532 PMID:31215153 PMID:31403174 NCBI chrNW_004624752:3,426,317...3,537,219
Ensembl chrNW_004624752:3,425,901...3,535,400 		JBrowse link
Lymphatic Metastasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca13 ATP binding cassette subfamily A member 13 susceptibility ISO DNA:amplification:cds: (human, male) RGD PMID:27366209 RGD:152995256 NCBI chrNW_004624740:5,112,422...5,488,394
Ensembl chrNW_004624740:5,114,019...5,488,385 		JBrowse link
G Adam28 ADAM metallopeptidase domain 28 ISO associated with breast cancer;DNA:hypermethylation: RGD PMID:25620615 RGD:153298970 NCBI chrNW_004624758:19,427,871...19,499,510
Ensembl chrNW_004624758:19,432,817...19,497,686 		JBrowse link
G Adgrb1 adhesion G protein-coupled receptor B1 disease_progression ISO associated with stomach cancer; RGD PMID:11172604 RGD:13831357 NCBI chrNW_004624735:14,049,621...14,126,287
Ensembl chrNW_004624735:14,050,213...14,113,534 		JBrowse link
G Aicda activation induced cytidine deaminase ISO associated with stomach cancer;protein:increased expression:stomach (human) RGD PMID:21538122 RGD:127285638 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Angptl4 angiopoietin like 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17130448 NCBI chrNW_004624828:1,152,788...1,158,864
Ensembl chrNW_004624828:1,152,891...1,158,420 		JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381893 NCBI chrNW_004624811:765,338...782,203
Ensembl chrNW_004624811:764,940...782,198 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chrNW_004624736:38,194,722...38,200,961
Ensembl chrNW_004624736:38,194,545...38,201,036 		JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO associated with nasopharynx carcinoma;mRNA, protein:increased expression: epithelium of nasopharynx RGD PMID:25961434 RGD:11056278 NCBI chrNW_004624820:302,000...381,043
Ensembl chrNW_004624820:305,475...381,058 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO associated with colorectal cancer RGD PMID:32317519 RGD:126779580 NCBI chrNW_004624741:188,985...258,065
Ensembl chrNW_004624741:188,745...250,142 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO associated Pancreatic Neoplasms RGD PMID:19252414 RGD:2325833 NCBI chrNW_004624907:76,236...106,765
Ensembl chrNW_004624907:77,806...106,228 		JBrowse link
G Bag1 BAG cochaperone 1 disease_progression ISO associated with Breast Neoplasms:protein:increased expression:breast RGD PMID:18430249 RGD:2292908 NCBI chrNW_004624736:38,015,150...38,025,079
Ensembl chrNW_004624736:38,015,044...38,025,079 		JBrowse link
G Bambi BMP and activin membrane bound inhibitor ISO associated with stomach cancer; protein:increased expression: : RGD PMID:24752577 RGD:14390158 NCBI chrNW_004624805:1,967,174...1,973,030
Ensembl chrNW_004624805:1,967,101...1,974,898 		JBrowse link
G Barhl2 BarH like homeobox 2 ISO associated with oral squamous cell carcinoma; mRNA:decreased expression:mouth mucosa RGD PMID:27542258 RGD:14390167 NCBI chrNW_004624742:7,027,122...7,033,342
Ensembl chrNW_004624742:7,027,069...7,034,308 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO associated with Breast Neoplasms;protein:increased expression:lymph node RGD PMID:18217456 RGD:2293013 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Bik BCL2 interacting killer ISO associated with cholangiocarcinoma;DNA:CNV:: RGD PMID:16865775 RGD:14394820 NCBI chrNW_004624752:5,839,422...5,856,350 JBrowse link
G Birc5 baculoviral IAP repeat containing 5 disease_progression ISO associated with Cervix Neoplasms;mRNA:splice variant
associated with Breast Neoplasms		 RGD PMID:17285241 PMID:17877643 RGD:2293098 RGD:2293103 NCBI chrNW_004624801:7,727,084...7,735,946
Ensembl chrNW_004624801:7,727,093...7,735,940 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29426936 NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Brd7 bromodomain containing 7 severity ISO protein:increased expression:lung: RGD PMID:22008115 RGD:9586442 NCBI chrNW_004624757:6,294,559...6,335,401
Ensembl chrNW_004624757:6,294,415...6,335,285 		JBrowse link
G Bsg basigin (Ok blood group) disease_progression ISO associated with Breast Neoplasms RGD PMID:16004819 RGD:2289055 NCBI chrNW_004624828:7,913,297...7,920,891
Ensembl chrNW_004624828:7,913,099...7,920,804 		JBrowse link
G Btk Bruton tyrosine kinase disease_progression ISO associated with lung adenocarcinoma;protein:increased expression:lung (human) RGD PMID:31200752 RGD:151347847 NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO associated with Cervix Neoplasms RGD PMID:17233814 RGD:2293196 NCBI chrNW_004624868:5,110,602...5,131,167
Ensembl chrNW_004624868:5,109,846...5,116,949 		JBrowse link
G Cab39 calcium binding protein 39 ISO associated with pancreatic cancer;RNA:increased expression:pancreas RGD PMID:28197410 RGD:14398834 NCBI chrNW_004624843:4,129,755...4,217,406
Ensembl chrNW_004624843:4,130,052...4,217,540 		JBrowse link
G Casp9 caspase 9 ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP:exon:rs1052576 (human) RGD PMID:17285546 RGD:13434907 NCBI chrNW_004624764:1,769,270...1,789,399
Ensembl chrNW_004624764:1,773,455...1,789,423 		JBrowse link
G Cav1 caveolin 1 disease_progression ISO associated with Melanoma RGD PMID:22134245 RGD:8661767 NCBI chrNW_004624827:2,844,855...2,878,367
Ensembl chrNW_004624827:2,844,115...2,879,179 		JBrowse link
G Cbl Cbl proto-oncogene ISO associated with stomach carcinoma;protein:increased expression:stomach RGD PMID:31611438 RGD:126925223 NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Cblb Cbl proto-oncogene B ISO associated with stomach carcinoma; RGD PMID:20038312 RGD:150540338 NCBI chrNW_004624731:43,803,743...44,018,682
Ensembl chrNW_004624731:43,803,768...44,015,870 		JBrowse link
G Ccnd2 cyclin D2 ISO associated with colorectal cancer;protein:increased expression:colorectum RGD PMID:19508551 RGD:151665111 NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107 		JBrowse link
G Ccne1 cyclin E1 ISO associated with Carcinoma, Transitional Cell;protein:decreased expression RGD PMID:16949911 RGD:2289266 NCBI chrNW_004624794:4,957,156...4,967,058
Ensembl chrNW_004624794:4,957,178...4,967,140 		JBrowse link
G Ccnh cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745 		JBrowse link
G Cd274 CD274 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16530813 NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814 		JBrowse link
G Cd40 CD40 molecule ISO associated with breast cancer;DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485) (human) RGD PMID:21912605 RGD:8547780 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cd44 CD44 molecule (IN blood group) ISO associated with Breast Neoplasms, Colorectal Neoplasms, Stomach Neoplasms;mRNA, protein:splice variant, increased expression:breast, large intestine, stomach RGD PMID:16425351 RGD:2289356 NCBI chrNW_004624767:11,938,452...12,024,970
Ensembl chrNW_004624767:11,938,028...12,025,069 		JBrowse link
G Cdh1 cadherin 1 ISO associated with Cervix Neoplasms
associated with Breast Neoplasms		 RGD PMID:17649807 PMID:18097581 RGD:2289498 RGD:2296046 NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO associated with Eyelid Neoplasms;
associated with Oral Squamous Cell Carcinoma;		 RGD PMID:15817070 PMID:19628749 RGD:8661799 RGD:8662374 NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO associated with non-small cell lung carcinoma
associated with Breast Neoplasms		 RGD PMID:12015771 PMID:28601655 RGD:13673921 RGD:2293607 NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114 		JBrowse link
G Cldn1 claudin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33665778 NCBI chrNW_004624730:66,885,674...66,902,345
Ensembl chrNW_004624730:66,885,319...66,903,079 		JBrowse link
G Clptm1l CLPTM1 like ISO associated with esophagus squamous cell carcinoma; mRNA:increased expression:esophagus RGD PMID:25480402 RGD:150530497 NCBI chrNW_004624751:652,857...669,400
Ensembl chrNW_004624751:652,767...669,587 		JBrowse link
G Clu clusterin ISO associated with breast cancer;DNA:snp:promoter:g.27611345C>G (rs9331888) (human) RGD PMID:22037783 RGD:8963167 NCBI chrNW_004624758:22,431,331...22,444,185
Ensembl chrNW_004624758:22,426,918...22,444,357 		JBrowse link
G Comt catechol-O-methyltransferase ISO associated with breast cancer;DNA:missense mutation:cds:p.V108/158M (human) RGD PMID:10755383 RGD:8662330 NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Crp C-reactive protein susceptibility ISO associated with Breast Neoplasm; DNA:polymorphism: :1846C>T(rs1205)(human) RGD PMID:24633920 RGD:9580226 NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO associated with Breast Neoplasms RGD PMID:14734466 RGD:2293711 NCBI chrNW_004624774:9,363,156...9,391,939
Ensembl chrNW_004624774:9,363,908...9,391,986 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO associated with Prostatic Neoplasms RGD PMID:10611340 RGD:4891523 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Ctnna1 catenin alpha 1 ISO associated with Breast Neoplasms RGD PMID:12047765 RGD:2289795 NCBI chrNW_004624743:31,512,481...31,700,340 JBrowse link
G Ctnnb1 catenin beta 1 ISO associated with Breast Neoplasms;protein:decreased expression RGD PMID:17908479 RGD:2289813 NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 disease_progression ISO associated with stomach cancer;mRNA:increased expression:stomach (human) RGD PMID:21633638 RGD:152023624 NCBI chrNW_004624922:1,261,228...1,273,755
Ensembl chrNW_004624922:1,261,228...1,273,758 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO associated with nasopharynx carcinoma; protein:increased expression:lymph node (human) RGD PMID:16000558 RGD:151893515 NCBI chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 severity ISO mRNA:increased expression:kidney, lymph nodes (human)
mRNA, protein:increased expression:mouth (human)		 RGD PMID:27020590 PMID:31253192 RGD:151347620 RGD:151347863 NCBI chrNW_004624754:24,881,439...24,905,633
Ensembl chrNW_004624754:24,880,496...24,896,995 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO associated with oral squamous cell carcinoma RGD PMID:29945346 RGD:150429700 NCBI chrNW_004624826:1,225,217...1,255,889
Ensembl chrNW_004624826:1,173,621...1,249,692 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO associated with Carcinoma, Pancreatic Ductal; RGD PMID:22919364 RGD:9589121 NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785 		JBrowse link
G Ebag9 estrogen receptor binding site associated antigen 9 ISO associated with Prostatic Neoplasm;protein:increased expression:prostate gland, lymph node
associated with Breast Neoplasms;protein:increased expression:breast		 RGD PMID:12054692 PMID:12845666 PMID:17187007 RGD:2289847 RGD:2289856 RGD:2298489 NCBI chrNW_004624763:8,621,666...8,649,109
Ensembl chrNW_004624763:8,621,638...8,650,016 		JBrowse link
G Egfr epidermal growth factor receptor treatment ISO associated with Squamous Cell Carcinoma of the Tongue RGD PMID:19380367 RGD:8551769 NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO associated with Melanoma;
associated with Esophageal Squamous Cell Carcinoma;		 RGD PMID:24658378 PMID:24805087 RGD:9590069 RGD:9590071 NCBI chrNW_004624754:24,354,271...24,368,319
Ensembl chrNW_004624754:24,354,284...24,368,638 		JBrowse link
G Epha2 EPH receptor A2 ISO protein:increased expression:esophagus (human) RGD PMID:33833989 RGD:153344568 NCBI chrNW_004624764:2,265,114...2,296,032
Ensembl chrNW_004624764:2,264,945...2,296,197 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder
associated with lung adenocarcinoma; protein:increased expression:lung (human)
CTD Direct Evidence: marker/mechanism
associated with Breast Neoplasms;DNA, protein:polymorphism, increased expression:serum:p.I655V		 RGD
CTD		 PMID:18097576 PMID:18237248 PMID:21532492 PMID:21966491 RGD:153344600 RGD:2289925 RGD:2289926 NCBI chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO associated with head and neck squamous cell carcinoma
associated with Prostatic Neoplasms;protein:increased expression, altered localization:lymph node, nucleus		 RGD PMID:17634423 PMID:20604875 RGD:126790467 RGD:2289944 NCBI chrNW_004624802:11,906,279...11,925,530
Ensembl chrNW_004624802:11,905,271...11,925,707 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 severity
disease_progression		 ISO associated with colorectal adenocarcinoma
associated with lung non-small cell carcinoma
associated with oral squamous cell carcinoma		 RGD PMID:16507107 PMID:21324275 PMID:27444519 RGD:126781762 RGD:126781766 RGD:126790471 NCBI chrNW_004624765:3,612,781...4,742,219
Ensembl chrNW_004624765:3,613,379...4,734,585 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO associated with Cervix Neoplasms;DNA:polymorphism:promoter:-1377G>A RGD PMID:18068525 RGD:2298509 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Fgf1 fibroblast growth factor 1 ISO associated with Cervix Neoplasms;mRNA:increased expression:lymph node RGD PMID:17242701 RGD:2290286 NCBI chrNW_004624774:1,779,168...1,867,321
Ensembl chrNW_004624774:1,779,170...1,867,300 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with breast cancer;DNA:snp:intron:c.109+7033T>A (rs1219648) (human) RGD PMID:20640597 RGD:7394846 NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529 		JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 disease_progression ISO associated with Prostatic Neoplasms RGD PMID:14566827 RGD:2302210 NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066 		JBrowse link
G Foxa1 forkhead box A1 ISO associated with lung non-small cell carcinoma; mRNA:increased expression: : RGD PMID:29115441 RGD:151665751 NCBI chrNW_004624955:234,289...239,541
Ensembl chrNW_004624955:231,506...239,508 		JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25485836 NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO associated with stomach carcinoma; DNA:hypermethylation:promoter RGD PMID:23071548 RGD:151665353 NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993 		JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chrNW_004624810:2,731,573...3,407,186
Ensembl chrNW_004624810:2,733,118...3,401,909 		JBrowse link
G Hmgb1 high mobility group box 1 ISO associated with Adenocarcinoma, Colon RGD PMID:20616616 RGD:10402080 NCBI chrNW_004624776:7,858,400...7,862,716
Ensembl chrNW_004624776:7,793,259...7,863,184 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO associated with Breast Neoplasms RGD PMID:21590495 RGD:8547712 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Ier2 immediate early response 2 ISO RGD PMID:22120713 RGD:153323322 NCBI chrNW_004624901:684,313...686,488
Ensembl chrNW_004624901:684,966...685,652 		JBrowse link
G Il13 interleukin 13 ISO associated with Melanoma, Cutaneous Malignant;mRNA:increased expression:lymph node RGD PMID:17545514 RGD:8549587 NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843 		JBrowse link
G Il18 interleukin 18 ISO associated with Breast Neoplasms;protein:increased expression:serum RGD PMID:12902898 RGD:8655867 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Ing4 inhibitor of growth family member 4 ISO CTD Direct Evidence: therapeutic CTD PMID:27806345 NCBI chrNW_004624860:3,353,443...3,362,541
Ensembl chrNW_004624860:3,353,489...3,362,430 		JBrowse link
G Itgb1 integrin subunit beta 1 ISO associated with non-small cell lung carcinoma, RGD PMID:28537888 RGD:13792830 NCBI chrNW_004624805:8,748,848...8,800,259
Ensembl chrNW_004624805:8,765,949...8,802,149 		JBrowse link
G Kcnj12 potassium inwardly rectifying channel subfamily J member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34755307 NCBI chrNW_004624849:5,092,750...5,132,246 JBrowse link
G Kdr kinase insert domain receptor treatment ISO associated with Squamous Cell Carcinoma of the Tongue RGD PMID:19380367 RGD:8551769 NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051 		JBrowse link
G Kiss1 KiSS-1 metastasis suppressor ISO CTD Direct Evidence: therapeutic CTD PMID:21383688 NCBI chrNW_004624807:6,800,144...6,805,555
Ensembl chrNW_004624807:6,803,265...6,805,433 		JBrowse link
G Klf7 KLF transcription factor 7 ISO CTD Direct Evidence: therapeutic CTD PMID:37734194 NCBI chrNW_004624765:8,823,319...8,914,016
Ensembl chrNW_004624765:8,823,251...8,910,068 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO associated with stomach cancer RGD PMID:30177394 RGD:150521710 NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO associated with lung squamous cell carcinoma; RGD PMID:23124251 RGD:13793371 NCBI chrNW_004624814:10,475,629...10,536,694
Ensembl chrNW_004624814:10,476,323...10,536,724 		JBrowse link
G LOC101718508 cytochrome c, somatic ISO associated with non-small cell lung carcinoma; protein:decreased expression:serum RGD PMID:25578497 RGD:13792769 NCBI chrNW_004624739:5,411,192...5,413,995
Ensembl chrNW_004624739:5,411,273...5,413,995 		JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chrNW_004624795:6,317,677...6,328,554
Ensembl chrNW_004624795:6,316,472...6,329,166 		JBrowse link
G Macir macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chrNW_004624743:21,372,253...21,389,202
Ensembl chrNW_004624743:21,372,278...21,387,871 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29426936 NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995 		JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO associated with Carcinoma, Ductal, Breast
associated with Tongue Neoplasms		 RGD PMID:23107277 PMID:23280016 RGD:8547824 RGD:8655998 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO associated with breast cancer;DNA:deletion:promoter:-1170_-1172delA (human) RGD PMID:15161710 RGD:8662937 NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO associated with Tongue Neoplasms
associated with Carcinoma, Non-Small-Cell Lung;protein:increased expression:serum
associated with Endometrial Neoplasms;protein:increased expression:endometrium		 RGD PMID:12487935 PMID:20704821 PMID:23107277 RGD:2298523 RGD:5129215 RGD:8547824 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Msh2 mutS homolog 2 ISO associated with laryngeal squamous cell carcinoma RGD PMID:24459922 RGD:126848797 NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704 		JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22644300 NCBI chrNW_004624913:1,566,516...1,576,605
Ensembl chrNW_004624913:1,570,832...1,580,058 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO associated with Carcinoma, Renal Cell;
associated with Esophageal Neoplasms
associated with Common Bile Duct Neoplasms
associated with Gallbladder Neoplasms;protein:altered localization:gallbladder		 RGD PMID:10390012 PMID:11295067 PMID:16222735 PMID:21339746 RGD:2324649 RGD:2324860 RGD:7245968 RGD:7349383 NCBI chrNW_004624885:2,339,281...2,343,351 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO associated with chloangiocarcinoma;protein:increased expression:bile duct RGD PMID:16842244 RGD:2325168 NCBI chrNW_004624766:21,439,023...21,461,108 JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO RGD PMID:10086383 RGD:2326067 NCBI chrNW_004624784:8,339,582...8,635,025
Ensembl chrNW_004624784:8,339,916...8,636,012 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Breast Neoplasms;DNA:polymorphisms:promoter, exon:-786T>C,p.E298D (human) RGD PMID:17262178 RGD:2292070 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO associated with breast cancer;DNA:missense mutation:cds:p.S326C (rs1052133) (human) RGD PMID:18977234 RGD:8657156 NCBI chrNW_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196 		JBrowse link
G Pagr1 PAXIP1 associated glutamate rich protein 1 disease_progression ISO protein:decreased expression:esophagus (human) RGD PMID:33833989 RGD:153344568 NCBI chrNW_004624782:13,387,155...13,390,153
Ensembl chrNW_004624782:13,387,376...13,389,740 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO associated with Breast Neoplasms;mRNA:increased expression:breast RGD PMID:8619189 RGD:2292155 NCBI chrNW_004624740:26,172,808...26,191,557
Ensembl chrNW_004624740:26,169,064...26,188,866 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO associated with Breast Neoplasms;mRNA:increased expression:lymph node RGD PMID:17674348 RGD:2292173 NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO associated with non-small cell lung carcinoma;mRNA:increased expression:blood serum RGD PMID:25064732 RGD:13503320 NCBI chrNW_004624824:279,893...383,220
Ensembl chrNW_004624824:293,374...383,156 		JBrowse link
G Pdpn podoplanin ISO associated with Cervix Neoplasms
associated with Breast Neoplasms		 RGD PMID:16528371 PMID:18165897 RGD:2292231 RGD:2292237 NCBI chrNW_004624764:163,370...192,770 JBrowse link
G Pebp1 phosphatidylethanolamine binding protein 1 ISO associated with Breast Neoplasms
associated with Cervix Neoplasms		 RGD PMID:16243812 PMID:18191186 RGD:2302867 RGD:2302868 NCBI chrNW_004624747:15,340,020...15,346,960
Ensembl chrNW_004624747:15,339,844...15,346,970 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO associated with Colorectal Neoplasms RGD PMID:25550888 RGD:13432030 NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta ISO associated with Colorectal Neoplasms RGD PMID:25550888 RGD:13432030 NCBI chrNW_004624730:15,226,786...15,399,097
Ensembl chrNW_004624730:15,226,379...15,355,857 		JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:34755307 NCBI chrNW_004624772:18,616,095...18,658,016
Ensembl chrNW_004624772:18,616,121...18,658,286 		JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO associated with Seminoma; associated with Carcinoma, Embryonal RGD PMID:15386301 RGD:2292442 NCBI chrNW_004624754:24,758,055...24,764,723 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO associated with Cholangiocarcinoma;protein:increased expression:bile duct epithelium RGD PMID:20021832 RGD:2317459 NCBI chrNW_004624956:84,673...207,176
Ensembl chrNW_004624956:83,842...149,481 		JBrowse link
G Prex1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 ISO associated with Prostatic Neoplasms RGD PMID:19305425 RGD:2314605 NCBI chrNW_004624790:6,453,085...6,622,179
Ensembl chrNW_004624790:6,453,066...6,637,597 		JBrowse link
G Pten phosphatase and tensin homolog ISO associated with Prostatic Neoplasms;protein:decreased expression:prostate
associated with Breast Neoplasms		 RGD PMID:17163422 PMID:17919877 RGD:2292499 RGD:2292507 NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO associated with Biliary Tract Neoplasms
associated with Breast Neoplasms
associated with carcinoma, non-small-cell lung; DNA:SNP: :929G>C(human)		 RGD PMID:18159174 PMID:18353210 PMID:20016751 RGD:2300128 RGD:2317165 RGD:5135471 NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728 		JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO associated with lung squamous cell carcinoma; protein:increased tyrosine phosphorylation:lymph node RGD PMID:23906871 RGD:152176664 NCBI chrNW_004624735:15,356,911...15,713,219
Ensembl chrNW_004624735:15,461,178...15,714,071 		JBrowse link
G Ptpn13 protein tyrosine phosphatase non-receptor type 13 ISO associated with lung squamous cell carcinoma; protein:decreased expression:lymph node RGD PMID:23906871 RGD:152176664 NCBI chrNW_004624872:3,183,381...3,406,339
Ensembl chrNW_004624872:3,226,000...3,405,805 		JBrowse link
G Ramp2 receptor activity modifying protein 2 disease_progression ISO associated with colorectal cancer; protein:increased expression:lymph node (human) RGD PMID:23634287 RGD:151708733 NCBI chrNW_004624795:1,435,121...1,436,421 JBrowse link
G Ramp3 receptor activity modifying protein 3 ISO associated with colorectal cancer; protein:increased expression:lymph node (human) RGD PMID:23634287 RGD:151708733 NCBI chrNW_004624740:7,240,841...7,249,313
Ensembl chrNW_004624740:7,241,296...7,249,410 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17013896 NCBI chrNW_004624741:5,851,260...5,894,972
Ensembl chrNW_004624741:5,857,607...5,894,969 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO associated with lung adenocarcinoma;DNA:missense mutation:exon:p.R241C (c.763C>T) (human) RGD PMID:30405763 RGD:151356993 NCBI chrNW_004624887:3,921,934...3,953,739
Ensembl chrNW_004624887:3,923,986...3,957,133 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO associated with Prostatic Neoplasms;protein:altered localization:nucleus, prostate gland RGD PMID:17020979 RGD:2298757 NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272 		JBrowse link
G Ret ret proto-oncogene ISO associated with Pancreatic Neoplasms RGD PMID:18652760 RGD:2324925 NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281 		JBrowse link
G Rhoa ras homolog family member A ISO associated with Bladder Neoplasms;protein:increased expression:lymph node
associated with colorectal cancer		 RGD PMID:12855641 PMID:17597401 RGD:13432052 RGD:2298872 NCBI chrNW_004624730:3,316,122...3,361,820 JBrowse link
G Rictor RPTOR independent companion of MTOR complex 2 ISO associated with breast ductal carcinoma; protein:increased expression:breast tumor, lymph node (human) RGD PMID:20978191 RGD:152995469 NCBI chrNW_004624759:15,837,027...15,973,248
Ensembl chrNW_004624759:15,837,064...15,968,894 		JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381893 NCBI chrNW_004624764:10,859,556...10,860,876
Ensembl chrNW_004624764:10,859,667...10,860,413 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:16080017 RGD:2315043 NCBI chrNW_004624759:18,796,055...18,858,692
Ensembl chrNW_004624759:18,830,323...18,858,712 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 severity ISO associated with stomach carcinoma
associated with gastric adenocarcinoma;protein:increased expression: :		 RGD PMID:21501294 PMID:25908107 RGD:11052781 RGD:151361203 NCBI chrNW_004624746:1,325,368...1,349,616 JBrowse link
G Smad4 SMAD family member 4 ISO associated with Breast Neoplasms RGD PMID:11809701 RGD:2300007 NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325 		JBrowse link
G Smo smoothened, frizzled class receptor ISO associated with colorectal cancer RGD PMID:30784110 RGD:150520177 NCBI chrNW_004624783:7,012,385...7,039,302
Ensembl chrNW_004624783:7,011,899...7,039,921 		JBrowse link
G Sncg synuclein gamma ISO RGD PMID:15221989 RGD:6478801 NCBI chrNW_004624841:192,396...196,568
Ensembl chrNW_004624841:192,398...196,064 		JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO associated with Prostatic Neoplasms RGD PMID:16707422 RGD:2298925 NCBI chrNW_004624750:13,333,393...13,339,018 JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO associated with Breast Neoplasms RGD PMID:18097573 RGD:2298901 NCBI chrNW_004624801:7,841,230...7,843,912
Ensembl chrNW_004624801:7,840,889...7,843,860 		JBrowse link
G Sod2 superoxide dismutase 2 disease_progression ISO associated with tongue neoplasms;
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10853026 PMID:19381893 PMID:20618948 RGD:8547519 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Sox2 SRY-box transcription factor 2 disease_progression ISO associated with Breast Neoplasms RGD PMID:24382260 RGD:8661670 NCBI chrNW_004624730:59,570,879...59,573,001
Ensembl chrNW_004624730:59,570,915...59,571,871 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO associated with colon adenocarcinoma, RGD PMID:21282564 RGD:150520218 NCBI chrNW_004624842:2,212,561...2,260,514
Ensembl chrNW_004624842:2,211,020...2,230,132 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO associated with Endometrial Neoplasms RGD PMID:19443387 RGD:2315087 NCBI chrNW_004624812:4,584,043...4,620,410
Ensembl chrNW_004624812:4,583,946...4,620,547 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21549414 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO associated with Breast Neoplasms;protein:decreased expression RGD PMID:12114407 RGD:2291948 NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298 		JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO associated with lung non-small cell carcinoma; RGD PMID:11679180 RGD:152977755 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO associated with Breast Neoplasms;mRNA:increased expression:breast RGD PMID:12828172 RGD:2290437 NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO associated with Breast Neoplasms;mRNA:increased expression:breast RGD PMID:12828172 RGD:2290437 NCBI chrNW_004624956:331,275...341,561
Ensembl chrNW_004624956:330,327...337,299 		JBrowse link
G Tlr4 toll like receptor 4 ISO associated with Carcinoma, Ductal, Breast; RGD PMID:23338716 RGD:7794684 NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120 		JBrowse link
G Tp53 tumor protein p53 ISO associated with Breast Neoplasms;DNA:missense mutation, duplication:cds, intron:p.R72P
associated with Penile Neoplasms
associated with Carcinoma, Squamous Cell;		 RGD PMID:18059331 PMID:18230179 PMID:18268397 RGD:2290533 RGD:2290534 RGD:8547790 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chrNW_004624804:10,517,531...10,612,238
Ensembl chrNW_004624804:10,517,696...10,591,688 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO associated with Breast Neoplasms RGD PMID:15951164 RGD:11568707 NCBI chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9062474 NCBI chrNW_004624734:20,880,438...21,050,756
Ensembl chrNW_004624734:20,882,154...21,050,626 		JBrowse link
G Ttr transthyretin ISO associated with colorectal cancer;protein:decreased expresion:blood serum (human) RGD PMID:21074777 RGD:151665155 NCBI chrNW_004624770:1,255,401...1,262,019
Ensembl chrNW_004624770:1,251,716...1,262,213 		JBrowse link
G Tymp thymidine phosphorylase ISO associated with Breast Neoplasms
associated with Cholangiocarcinoma		 RGD PMID:10685502 PMID:11927969 RGD:2293725 RGD:2325027 NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Breast neoplasms;
associated with Cervix Neoplasms		 RGD PMID:17597103 PMID:19783962 RGD:2315454 RGD:7421574 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Vegfc vascular endothelial growth factor C exacerbates
disease_progression		 ISO associated with Lymphatic Metastasis;
associated with pancreatic adenocarcinoma;protein:increased expression:pancreas (human)
associated with Breast Neoplasms
associated with Prostatic Neoplasms
associated with thyroid diseases;mRNA:increased expression:thyroid gland:
associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder
associated with Cervix Neoplasms		 RGD PMID:12203051 PMID:15289890 PMID:17034609 PMID:18061373 PMID:19589137 More... RGD:155630642 RGD:2315469 RGD:2315474 RGD:2315475 RGD:2315484 RGD:7483611 RGD:7488946 NCBI chrNW_004624769:7,689,812...7,817,366
Ensembl chrNW_004624769:7,689,407...7,817,450 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO associated with Cervix Neoplasms
associated with Breast Neoplasms		 RGD PMID:17951197 PMID:19589137 RGD:2315475 RGD:2315480 NCBI chrNW_004624829:148,371...181,742
Ensembl chrNW_004624829:148,317...181,098 		JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO associated with esophagus squamous cell carcinoma;
associated with lung non-small cell carcinoma;		 RGD PMID:24626331 PMID:31281482 RGD:21081513 RGD:21081532 NCBI chrNW_004624786:10,283,721...10,296,568
Ensembl chrNW_004624786:10,283,984...10,296,729 		JBrowse link
lymphedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO mRNA:increased expression:adipose tissue: RGD PMID:21510802 RGD:12879442 NCBI chrNW_004624791:15,243,074...15,259,362
Ensembl chrNW_004624791:15,242,432...15,259,508 		JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Lymphedema ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624817:8,111,714...8,147,699
Ensembl chrNW_004624817:8,111,718...8,134,342 		JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Early onset lymphedema ClinVar PMID:16965327 PMID:25741868 NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674 		JBrowse link
G Foxc2 forkhead box C2 ISO lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA
lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA		 RGD PMID:11371511 PMID:15523639 RGD:1601216 RGD:1601217 NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085 		JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21892158 NCBI chrNW_004624961:147,685...155,614
Ensembl chrNW_004624961:143,358...154,003 		JBrowse link
G Gjc2 gap junction protein gamma 2 ISO DNA:missense mutations:cds:p.S48L, p.M210R (human)
DNA:missense mutations:cds:multiple (human)		 RGD PMID:20537300 PMID:21266381 RGD:13208589 RGD:13208590 NCBI chrNW_004624937:898,876...905,247 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lymphedema | ClinVar Annotator: match by term: Lymphoedema ClinVar PMID:18564920 PMID:24339735 PMID:24728327 PMID:25637381 PMID:25741868 More... NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995 		JBrowse link
G Pgf placental growth factor ISO associated with Elephantiasis, Filarial;protein:increased expression:plasma RGD PMID:20889885 RGD:6483608 NCBI chrNW_004624734:26,751,986...26,764,154
Ensembl chrNW_004624734:26,751,530...26,764,242 		JBrowse link
lymphedema-distichiasis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome OMIM
ClinVar		 PMID:10417285 PMID:11078474 PMID:11371511 PMID:11499682 PMID:12114478 More... NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085 		JBrowse link
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus ClinVar PMID:15523639 NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085 		JBrowse link
lymphoblastic lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo1 forkhead box O1 ISO RGD PMID:17254969 RGD:155630604 NCBI chrNW_004624748:1,413,754...1,529,646
Ensembl chrNW_004624748:1,413,983...1,529,992 		JBrowse link
G Foxo3 forkhead box O3 ISO RGD PMID:17254969 RGD:155630604 NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374 		JBrowse link
G Foxo4 forkhead box O4 ISO RGD PMID:17254969 RGD:155630604 NCBI chrNW_004624903:1,390,899...1,399,745
Ensembl chrNW_004624903:1,391,910...1,399,949 		JBrowse link
lymphoid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23589568 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Bcl2l1 BCL2 like 1 ISO RGD PMID:21998213 RGD:11353857 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO DNA:hypermethylation:promoter: RGD PMID:10602427 RGD:11252194 NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440 		JBrowse link
G Clptm1l CLPTM1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292274 NCBI chrNW_004624751:652,857...669,400
Ensembl chrNW_004624751:652,767...669,587 		JBrowse link
G Eng endoglin disease_progression ISO RGD PMID:25030442 RGD:11041170 NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO DNA:translocation: : RGD PMID:9539781 RGD:10450724 NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa treatment
no_association		 ISO DNA:polymorphism:exon:p.H131A (human) RGD PMID:15217834 PMID:20705761 RGD:11344968 RGD:11344969 NCBI chrNW_004624826:23,930...34,735 JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb treatment ISO RGD PMID:20705761 RGD:11344969 NCBI chrNW_004624826:97,605...112,101 JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa no_association ISO DNA:polymorphism:exon:p.F158V (rs396991) (human) RGD PMID:15217834 RGD:11344968 NCBI chrNW_004624826:51,387...59,117 JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:8569275 RGD:11059504 NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535 		JBrowse link
G Ipcef1 interaction protein for cytohesin exchange factors 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292274 NCBI chrNW_004624785:4,031,811...4,114,650
Ensembl chrNW_004624785:4,017,720...4,111,043 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17463288 NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077 		JBrowse link
G Lyl1 LYL1 basic helix-loop-helix family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:3162254 NCBI chrNW_004624901:645,263...648,550
Ensembl chrNW_004624901:645,924...649,100 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770046 NCBI chrNW_004624730:47,104,929...47,693,885
Ensembl chrNW_004624730:47,104,319...47,284,839 		JBrowse link
G Pot1 protection of telomeres 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23502782 PMID:24292274 NCBI chrNW_004624783:11,138,222...11,223,329
Ensembl chrNW_004624783:11,138,303...11,223,044 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO DNA:translocation: : RGD PMID:9539781 RGD:10450724 NCBI chrNW_004624745:22,921,180...23,158,250
Ensembl chrNW_004624745:22,921,120...23,157,876 		JBrowse link
G Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor ISO MouseDO NCBI chrNW_004624859:5,586,489...5,601,225
Ensembl chrNW_004624859:5,586,977...5,601,460 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292274 NCBI chrNW_004624751:624,569...647,198 JBrowse link
lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO DNA:deletion:exon:
DNA:missense mutation:cds:		 RGD PMID:27895165 PMID:28007901 RGD:12879393 RGD:12879399 NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G Bcl11b BCL11 transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941976 NCBI chrNW_004624734:4,560,362...4,649,219
Ensembl chrNW_004624734:4,560,699...4,647,858 		JBrowse link
G Cd274 CD274 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28736328 NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:9488045 NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO DNA:missense mutation:CDS p.D140E (rs7479004) (human) RGD PMID:25407497 RGD:153323305 NCBI chrNW_004624860:3,285,086...3,318,939
Ensembl chrNW_004624860:3,283,837...3,318,985 		JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406608 NCBI chrNW_004624835:6,161,930...6,181,016
Ensembl chrNW_004624835:6,162,111...6,168,714 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO RGD PMID:11238917 RGD:11567233 NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Lymphoma ClinVar PMID:23023262 PMID:24563539 PMID:26619011 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO MouseDO NCBI chrNW_004624754:22,888,052...22,900,685
Ensembl chrNW_004624754:22,892,226...22,898,807 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Lymphoma ClinVar NCBI chrNW_004624765:7,806,560...7,825,520 JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11980663 NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Lymphoma ClinVar NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9205081 NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Mad1l1 mitotic arrest deficient 1 like 1 ISO RGD PMID:11423979 RGD:1599865 NCBI chrNW_004624740:27,174,450...27,523,366
Ensembl chrNW_004624740:27,174,354...27,523,492 		JBrowse link
G Malt1 MALT1 paracaspase ISO RGD PMID:10523859 RGD:1599913 NCBI chrNW_004624792:4,148,258...4,223,431
Ensembl chrNW_004624792:4,148,453...4,217,548 		JBrowse link
G Mlh1 mutL homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15700306 NCBI chrNW_004624788:15,110,436...15,160,462
Ensembl chrNW_004624788:15,110,658...15,160,535 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799656 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799656 NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Lymphoma ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18798262 NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9205081 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Lymphoma ClinVar PMID:25741868 NCBI chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: therapeutic CTD PMID:17441966 NCBI chrNW_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196 		JBrowse link
G Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO DNA:translocation:intron:t(ll;14)(q23;q32) (human) RGD PMID:11983068 RGD:4107059 NCBI chrNW_004624784:12,583,430...12,619,816 JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22800774 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Ppp1r9b protein phosphatase 1 regulatory subunit 9B susceptibility ISO RGD PMID:21670604 RGD:10043812 NCBI chrNW_004624795:6,124,273...6,137,776
Ensembl chrNW_004624795:6,124,159...6,137,955 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:17609424 RGD:6483350 NCBI chrNW_004624754:23,811,008...23,815,432
Ensembl chrNW_004624754:23,807,272...23,815,417 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287727 NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: therapeutic CTD PMID:19075289 NCBI chrNW_004624759:14,243,887...14,259,090
Ensembl chrNW_004624759:14,244,899...14,258,445 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Lymphoma ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12325025 PMID:12634870 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19783987 NCBI chrNW_004624752:10,589,017...10,620,652
Ensembl chrNW_004624752:10,589,017...10,601,661 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO DNA:point mutation:codon 494:Glu-Asp RGD PMID:9047386 RGD:2298891 NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272 		JBrowse link
G Rpl11 ribosomal protein L11 susceptibility ISO RGD PMID:26489471 RGD:11535971 NCBI chrNW_004624764:8,258,656...8,262,842
Ensembl chrNW_004624764:8,258,709...8,266,016 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Lymphoma ClinVar NCBI chrNW_004624778:8,444,681...8,800,595
Ensembl chrNW_004624778:8,465,462...8,800,815 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO RGD PMID:15231650 RGD:1581305 NCBI chrNW_004624756:5,128,848...5,156,174 JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Lymphoma ClinVar PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 More... NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Twf1 twinfilin actin binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19783987 NCBI chrNW_004624816:8,765,937...8,780,301
Ensembl chrNW_004624816:8,765,922...8,778,396 		JBrowse link
Lymphoma, AIDS-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase disease_progression ISO RGD PMID:18090274 RGD:32716407 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7680712 PMID:9817281 NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:12176798 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Sdc1 syndecan 1 ISO protein:altered expression:tumor (human) RGD PMID:11157493 RGD:9743929 NCBI chrNW_004624738:2,920,154...2,938,035 JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:26325374 RGD:11062098 NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550 		JBrowse link
Lymphomatoid Papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11594583 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11594583 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:11594583 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522 		JBrowse link
lymphoplasmacytic lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO DNA:mutation:cds:1013C>G(p.S338X)(human) RGD PMID:24711662 RGD:11352304 NCBI chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528 		JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa disease_progression
treatment		 ISO DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)		 RGD PMID:15659493 PMID:21564078 RGD:11040774 RGD:11352262 NCBI chrNW_004624826:51,387...59,117 JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:increased expression:bone marrow RGD PMID:32763516 RGD:401827827 NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs: :multiple RGD PMID:19573080 RGD:11049165 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il6 interleukin 6 no_association ISO DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
DNA:SNPs: :multiple		 RGD PMID:19573080 RGD:11049165 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:23355206 RGD:11530052 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic OMIM
ClinVar		 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
lymphoproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2-microglobulin ISO associated with Herpesviridae Infections
associated with kidney transplantation		 RGD PMID:9067691 PMID:16282467 RGD:6482705 RGD:6483039 NCBI chrNW_004624804:11,514,728...11,521,625 JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35534561 NCBI chrNW_004624746:28,694,879...28,700,711
Ensembl chrNW_004624746:28,694,735...28,700,827 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:deletions RGD PMID:7539157 PMID:15148335 RGD:11049166 RGD:1600310 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO RGD PMID:15718420 RGD:11049481 NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136 		JBrowse link
G Itk IL2 inducible T cell kinase ISO ClinVar Annotator: match by term: Lymphoproliferative disorder ClinVar NCBI chrNW_004624733:32,125,005...32,198,901
Ensembl chrNW_004624733:32,127,388...32,198,869 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Duncan disease ClinVar PMID:25741868 NCBI chrNW_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Epstein Barr virus infection familial fatal | ClinVar Annotator: match by term: Lymphoproliferative disorder | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome ClinVar PMID:3374620 PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 More... NCBI chrNW_004624797:3,120,123...3,142,564
Ensembl chrNW_004624797:3,120,123...3,142,564 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Duncan disease ClinVar PMID:25741868 NCBI chrNW_004624885:1,951,442...1,960,292
Ensembl chrNW_004624885:1,952,387...1,960,424 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:deletion:3' utr:*55_*58delTGTG (human) RGD PMID:16734634 RGD:5684949 NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22859607 RGD:6892715 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:nonsense mutation RGD PMID:10560675 RGD:1601413 NCBI chrNW_004624754:23,827,782...23,845,690
Ensembl chrNW_004624754:23,827,706...23,837,356 		JBrowse link
lymphoproliferative syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chrNW_004624733:31,996,717...32,115,571
Ensembl chrNW_004624733:31,996,423...32,115,577 		JBrowse link
G Fndc9 fibronectin type III domain containing 9 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chrNW_004624733:32,034,485...32,040,483
Ensembl chrNW_004624733:32,035,938...32,039,562 		JBrowse link
G Garin3 golgi associated RAB2 interactor family member 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chrNW_004624733:32,218,203...32,249,115
Ensembl chrNW_004624733:32,218,061...32,221,254 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chrNW_004624733:32,284,793...32,310,980 JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chrNW_004624733:32,521,318...32,527,499 JBrowse link
G Itk IL2 inducible T cell kinase ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 OMIM
ClinVar		 PMID:8985255 PMID:9536098 PMID:16199547 PMID:16860760 PMID:17412921 More... NCBI chrNW_004624733:32,125,005...32,198,901
Ensembl chrNW_004624733:32,127,388...32,198,869 		JBrowse link
G Med7 mediator complex subunit 7 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chrNW_004624733:32,256,067...32,260,501
Ensembl chrNW_004624733:32,256,116...32,259,792 		JBrowse link
G Nipal4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chrNW_004624733:31,945,996...31,960,187
Ensembl chrNW_004624733:31,948,414...31,959,894 		JBrowse link
G Sgcd sarcoglycan delta ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chrNW_004624733:32,654,754...33,626,227
Ensembl chrNW_004624733:32,663,025...33,080,608 		JBrowse link
G Timd4 T cell immunoglobulin and mucin domain containing 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chrNW_004624733:32,381,189...32,482,874 JBrowse link
lymphoproliferative syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,338,478...3,353,373
Ensembl chrNW_004624860:3,338,690...3,352,396 		JBrowse link
G Acsm4 acyl-CoA synthetase medium chain family member 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624782:6,862,210...6,885,556
Ensembl chrNW_004624782:6,862,648...6,885,450 		JBrowse link
G Aicda activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Akap3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,684,474...1,701,307
Ensembl chrNW_004624860:1,684,433...1,701,736 		JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:2,531,196...2,835,248
Ensembl chrNW_004624860:2,531,904...2,854,862 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:4,938,001...4,957,640
Ensembl chrNW_004624860:4,938,001...4,957,236 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,564,741...3,577,889
Ensembl chrNW_004624860:3,571,254...3,577,400 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,675,926...3,684,598
Ensembl chrNW_004624860:3,676,252...3,684,406 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,686,866...3,693,293
Ensembl chrNW_004624860:3,687,500...3,692,872 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,658,272...3,667,717
Ensembl chrNW_004624860:3,659,341...3,671,142 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:5,196,621...5,204,686
Ensembl chrNW_004624860:5,197,619...5,199,043 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22197273 PMID:22801960 More... NCBI chrNW_004624860:3,199,493...3,203,683 JBrowse link
G Cd4 CD4 molecule ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,470,886...3,492,247
Ensembl chrNW_004624860:3,470,631...3,492,846 		JBrowse link
G Cd9 CD9 molecule ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,027,126...3,055,974
Ensembl chrNW_004624860:3,027,029...3,056,798 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,516,244...3,519,107
Ensembl chrNW_004624860:3,515,411...3,518,828 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,285,086...3,318,939
Ensembl chrNW_004624860:3,283,837...3,318,985 		JBrowse link
G Clec4e C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:4,108,782...4,113,693
Ensembl chrNW_004624860:4,108,640...4,113,839 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,710,121...3,737,617
Ensembl chrNW_004624860:3,709,139...3,738,221 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,422,033...3,427,610
Ensembl chrNW_004624860:3,421,910...3,428,823 		JBrowse link
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,578,147...3,580,059
Ensembl chrNW_004624860:3,578,336...3,580,059 		JBrowse link
G Dppa3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:4,974,941...4,978,295 JBrowse link
G Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,674,136...1,683,350 JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,605,114...3,611,108
Ensembl chrNW_004624860:3,605,126...3,611,108 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,553,936...3,561,343
Ensembl chrNW_004624860:3,553,947...3,564,294 		JBrowse link
G Ferry3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,592,889...1,627,298
Ensembl chrNW_004624860:1,593,318...1,625,422 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,478,712...1,486,808
Ensembl chrNW_004624860:1,479,303...1,486,323 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,539,964...1,551,363
Ensembl chrNW_004624860:1,539,989...1,551,372 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:5,176,301...5,195,715
Ensembl chrNW_004624860:5,176,257...5,195,682 		JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,757,201...1,806,854 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,257,805...3,261,736
Ensembl chrNW_004624860:3,257,853...3,261,735 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:4,968,624...4,970,362 JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,509,185...3,515,025
Ensembl chrNW_004624860:3,509,397...3,515,352 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,492,761...3,497,896
Ensembl chrNW_004624860:3,493,075...3,498,374 		JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,262,205...3,273,859
Ensembl chrNW_004624860:3,262,205...3,273,867 		JBrowse link
G Ing4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,353,443...3,362,541
Ensembl chrNW_004624860:3,353,489...3,362,430 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,915,108...1,923,071
Ensembl chrNW_004624860:1,915,344...1,923,062 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:2,042,325...2,045,953
Ensembl chrNW_004624860:2,039,771...2,045,867 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,835,679...1,867,606
Ensembl chrNW_004624860:1,835,685...1,867,104 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,454,587...3,461,649
Ensembl chrNW_004624860:3,456,347...3,461,592 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,327,847...3,337,851
Ensembl chrNW_004624860:3,327,936...3,328,928 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,611,300...3,642,682
Ensembl chrNW_004624860:3,611,300...3,642,686 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,547,199...3,553,763
Ensembl chrNW_004624860:3,547,179...3,553,849 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,152,041...3,158,690
Ensembl chrNW_004624860:3,152,517...3,162,848 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:4,877,811...4,891,149
Ensembl chrNW_004624860:4,881,981...4,888,527 		JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,437,286...3,441,332
Ensembl chrNW_004624860:3,437,136...3,441,455 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,228,155...3,229,037
Ensembl chrNW_004624860:3,228,155...3,229,036 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:5,026,203...5,037,219 JBrowse link
G Ncapd2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,229,091...3,256,631
Ensembl chrNW_004624860:3,230,577...3,256,407 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,703,972...1,729,185
Ensembl chrNW_004624860:1,703,244...1,728,779 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:5,224,170...5,237,235
Ensembl chrNW_004624860:5,223,610...5,237,451 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,273,944...3,284,150 JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:2,416,448...2,479,216
Ensembl chrNW_004624860:2,416,503...2,479,225 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,498,493...3,508,999
Ensembl chrNW_004624860:3,498,547...3,508,682 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,771,949...3,790,982
Ensembl chrNW_004624860:3,771,963...3,790,985 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,599,435...3,605,016
Ensembl chrNW_004624860:3,599,687...3,604,872 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,396,105...3,417,986
Ensembl chrNW_004624860:3,396,237...3,400,909 		JBrowse link
G Plekhg6 pleckstrin homology and RhoGEF domain containing G6 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,097,697...3,111,159 JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,450,504...3,454,494
Ensembl chrNW_004624860:3,450,661...3,454,018 		JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,580,225...3,595,403
Ensembl chrNW_004624860:3,580,560...3,595,090 		JBrowse link
G Rad51ap1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,627,606...1,643,569
Ensembl chrNW_004624860:1,627,765...1,643,667 		JBrowse link
G Rbp5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,705,210...3,709,179
Ensembl chrNW_004624860:3,705,210...3,709,055 		JBrowse link
G Rimklb ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:4,811,449...4,861,470
Ensembl chrNW_004624860:4,811,449...4,844,431 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,123,676...3,152,217
Ensembl chrNW_004624860:3,126,379...3,145,043 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:5,069,246...5,153,435 JBrowse link
G Tapbpl TAP binding protein like ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,203,683...3,211,901
Ensembl chrNW_004624860:3,205,093...3,211,584 		JBrowse link
G Tigar TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:1,416,419...1,455,953
Ensembl chrNW_004624860:1,417,131...1,457,717 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,533,226...3,536,786
Ensembl chrNW_004624860:3,533,320...3,539,755 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,519,106...3,532,690
Ensembl chrNW_004624860:3,519,113...3,532,687 		JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,212,549...3,219,354
Ensembl chrNW_004624860:3,213,474...3,219,359 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:2,843,268...2,973,888
Ensembl chrNW_004624860:2,858,088...2,973,052 		JBrowse link
G Znf384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624860:3,365,103...3,389,907
Ensembl chrNW_004624860:3,365,339...3,389,346 		JBrowse link
Lymphoproliferative Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd70 CD70 molecule ISO ClinVar Annotator: match by term: LYMPHOPROLIFERATIVE SYNDROME 3 OMIM
ClinVar		 PMID:28011863 PMID:28011864 NCBI chrNW_004624828:3,720,808...3,724,337 JBrowse link
Macrophage Activation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il18 interleukin 18 ISO associated with Arthritis, Juvenile;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Nlrc4 NLR family CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217959 NCBI chrNW_004624738:13,836,678...13,863,881
Ensembl chrNW_004624738:13,836,717...13,873,783 		JBrowse link
G Prf1 perforin 1 ISO associated with Arthritis, Juvenile Rheumatoid;DNA:missense mutation:cds:p.A91V (human) RGD PMID:20019066 RGD:6482811 NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627 		JBrowse link
malignant histiocytic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO MouseDO NCBI chrNW_004624748:6,305,821...6,355,511
Ensembl chrNW_004624748:6,311,636...6,355,591 		JBrowse link
mantle cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23676220 NCBI chrNW_004624760:7,684,098...7,693,051
Ensembl chrNW_004624760:7,684,109...7,693,405 		JBrowse link
G Arhgap29 Rho GTPase activating protein 29 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17488656 NCBI chrNW_004624742:3,410,123...3,495,300 JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Mantle cell lymphoma ClinVar PMID:10706620 PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G Btk Bruton tyrosine kinase treatment ISO RGD PMID:23045577 RGD:11040699 NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chrNW_004624730:65,877,175...65,949,099
Ensembl chrNW_004624730:65,882,486...65,949,464 		JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:bone marrow, peripheral blood (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22383795 PMID:24060591 PMID:26174628 RGD:11352827 NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191 		JBrowse link
G Cd79b CD79b molecule treatment ISO protein:decreased expression:blood, B cell (human)
human cells in mouse model		 RGD PMID:10329919 PMID:17374736 RGD:11531139 RGD:151665154 NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Mantle cell lymphoma ClinVar PMID:10706620 PMID:28492532 NCBI chrNW_004624784:3,083,664...3,144,017
Ensembl chrNW_004624784:3,084,385...3,145,517 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17148679 NCBI chrNW_004624780:5,543,117...5,561,285
Ensembl chrNW_004624780:5,543,117...5,561,261 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chrNW_004624731:28,178,647...28,368,784
Ensembl chrNW_004624731:28,178,628...28,366,420 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17148679 NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23676220 NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Wnt10a Wnt family member 10A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chrNW_004624823:6,126,238...6,140,764
Ensembl chrNW_004624823:6,128,256...6,140,235 		JBrowse link
marginal zone lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10 immune signaling adaptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor disease_progression ISO RGD PMID:15231650 RGD:1581305 NCBI chrNW_004624742:5,260,651...5,271,908
Ensembl chrNW_004624742:5,261,537...5,270,695 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human) RGD PMID:16234023 RGD:5147794 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 OMIM
ClinVar		 PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649 		JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM
ClinVar		 PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chrNW_004624737:3,835,788...3,874,360 JBrowse link
monoclonal gammopathy of uncertain significance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO MouseDO NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
G Nefh neurofilament heavy chain ISO associated with Peripheral Nervous System Diseases RGD PMID:12536221 RGD:9693726 NCBI chrNW_004624747:5,806,576...5,816,158
Ensembl chrNW_004624747:5,806,645...5,815,554 		JBrowse link
multicentric Castleman disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar PMID:16804045 PMID:25741868 PMID:28492532 PMID:36572623 NCBI chrNW_004624891:3,135,824...3,330,487
Ensembl chrNW_004624891:3,138,848...3,329,459 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chrNW_004624816:6,329,888...6,521,535
Ensembl chrNW_004624816:6,332,612...6,521,535 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chrNW_004624794:10,023,229...10,046,128
Ensembl chrNW_004624794:10,023,492...10,045,820 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar PMID:25741868 NCBI chrNW_004624828:5,489,085...5,511,166
Ensembl chrNW_004624828:5,488,814...5,511,445 		JBrowse link
G Mpeg1 macrophage expressed 1 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chrNW_004624864:1,470,862...1,474,957
Ensembl chrNW_004624864:1,470,887...1,473,046 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
multiple myeloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased activity:serum RGD PMID:22345095 RGD:11038914 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17096887 RGD:11035276 NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chrNW_004624849:3,257,460...3,280,870
Ensembl chrNW_004624849:3,257,459...3,280,245 		JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chrNW_004624907:1,752,322...1,755,308 JBrowse link
G Arid4a AT-rich interaction domain 4A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624884:3,360,461...3,434,622 JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G Aurka aurora kinase A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624790:143,818...162,065
Ensembl chrNW_004624790:147,149...161,344 		JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:26619011 NCBI chrNW_004624804:11,514,728...11,521,625 JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624765:1,354,511...1,419,364
Ensembl chrNW_004624765:1,351,273...1,422,587 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Bcl2l1 BCL2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12429644 PMID:14656874 RGD:11353847 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507 		JBrowse link
G Bcl2l10 BCL2 like 10 ISO protein:increased expression:bone marrow : RGD PMID:27455953 RGD:14392808 NCBI chrNW_004624731:8,399,936...8,403,904 JBrowse link
G Bcorl1 BCL6 corepressor like 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624797:9,211,625...9,283,435
Ensembl chrNW_004624797:9,240,209...9,282,020 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chrNW_004624737:14,848,355...14,863,731
Ensembl chrNW_004624737:14,848,350...14,862,965 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 More... NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 More... NCBI chrNW_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993 		JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chrNW_004624750:14,526,750...14,529,336
Ensembl chrNW_004624750:14,526,384...14,533,049 		JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA:decreased expression:mononuclear cell: RGD PMID:23948411 RGD:11038794 NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Cbx7 chromobox 7 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.113+3502C>T (human) (rs877529)		 CTD
RGD		 PMID:23955597 RGD:11352716 NCBI chrNW_004624752:9,133,587...9,151,216
Ensembl chrNW_004624752:9,133,569...9,151,934 		JBrowse link
G Ccn1 cellular communication network factor 1 exacerbates ISO mRNA, protein:increased expression:bone marrow (human)
mRNA,protein:increased expression:bone marrow (human)		 RGD PMID:25061178 PMID:28035364 RGD:329845528 RGD:329845546 NCBI chrNW_004624742:11,882,815...11,885,686
Ensembl chrNW_004624742:11,882,907...11,885,667 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO OMIM
ClinVar		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191 		JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15755896 RGD:1581171 NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107 		JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:15755896 RGD:1581171 NCBI chrNW_004624754:17,148,108...17,194,626
Ensembl chrNW_004624754:17,148,076...17,194,000 		JBrowse link
G Cd40 CD40 molecule treatment ISO human cells in a mouse model RGD PMID:10866315 RGD:11522720 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cd40lg CD40 ligand treatment
disease_progression		 ISO protein:increased expression:serum (human) RGD PMID:15565183 PMID:22403003 PMID:27243341 RGD:11352240 RGD:11352251 RGD:11352268 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chrNW_004624807:4,040,639...4,074,631 JBrowse link
G Cd86 CD86 molecule severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:bone marrow, plasma cell (human)		 CTD
RGD		 PMID:16611307 PMID:22705596 RGD:11354971 NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712 		JBrowse link
G Cdk4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chrNW_004624802:10,191,679...10,194,585
Ensembl chrNW_004624802:10,191,014...10,194,275 		JBrowse link
G Cdkn2c cyclin dependent kinase inhibitor 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624859:2,092,622...2,097,628
Ensembl chrNW_004624859:2,091,734...2,097,659 		JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16930142 RGD:4892645 NCBI chrNW_004624807:7,655,777...7,664,484
Ensembl chrNW_004624807:7,655,620...7,662,362 		JBrowse link
G Crbn cereblon ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624773:13,383,697...13,406,892
Ensembl chrNW_004624773:13,384,383...13,407,191 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7540856 PMID:8104070 PMID:8555506 NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7534716 PMID:7540856 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624757:5,895,912...5,953,485 JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624751:27,760,665...27,786,403
Ensembl chrNW_004624751:27,760,776...27,785,613 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Dsg2 desmoglein 2 disease_progression ISO RGD PMID:34245117 RGD:401851080 NCBI chrNW_004624770:1,315,021...1,363,472
Ensembl chrNW_004624770:1,313,916...1,364,153 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624829:4,954,390...4,972,934
Ensembl chrNW_004624829:4,957,809...4,973,220 		JBrowse link
G Eng endoglin severity ISO protein:increased expression:serum: RGD PMID:23576184 RGD:11041181 NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		JBrowse link
G Ephx1 epoxide hydrolase 1 no_association
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:rs2234922 (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)		 CTD
RGD		 PMID:16949155 PMID:19736056 PMID:24521996 RGD:11252116 RGD:11252121 RGD:11252122 NCBI chrNW_004624835:6,161,930...6,181,016
Ensembl chrNW_004624835:6,162,111...6,168,714 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO DNA:SNP: :rs735482 (human) RGD PMID:21435719 RGD:10450871 NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit sexual_dimorphism
disease_progression		 ISO DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)
DNA:polymorphism: :p.K751Q (rs13181) (human)		 RGD PMID:17131345 PMID:22183071 RGD:11252199 RGD:401827277 NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624907:499,913...506,719
Ensembl chrNW_004624907:499,883...507,629 		JBrowse link
G Faslg Fas ligand disease_progression ISO RGD PMID:16321857 RGD:11049149 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624769:17,801,796...17,924,685
Ensembl chrNW_004624769:17,801,894...17,925,191 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility
disease_progression		 ISO DNA:polymorphism: :rs1801274(human) RGD PMID:17315188 PMID:25850245 RGD:11040778 RGD:11040938 NCBI chrNW_004624826:23,930...34,735 JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Fgg fibrinogen gamma chain treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chrNW_004624858:5,828,334...5,836,382
Ensembl chrNW_004624858:5,827,316...5,838,170 		JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066 		JBrowse link
G Flt3lg fms related receptor tyrosine kinase 3 ligand disease_progression ISO protein:increased expression:serum: RGD PMID:26521986 RGD:11075232 NCBI chrNW_004624832:4,733,820...4,739,214 JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA:increased expression:bone marrow RGD PMID:34274946 RGD:329901767 NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8599825 RGD:11352777 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Gpx3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993 		JBrowse link
G H1-4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624756:771,688...772,950
Ensembl chrNW_004624756:772,241...772,903 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624847:3,846,196...4,101,537
Ensembl chrNW_004624847:3,845,858...4,101,487 		JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation, haplotype:cds:p.C282Y (human) RGD PMID:10383894 RGD:8694350 NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376 		JBrowse link
G Hk1 hexokinase 1 ISO RGD PMID:19996089 RGD:11353882 NCBI chrNW_004624754:3,594,478...3,656,231
Ensembl chrNW_004624754:3,591,090...3,659,760 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12855565 NCBI chrNW_004624740:14,940,161...14,941,561
Ensembl chrNW_004624740:14,939,445...14,941,819 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:serum: RGD PMID:7686390 PMID:7834632 RGD:11354981 RGD:11520780 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chrNW_004624765:7,806,560...7,825,520 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More... NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO protein:increased expression:serum,urine: RGD PMID:29940770 RGD:14985218 NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151 		JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
protein:increased expression:serum		 RGD PMID:11022130 PMID:11307152 RGD:11041888 RGD:11049458 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)		 RGD PMID:1777241 PMID:17926179 PMID:25469832 RGD:11049156 RGD:11051973 RGD:11059513 NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) RGD PMID:17926179 RGD:11051973 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il1rn interleukin 1 receptor antagonist no_association ISO DNA:snp: :11100C>T (human)
DNA:repeats:intron:		 RGD PMID:10848780 PMID:17926179 RGD:11051973 RGD:11522764 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:SNP: :-228120T>C(rs2107356)(human) RGD PMID:17315188 RGD:11040938 NCBI chrNW_004624782:11,981,781...12,008,362 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8520508 PMID:12855565 PMID:19330649 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624759:19,067,933...19,103,007
Ensembl chrNW_004624759:19,067,856...19,098,859 		JBrowse link
G Irf4 interferon regulatory factor 4 treatment
disease_progression		 ISO CTD Direct Evidence: marker/mechanism
DNA:translocation		 CTD
RGD		 PMID:10557056 PMID:17690696 PMID:18568025 PMID:21707574 RGD:11526161 RGD:11530019 RGD:11530055 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO DNA:hypermethylation RGD PMID:23114132 RGD:329902071 NCBI chrNW_004624746:2,272,385...2,290,400
Ensembl chrNW_004624746:2,272,389...2,290,455 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624909:421,033...455,201
Ensembl chrNW_004624909:420,077...455,309 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More... NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624785:8,356,238...8,405,877
Ensembl chrNW_004624785:8,369,922...8,408,919 		JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis OMIM
ClinVar		 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More... NCBI chrNW_004624793:3,699,394...3,706,591
Ensembl chrNW_004624793:3,699,506...3,706,073 		JBrowse link
G LOC101698338 E3 SUMO-protein ligase RanBP2 ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:19171422 RGD:9835349 NCBI chrNW_004624749:11,862,670...11,923,291
Ensembl chrNW_004624749:11,862,760...11,923,958 		JBrowse link
G LOC101707509 cytochrome P450 1A1 susceptibility ISO DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) RGD PMID:18285692 RGD:11352726 NCBI chrNW_004627988:7...1,323 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911 		JBrowse link
G Maf MAF bZIP transcription factor ISO OMIM:254500 MouseDO NCBI chrNW_004624746:7,653,690...7,672,404 JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chrNW_004624772:18,287,587...18,292,384
Ensembl chrNW_004624772:18,289,509...18,319,033 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M694V(human) RGD PMID:25202401 RGD:11531123 NCBI chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO RGD PMID:11830493 RGD:2317526 NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995 		JBrowse link
G Mettl14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chrNW_004624867:5,508,847...5,533,395
Ensembl chrNW_004624867:5,508,886...5,533,395 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chrNW_004624825:7,513,481...7,527,716
Ensembl chrNW_004624825:7,513,481...7,527,695 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624804:8,796,383...8,957,343
Ensembl chrNW_004624804:8,852,345...8,955,868 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624730:3,802,452...3,818,593
Ensembl chrNW_004624730:3,800,749...3,822,389 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:missense mutations:cds:677C>T, 1298A>C (human) RGD PMID:24839819 RGD:10449397 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:polymorphism: :2756A>G(human) RGD PMID:17655928 RGD:11075095 NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66G>A(human) RGD PMID:17655928 RGD:11075095 NCBI chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:9949172 NCBI chrNW_004624885:2,339,281...2,343,351 JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
G Ncor2 nuclear receptor corepressor 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624747:23,777,645...23,887,804
Ensembl chrNW_004624747:23,777,325...23,865,804 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO DNA:polymorphism RGD PMID:12377412 PMID:16540234 RGD:2298895 RGD:2298898 NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517 		JBrowse link
G Nono non-POU domain containing octamer binding exacerbates ISO mRNA:increased expression: (human) RGD PMID:32410217 RGD:155900765 NCBI chrNW_004624903:1,562,818...1,583,648
Ensembl chrNW_004624903:1,562,743...1,586,985 		JBrowse link
G Notch2 notch receptor 2 ISO protein:increased expression:bone marrow (human) RGD PMID:14726396 RGD:1580763 NCBI chrNW_004624772:15,572,350...15,726,312
Ensembl chrNW_004624772:15,571,998...15,726,426 		JBrowse link
G Nox1 NADPH oxidase 1 ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chrNW_004624902:1,741,921...1,754,932
Ensembl chrNW_004624902:1,736,704...1,755,504 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 no_association ISO DNA:missense mutation:cds:p.P187S (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P187S (609C>T) (human)		 RGD
CTD		 PMID:16949155 PMID:18061666 PMID:18156703 RGD:10755419 RGD:10769348 NCBI chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479 		JBrowse link
G Nras NRAS proto-oncogene, GTPase treatment ISO DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis		 RGD
ClinVar		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... RGD:11535049 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Nuak1 NUAK family kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873845 NCBI chrNW_004624750:3,141,442...3,197,821
Ensembl chrNW_004624750:3,141,441...3,197,514 		JBrowse link
G P2ry8 P2Y receptor family member 8 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624834:686,801...708,251 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21917757 NCBI chrNW_004624807:446,662...478,571
Ensembl chrNW_004624807:446,647...479,069 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624908:1,513,916...1,523,723
Ensembl chrNW_004624908:1,513,969...1,523,295 		JBrowse link
G Pml PML nuclear body scaffold severity ISO protein:increased expression:bone marrow (human) RGD PMID:22906876 RGD:41404686 NCBI chrNW_004624781:464,858...498,146
Ensembl chrNW_004624781:464,658...497,775 		JBrowse link
G Polr1g RNA polymerase I subunit G sexual_dimorphism ISO DNA:SNP:exon 1: p.G-21A (rs967591) (human) RGD PMID:17131345 RGD:401827277 NCBI chrNW_004624907:2,286,040...2,288,533
Ensembl chrNW_004624907:2,286,050...2,288,242 		JBrowse link
G Pon1 paraoxonase 1 treatment
susceptibility
severity		 ISO DNA:missense mutation:cds:p.Q192R (human)
protein:decreased activity:serum (human)		 RGD PMID:15136237 PMID:22348216 PMID:25520116 RGD:10450846 RGD:11040544 RGD:11552578 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO CTD Direct Evidence: marker/mechanism
associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)		 CTD
RGD		 PMID:16179254 PMID:24791872 RGD:11535030 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29158558 NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chrNW_004624754:24,783,528...24,785,397
Ensembl chrNW_004624754:24,783,761...24,785,331 		JBrowse link
G Pthlh parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chrNW_004624778:8,007,358...8,019,538
Ensembl chrNW_004624778:8,008,056...8,019,612 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease exacerbates ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:30622325 RGD:401940173 NCBI chrNW_004624770:9,026,592...9,100,818
Ensembl chrNW_004624770:9,023,392...9,119,183 		JBrowse link
G Rbp1 retinol binding protein 1 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chrNW_004624730:16,091,863...16,119,591
Ensembl chrNW_004624730:16,091,863...16,119,591 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:28492532 NCBI chrNW_004624735:12,345,326...12,351,783
Ensembl chrNW_004624735:12,345,844...12,351,637 		JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chrNW_004624874:4,234,640...5,359,333
Ensembl chrNW_004624874:4,949,538...5,357,690 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:splice variant RGD PMID:12560229 RGD:6482834 NCBI chrNW_004624745:22,921,180...23,158,250
Ensembl chrNW_004624745:22,921,120...23,157,876 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624760:2,379,809...2,455,749
Ensembl chrNW_004624760:2,380,708...2,456,928 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624842:2,591,016...2,649,746
Ensembl chrNW_004624842:2,591,148...2,647,742 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624942:508,035...641,349
Ensembl chrNW_004624942:507,605...641,585 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624747:20,729,142...20,759,631
Ensembl chrNW_004624747:20,730,751...20,759,625 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15908783 RGD:1581238 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Sparc secreted protein acidic and cysteine rich disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:hypermethylation: :		 CTD
RGD		 PMID:18172295 PMID:23699600 RGD:11073605 NCBI chrNW_004624733:37,348,993...37,369,804
Ensembl chrNW_004624733:37,338,284...37,369,804 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16208410 RGD:1581367 NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624749:29,371,674...29,494,785
Ensembl chrNW_004624749:29,371,682...29,493,031 		JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:21654517 RGD:11062101 NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550 		JBrowse link
G Tgfb1 transforming growth factor beta 1 disease_progression ISO DNA:hypermethylation: :
protein:decreased expression:serum:		 RGD PMID:22560388 PMID:23699600 RGD:11073605 RGD:11073614 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tnf tumor necrosis factor treatment
no_association		 ISO DNA:SNP:promoter:-238G>A (human)
DNA:SNP:promoter:-308G>A (human)		 RGD PMID:12200397 PMID:12815949 RGD:10449450 RGD:10449453 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593 		JBrowse link
G Tnfrsf17 TNF receptor superfamily member 17 ISO RGD PMID:15692072 RGD:2317306 NCBI chrNW_004624782:6,337,914...6,375,242
Ensembl chrNW_004624782:6,338,087...6,341,090 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522 		JBrowse link
G Tp53 tumor protein p53 disease_progression
treatment		 ISO DNA:polymorphism:cds:p.R72P(human)
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
protein:increased expression:nucleus:
DNA:deletion: :		 RGD
ClinVar		 PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 More... RGD:11073716 RGD:11073728 RGD:11075073 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624773:13,363,449...13,382,789
Ensembl chrNW_004624773:13,362,983...13,395,086 		JBrowse link
G Tyms thymidylate synthetase treatment
no_association		 ISO DNA:polymorphism: :
DNA:repeats:5'UTR:		 RGD PMID:17512053 PMID:17655928 RGD:11075094 RGD:11075095 NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600 		JBrowse link
G Ulk4 unc-51 like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120009 NCBI chrNW_004624730:77,495,705...77,876,547
Ensembl chrNW_004624730:77,495,747...77,875,622 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) RGD PMID:24687381 RGD:11079182 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chrNW_004624738:13,116,317...13,180,935
Ensembl chrNW_004624738:13,115,982...13,181,352 		JBrowse link
G Xpo5 exportin 5 severity ISO DNA:snp:3' utr:c.*659A>C (rs11077) (human) RGD PMID:22539802 RGD:11041735 NCBI chrNW_004624754:16,083,356...16,124,682
Ensembl chrNW_004624754:16,083,407...16,123,407 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 disease_progression ISO DNA:SNP,haplotype:: p.T241M (rs861535) (Human) RGD PMID:17131345 RGD:401827277 NCBI chrNW_004624734:1,216,641...1,223,860
Ensembl chrNW_004624734:1,217,549...1,223,280 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:17901044 RGD:8698655 NCBI chrNW_004624743:3,299,329...3,549,182
Ensembl chrNW_004624743:3,317,351...3,552,161 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chrNW_004624878:621,214...776,363 JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chrNW_004624741:28,918,466...28,933,593
Ensembl chrNW_004624741:28,917,942...28,933,599 		JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chrNW_004624734:3,846,753...3,875,294
Ensembl chrNW_004624734:3,846,765...3,875,294 		JBrowse link
mycosis fungoides term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin disease_progression ISO RGD PMID:23702390 RGD:8923490 NCBI chrNW_004624758:22,431,331...22,444,185
Ensembl chrNW_004624758:22,426,918...22,444,357 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis, dermis (human) RGD PMID:24127318 RGD:8695934 NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*03 (human) RGD PMID:15761416 RGD:7483574 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:skin: RGD PMID:20833513 RGD:8547521 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710 		JBrowse link
nasal type extranodal NK/T-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 molecule disease_progression ISO associated with Epstein-Barr Virus Infections RGD PMID:27595782 RGD:41412182 NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814 		JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15924153 NCBI chrNW_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989 		JBrowse link
G Fas Fas cell surface death receptor ISO DNA:insertion, deletions:cds:multiple (human) RGD PMID:12466128 RGD:8662407 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment ISO associated with ethmoid sinus cancer and Neoplasm Metastasis RGD PMID:29496492 RGD:151708712 NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993 		JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705984 PMID:23689514 NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
G Prdm1 PR/SET domain 1 disease_progression ISO RGD PMID:24438193 RGD:150530467 NCBI chrNW_004624780:16,205,056...16,227,382
Ensembl chrNW_004624780:16,204,838...16,227,390 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased expression:nasal cavity (human) RGD PMID:17225522 RGD:153298933 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
NATURAL KILLER CELL ENTEROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624786:10,769,797...10,775,142
Ensembl chrNW_004624786:10,765,610...10,775,112 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624907:76,236...106,765
Ensembl chrNW_004624907:77,806...106,228 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar PMID:28492532 NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624907:458,447...486,482
Ensembl chrNW_004624907:454,948...486,565 		JBrowse link
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624823:767,347...854,065
Ensembl chrNW_004624823:766,780...852,727 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624765:3,612,781...4,742,219
Ensembl chrNW_004624765:3,613,379...4,734,585 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624730:15,226,786...15,399,097
Ensembl chrNW_004624730:15,226,379...15,355,857 		JBrowse link
G Ptprs protein tyrosine phosphatase receptor type S ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624828:4,688,555...4,764,805
Ensembl chrNW_004624828:4,716,249...4,764,614 		JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624744:783...63,720 JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624731:4,098,137...4,170,889
Ensembl chrNW_004624731:4,098,091...4,172,555 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719 		JBrowse link
Niemann-Pick disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO protein:increased expression:cerebellum: RGD PMID:20883783 RGD:8693571 NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO DNA:mutation:multiple RGD
MouseDO		 PMID:11567215 RGD:1601483 NCBI chrNW_004624734:27,166,867...27,177,229
Ensembl chrNW_004624734:27,166,880...27,177,229 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 susceptibility ISO Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple
ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency		 RGD
ClinVar		 PMID:1391960 PMID:1885770 PMID:2023926 PMID:8053910 PMID:12369017 More... RGD:1601336 NCBI chrNW_004624817:7,909,777...7,913,419
Ensembl chrNW_004624817:7,909,468...7,913,417 		JBrowse link
Niemann-Pick disease type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chrNW_004624817:7,913,541...7,937,945
Ensembl chrNW_004624817:7,909,468...7,936,487 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor type 1 disease_progression ISO protein:decreased expression:cerebellum (mouse) RGD PMID:16277603 RGD:6482797 NCBI chrNW_004624773:14,856,803...15,193,173
Ensembl chrNW_004624773:14,856,804...15,193,168 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis OMIM
ClinVar		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chrNW_004624817:7,909,777...7,913,419
Ensembl chrNW_004624817:7,909,468...7,913,417 		JBrowse link
Niemann-Pick disease type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chrNW_004624817:7,913,541...7,937,945
Ensembl chrNW_004624817:7,909,468...7,936,487 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis OMIM
ClinVar		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chrNW_004624817:7,909,777...7,913,419
Ensembl chrNW_004624817:7,909,468...7,913,417 		JBrowse link
Niemann-Pick disease type C1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd3 abhydrolase domain containing 3, phospholipase ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004624770:10,073,462...10,126,062
Ensembl chrNW_004624770:10,073,444...10,113,235 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:18591368 RGD:10047095 NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491 		JBrowse link
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 More... NCBI chrNW_004624734:26,612,509...26,638,491
Ensembl chrNW_004624734:26,619,100...26,638,714 		JBrowse link
G Ankrd29 ankyrin repeat domain 29 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004624770:8,527,081...8,585,678
Ensembl chrNW_004624770:8,527,140...8,583,154 		JBrowse link
G Cables1 Cdk5 and Abl enzyme substrate 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004624770:8,837,425...8,937,106
Ensembl chrNW_004624770:8,837,220...8,935,886 		JBrowse link
G Esco1 establishment of sister chromatid cohesion N-acetyltransferase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004624770:10,153,506...10,219,745 JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004624770:10,223,131...10,471,309
Ensembl chrNW_004624770:10,225,669...10,345,173 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004624770:8,237,085...8,482,770 JBrowse link
G Lipa lipase A, lysosomal acid type ISO CTD Direct Evidence: therapeutic CTD PMID:20557099 NCBI chrNW_004624737:49,471...82,981
Ensembl chrNW_004624737:49,371...83,514 		JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004624770:9,936,202...10,051,018
Ensembl chrNW_004624770:9,941,706...10,051,024 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form
ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form		 OMIM
ClinVar		 PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 More... NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:11125141 PMID:11333381 PMID:11567215 PMID:12955717 PMID:15465422 More... NCBI chrNW_004624734:27,166,867...27,177,229
Ensembl chrNW_004624734:27,166,880...27,177,229 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004624770:9,026,592...9,100,818
Ensembl chrNW_004624770:9,023,392...9,119,183 		JBrowse link
G Riok3 RIO kinase 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004624770:8,675,501...8,696,999
Ensembl chrNW_004624770:8,675,294...8,697,620 		JBrowse link
G Rmc1 regulator of MON1-CCZ1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:25741868 PMID:28492532 NCBI chrNW_004624770:8,641,752...8,662,248
Ensembl chrNW_004624770:8,641,791...8,662,285 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:12369017 PMID:15221801 PMID:25741868 PMID:26499107 PMID:27243974 More... NCBI chrNW_004624817:7,909,777...7,913,419
Ensembl chrNW_004624817:7,909,468...7,913,417 		JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004624770:10,134,623...10,147,342
Ensembl chrNW_004624770:10,135,425...10,147,298 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Syndig1l synapse differentiation inducing 1 like ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:25741868 NCBI chrNW_004624734:27,221,110...27,242,657
Ensembl chrNW_004624734:27,221,116...27,241,879 		JBrowse link
G Tmem241 transmembrane protein 241 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004624770:8,706,531...8,814,972
Ensembl chrNW_004624770:8,706,558...8,814,972 		JBrowse link
Niemann-Pick disease type C2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 More... NCBI chrNW_004624734:26,612,509...26,638,491
Ensembl chrNW_004624734:26,619,100...26,638,714 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:25741868 NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 OMIM
ClinVar		 PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 More... NCBI chrNW_004624734:27,166,867...27,177,229
Ensembl chrNW_004624734:27,166,880...27,177,229 		JBrowse link
Niemann-Pick Disease Type D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type D OMIM
ClinVar		 PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 More... NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843 		JBrowse link
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral ClinVar PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 More... NCBI chrNW_004624817:7,909,777...7,913,419
Ensembl chrNW_004624817:7,909,468...7,913,417 		JBrowse link
non-Hodgkin lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa7 annexin A7 ISO protein:decreased expression:lymph node RGD PMID:17708571 RGD:2292654 NCBI chrNW_004624754:6,992,436...7,022,419 JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:22693999 PMID:26619011 NCBI chrNW_004624804:11,514,728...11,521,625 JBrowse link
G Bcl10 BCL10 immune signaling adaptor ISO OMIM NCBI chrNW_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:3287162 PMID:26239085 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Bcl6 BCL6 transcription repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25543051 NCBI chrNW_004624730:69,145,035...69,167,583
Ensembl chrNW_004624730:69,154,080...69,167,689 		JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17119116 NCBI chrNW_004624869:3,618,895...3,639,621
Ensembl chrNW_004624869:3,617,948...3,642,860 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:12068308 PMID:12460918 PMID:12460919 PMID:12960123 PMID:14612909 More... NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Casp10 caspase 10 ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma OMIM
ClinVar		 PMID:11973654 PMID:12010812 NCBI chrNW_004624889:31,132...63,774 JBrowse link
G Cbs cystathionine beta-synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17119116 NCBI chrNW_004624745:27,676,430...27,687,573
Ensembl chrNW_004624745:27,673,748...27,688,462 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO DNA:snp:exon:c.870G>A (human) RGD PMID:25169547 RGD:11353786 NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191 		JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:19636010 RGD:11522746 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cd79b CD79b molecule treatment ISO human cells in mouse model RGD PMID:19633198 RGD:151665149 NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26506619 NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7680712 PMID:11486401 PMID:11732872 NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11911406 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:polymorphism:exon:49G>A(human) RGD PMID:15114591 RGD:11352244 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism		 CTD
RGD		 PMID:11406608 RGD:1601063 NCBI chrNW_004624835:6,161,930...6,181,016
Ensembl chrNW_004624835:6,162,111...6,168,714 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:23023262 PMID:24563539 PMID:26619011 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa disease_progression ISO RGD PMID:25850245 RGD:11040778 NCBI chrNW_004624826:23,930...34,735 JBrowse link
G Fpgs folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17119116 NCBI chrNW_004624760:7,735,606...7,754,750
Ensembl chrNW_004624760:7,735,613...7,754,994 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:25016003 RGD:11352765 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:7686390 RGD:11520780 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO protein:increased expression:serum: RGD PMID:29940770 RGD:14985218 NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO DNA:rearrangements RGD PMID:8361504 RGD:1625285 NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077 		JBrowse link
G LOC101722366 cytochrome P450 2E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406608 NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514 		JBrowse link
G Lrrc41 leucine rich repeat containing 41 ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar NCBI chrNW_004624906:2,193,881...2,231,424
Ensembl chrNW_004624906:2,191,934...2,217,347 		JBrowse link
G Malt1 MALT1 paracaspase ISO RGD PMID:12560219 RGD:1599912 NCBI chrNW_004624792:4,148,258...4,223,431
Ensembl chrNW_004624792:4,148,453...4,217,548 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:23444215 PMID:25157968 PMID:26619011 NCBI chrNW_004624781:6,222,365...6,285,398
Ensembl chrNW_004624781:6,222,365...6,285,531 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17488658 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G(human) RGD PMID:15159311 RGD:11531140 NCBI chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657 		JBrowse link
G Mtss1 MTSS I-BAR domain containing 1 ISO OMIM:605027 MouseDO NCBI chrNW_004624735:30,512,474...30,659,727
Ensembl chrNW_004624735:30,512,464...30,659,718 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:25157968 PMID:26619011 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861 NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutation:cds:p.Q192R (human) RGD PMID:12139735 RGD:11553822 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Lymphoma, Non-Hodgkin, Familial | ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial OMIM
ClinVar		 PMID:1156555 PMID:10583959 PMID:14757862 PMID:16860143 PMID:17873118 More... NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627 		JBrowse link
G Rad54b RAD54 homolog B ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma OMIM
ClinVar		 PMID:10362364 PMID:28492532 NCBI chrNW_004624763:1,773,943...1,878,032
Ensembl chrNW_004624763:1,773,725...1,878,641 		JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma OMIM
ClinVar		 PMID:10362365 PMID:25741868 NCBI chrNW_004624906:2,164,711...2,194,262
Ensembl chrNW_004624906:2,165,780...2,193,764 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:26619011 NCBI chrNW_004624730:3,316,122...3,361,820 JBrowse link
G S1pr2 sphingosine-1-phosphate receptor 2 ISO OMIM:605027 MouseDO NCBI chrNW_004624828:2,371,750...2,419,330
Ensembl chrNW_004624828:2,390,742...2,394,106 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17119116 NCBI chrNW_004624849:3,108,875...3,146,669
Ensembl chrNW_004624849:3,114,876...3,146,248 		JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550 		JBrowse link
G Tmem260 transmembrane protein 260 disease_progression ISO DNA:SNP: 3'UTR:rs4901706 (human) RGD PMID:24831772 RGD:155882447 NCBI chrNW_004624884:1,606,197...1,663,752
Ensembl chrNW_004624884:1,606,199...1,663,749 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:960674 PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 More... NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16365025 NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600 		JBrowse link
non-Langerhans-cell histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prf1 perforin 1 ISO DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553 RGD PMID:11179007 RGD:1599929 NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P) RGD PMID:12531900 RGD:1601587 NCBI chrNW_004624731:6,315,064...6,355,431
Ensembl chrNW_004624731:6,319,092...6,355,534 		JBrowse link
Noonan Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS | ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 More... NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:25741868 PMID:29394990 NCBI chrNW_004624764:6,874,453...6,891,952 JBrowse link
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder ClinVar PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:29758562 More... NCBI chrNW_004624907:499,913...506,719
Ensembl chrNW_004624907:499,883...507,629 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO DNA:missense mutations:cds:p.D106A, p.F285L (human) RGD PMID:15996221 RGD:11064737 NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS ClinVar PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More... NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO ClinVar Annotator: match by term: Noonan-like disorder ClinVar PMID:25741868 PMID:31024343 NCBI chrNW_004624763:7,722,275...7,723,482 JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair | ClinVar Annotator: match by term: Noonan-like syndrome with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chrNW_004624737:35,318,263...35,401,787
Ensembl chrNW_004624737:35,319,767...35,401,044 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... NCBI chrNW_004624737:35,318,263...35,401,787
Ensembl chrNW_004624737:35,319,767...35,401,044 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More... NCBI chrNW_004624738:10,689,395...10,730,171
Ensembl chrNW_004624738:10,689,152...10,730,171 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
Ocular Onchocerciasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1r1 interleukin 1 receptor type 1 ISO RGD PMID:19168746 RGD:8662882 NCBI chrNW_004624749:6,661,142...6,737,988
Ensembl chrNW_004624749:6,708,522...6,739,871 		JBrowse link
G Tlr4 toll like receptor 4 ISO RGD PMID:11884755 RGD:7794682 NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120 		JBrowse link
onchocerciasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il13 interleukin 13 severity ISO protein:increased expression:serum RGD PMID:22805723 RGD:8549600 NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843 		JBrowse link
G LOC101698463 HLA class II histocompatibility antigen, DP alpha 1 chain ISO RGD PMID:8854084 RGD:6480649 NCBI chrNW_004624754:23,674,935...23,683,044
Ensembl chrNW_004624754:23,674,448...23,683,662 		JBrowse link
paracoccidioidomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd28 CD28 molecule ISO RGD PMID:20713624 RGD:5131616 NCBI chrNW_004624765:12,650,092...12,667,168 JBrowse link
G Cfb complement factor B ISO RGD PMID:7921333 RGD:7421526 NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:17003484 RGD:8547589 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse) RGD PMID:27992577 RGD:39939072 NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474 		JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il1rl1 interleukin 1 receptor like 1 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701 		JBrowse link
G Il33 interleukin 33 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864 		JBrowse link
G Il37 interleukin 37 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chrNW_004624749:12,959,310...12,969,180 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19765107 RGD:8657058 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19765107 RGD:8657058 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A(human) RGD PMID:17145373 RGD:7401182 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chrNW_004624731:4,537,073...4,544,256
Ensembl chrNW_004624731:4,537,089...4,544,256 		JBrowse link
peripheral T-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G B2m beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 NCBI chrNW_004624804:11,514,728...11,521,625 JBrowse link
G Cd28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624765:12,650,092...12,667,168 JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 PMID:24413737 NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 NCBI chrNW_004624933:248,298...456,933
Ensembl chrNW_004624933:389,627...456,520 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 PMID:24413737 NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28659334 NCBI chrNW_004624907:1,713,786...1,739,158
Ensembl chrNW_004624907:1,713,443...1,740,627 		JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO MouseDO NCBI chrNW_004624771:7,837,547...7,948,217 JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 PMID:24413737 NCBI chrNW_004624730:3,316,122...3,361,820 JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 PMID:24413737 NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522 		JBrowse link
plasma cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chrNW_004624751:624,569...647,198 JBrowse link
plasma cell neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:26619011 NCBI chrNW_004624804:11,514,728...11,521,625 JBrowse link
G Bcl2l1 BCL2 like 1 severity ISO RGD PMID:15725478 RGD:11353872 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chrNW_004624765:7,806,560...7,825,520 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More... NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More... NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 More... NCBI chrNW_004624793:3,699,394...3,706,591
Ensembl chrNW_004624793:3,699,506...3,706,073 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 More... NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
plasmacytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase treatment ISO RGD PMID:20404277 RGD:11039454 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Bcl2 BCL2 apoptosis regulator susceptibility ISO human gene in a mouse model RGD PMID:14695177 RGD:11526108 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:26140236 RGD:11049175 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chrNW_004624874:4,234,640...5,359,333
Ensembl chrNW_004624874:4,949,538...5,357,690 		JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:2022919 RGD:10449448 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
primary cutaneous T-cell non-Hodgkin lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Card11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 disease_progression ISO mRNA, protein:increased expression:skin, serum RGD PMID:22048239 RGD:7483601 NCBI chrNW_004624843:2,017,738...2,021,153 JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO mRNA, protein:increased expression:skin RGD PMID:22048239 RGD:7483601 NCBI chrNW_004624785:12,190,802...12,203,924 JBrowse link
G Cd28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 PMID:26258847 NCBI chrNW_004624765:12,650,092...12,667,168 JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B disease_progression ISO DNA:deletion (human) RGD PMID:20118908 RGD:8552306 NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440 		JBrowse link
G Ctcf CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624746:18,705,017...18,760,345
Ensembl chrNW_004624746:18,706,663...18,760,203 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma RGD PMID:16428475 RGD:8655925 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Il4 interleukin 4 ISO mRNA:increased expression:skin RGD PMID:7963654 RGD:7829823 NCBI chrNW_004624733:39,412,800...39,420,079 JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chrNW_004624772:18,287,587...18,292,384
Ensembl chrNW_004624772:18,289,509...18,319,033 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187 		JBrowse link
G Plcg1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624919:1,766,533...1,800,130
Ensembl chrNW_004624919:1,766,149...1,803,097 		JBrowse link
G Prkcq protein kinase C theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624775:1,419,596...1,543,805
Ensembl chrNW_004624775:1,419,509...1,502,064 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624730:3,316,122...3,361,820 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chrNW_004624805:3,964,448...4,044,546
Ensembl chrNW_004624805:3,964,450...4,042,527 		JBrowse link
Primary Lymphedema with Myelodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abtb1 ankyrin repeat and BTB domain containing 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624974:77,137...81,198
Ensembl chrNW_004624974:77,220...80,876 		JBrowse link
G Acad11 acyl-CoA dehydrogenase family member 11 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,704,458...8,792,678
Ensembl chrNW_004624730:8,704,350...8,792,741 		JBrowse link
G Acad9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chrNW_004624781:7,683,025...7,717,427 JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,732,124...8,738,968
Ensembl chrNW_004624730:8,733,586...8,738,961 		JBrowse link
G Acp3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,375,429...8,441,375
Ensembl chrNW_004624730:8,375,258...8,432,302 		JBrowse link
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624912:1,632,469...1,767,885
Ensembl chrNW_004624912:1,632,107...1,768,462 		JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family member L1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:385,583...468,270
Ensembl chrNW_004624773:385,594...468,270 		JBrowse link
G Amotl2 angiomotin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,695,648...10,713,188
Ensembl chrNW_004624730:10,695,138...10,713,808 		JBrowse link
G Anapc13 anaphase promoting complex subunit 13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,805,200...10,811,341
Ensembl chrNW_004624730:10,805,250...10,810,853 		JBrowse link
G Argfx arginine-fifty homeobox ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,589,149...26,590,917 JBrowse link
G Aste1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:6,998,194...7,010,284
Ensembl chrNW_004624730:6,998,274...7,008,828 		JBrowse link
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:6,865,197...7,001,378 JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:9,685,568...9,772,984
Ensembl chrNW_004624730:9,685,568...9,772,984 		JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624912:2,270,467...2,316,998
Ensembl chrNW_004624912:2,269,829...2,317,154 		JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712 		JBrowse link
G Cdv3 CDV3 homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:9,888,328...9,904,516 JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,811,159...10,861,973
Ensembl chrNW_004624730:10,817,662...10,864,664 		JBrowse link
G Cfap100 cilia and flagella associated protein 100 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:149,957...207,015
Ensembl chrNW_004624773:150,205...205,754 		JBrowse link
G Cfap92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624781:7,632,720...7,685,390 JBrowse link
G Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624900:2,500,357...2,752,134
Ensembl chrNW_004624900:2,500,456...2,753,534 		JBrowse link
G Chst13 carbohydrate sulfotransferase 13 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:44,189...68,630
Ensembl chrNW_004624773:43,268...68,365 		JBrowse link
G Cnbp CCHC-type zinc finger nucleic acid binding protein ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624943:943,381...955,997
Ensembl chrNW_004624943:944,900...959,999 		JBrowse link
G Col6a6 collagen type VI alpha 6 chain ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:6,503,509...6,640,223
Ensembl chrNW_004624730:6,503,546...6,639,516 		JBrowse link
G Copg1 COPI coat complex subunit gamma 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:299,625...320,974 JBrowse link
G Cpne4 copine 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:7,546,501...8,079,183
Ensembl chrNW_004624730:7,548,099...7,944,326 		JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:657,771...671,304
Ensembl chrNW_004624912:657,774...671,329 		JBrowse link
G Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:2322343 PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 More... NCBI chrNW_004624961:170,909...171,985 JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,497,781...8,649,058
Ensembl chrNW_004624730:8,517,998...8,648,318 		JBrowse link
G Dtx3l deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:871,024...880,299
Ensembl chrNW_004624912:871,584...880,626 		JBrowse link
G Eaf2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:112,793...168,553
Ensembl chrNW_004624912:112,843...168,553 		JBrowse link
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chrNW_004624961:195,904...414,552
Ensembl chrNW_004624961:196,552...414,545 		JBrowse link
G Efcab12 EF-hand calcium binding domain 12 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:436,644...451,283 JBrowse link
G Efcc1 EF-hand and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624781:7,589,756...7,625,387
Ensembl chrNW_004624781:7,595,408...7,624,733 		JBrowse link
G Ephb1 EPH receptor B1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:11,120,018...11,564,972
Ensembl chrNW_004624730:11,119,909...11,565,293 		JBrowse link
G Fam162a family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:739,804...763,149
Ensembl chrNW_004624912:739,917...762,939 		JBrowse link
G Fbxo40 F-box protein 40 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,561,050...26,579,450
Ensembl chrNW_004624731:26,562,650...26,579,272 		JBrowse link
G Fstl1 follistatin like 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:27,789,671...27,839,267
Ensembl chrNW_004624731:27,790,363...27,841,251 		JBrowse link
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia OMIM
ClinVar		 PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 More... NCBI chrNW_004624961:147,685...155,614
Ensembl chrNW_004624961:143,358...154,003 		JBrowse link
G Golgb1 golgin B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,438,529...26,526,205
Ensembl chrNW_004624731:26,455,126...26,526,316 		JBrowse link
G Gp9 glycoprotein IX platelet ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624781:7,579,824...7,581,516 JBrowse link
G Gtf2e1 general transcription factor IIE subunit 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:27,453,525...27,484,844
Ensembl chrNW_004624731:27,453,531...27,484,819 		JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624912:1,814,906...1,916,584
Ensembl chrNW_004624912:1,814,906...1,917,009 		JBrowse link
G Hcls1 hematopoietic cell-specific Lyn substrate 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,528,163...26,559,108
Ensembl chrNW_004624731:26,528,097...26,560,695 		JBrowse link
G Heg1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:1,015,889...1,092,875
Ensembl chrNW_004624731:1,020,805...1,092,995 		JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:27,549,245...27,604,142
Ensembl chrNW_004624731:27,548,922...27,604,131 		JBrowse link
G Hmces 5-hydroxymethylcytosine binding, ES cell specific ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:344,249...353,577
Ensembl chrNW_004624872:344,262...352,936 		JBrowse link
G Hspbap1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:1,023,981...1,102,153
Ensembl chrNW_004624912:1,023,567...1,100,937 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:462,778...520,217
Ensembl chrNW_004624872:462,916...520,323 		JBrowse link
G Il20rb interleukin 20 receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:13,371,898...13,408,927
Ensembl chrNW_004624730:13,378,478...13,409,676 		JBrowse link
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:269,657...300,537
Ensembl chrNW_004624912:267,185...300,550 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:56,209...112,766
Ensembl chrNW_004624912:56,946...113,438 		JBrowse link
G Isy1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624943:968,193...984,683 JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:804,272...914,204
Ensembl chrNW_004624731:802,854...914,167 		JBrowse link
G Kalrn kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:54,934...756,707
Ensembl chrNW_004624731:121,122...752,942 		JBrowse link
G Kbtbd12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624974:263,569...317,211
Ensembl chrNW_004624974:262,913...317,308 		JBrowse link
G Klf15 KLF transcription factor 15 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:243,599...256,786
Ensembl chrNW_004624773:243,569...257,531 		JBrowse link
G Kpna1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:772,420...822,580 JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,908,558...10,955,497
Ensembl chrNW_004624730:10,908,923...10,955,472 		JBrowse link
G LOC101700059 histone H1oo ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:533,877...539,770 JBrowse link
G LOC101719398 serotransferrin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,078,165...10,109,349 JBrowse link
G Mbd4 methyl-CpG binding domain 4, DNA glycosylase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:453,303...462,661
Ensembl chrNW_004624872:451,118...462,509 		JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624974:85,513...169,904
Ensembl chrNW_004624974:87,600...170,228 		JBrowse link
G Mix23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:696,488...739,862
Ensembl chrNW_004624912:694,859...727,275 		JBrowse link
G Mrpl3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:7,470,673...7,509,922
Ensembl chrNW_004624730:7,470,590...7,510,028 		JBrowse link
G Msl2 MSL complex subunit 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:12,569,562...12,618,933 JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:943,067...955,989 JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624912:1,952,053...2,213,196
Ensembl chrNW_004624912:1,953,838...2,172,561 		JBrowse link
G Nck1 NCK adaptor protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:13,271,575...13,366,930
Ensembl chrNW_004624730:13,226,315...13,366,661 		JBrowse link
G Ndufb4 NADH:ubiquinone oxidoreductase subunit B4 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:27,634,669...27,641,144
Ensembl chrNW_004624731:27,625,758...27,641,646 		JBrowse link
G Nek11 NIMA related kinase 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:7,010,314...7,343,072
Ensembl chrNW_004624730:7,011,227...7,346,903 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649 		JBrowse link
G Osbpl11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624730:73,322,753...73,390,283
Ensembl chrNW_004624730:73,322,639...73,391,823 		JBrowse link
G Parp14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:969,144...1,022,506
Ensembl chrNW_004624912:969,236...1,023,564 		JBrowse link
G Parp9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:827,112...968,501
Ensembl chrNW_004624912:827,547...859,199 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:12,662,419...12,811,112
Ensembl chrNW_004624730:12,661,777...12,810,991 		JBrowse link
G Pdia5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:1,408,645...1,523,498 JBrowse link
G Pik3r4 phosphoinositide-3-kinase regulatory subunit 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:6,642,195...6,744,480
Ensembl chrNW_004624730:6,642,190...6,744,470 		JBrowse link
G Plxna1 plexin A1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624900:2,779,008...2,825,263
Ensembl chrNW_004624900:2,784,106...2,825,360 		JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:542,776...571,019
Ensembl chrNW_004624872:543,553...571,019 		JBrowse link
G Podxl2 podocalyxin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624974:43,578...76,918
Ensembl chrNW_004624974:43,335...76,837 		JBrowse link
G Polq DNA polymerase theta ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,649,606...26,808,098
Ensembl chrNW_004624731:26,649,727...26,807,222 		JBrowse link
G Ppp2r3a protein phosphatase 2 regulatory subunit B''alpha ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:12,384,691...12,568,115
Ensembl chrNW_004624730:12,429,902...12,567,683 		JBrowse link
G Prr23e PRR23 family member E ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624936:1,295,099...1,295,893 JBrowse link
G Rab43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624943:991,802...1,024,434
Ensembl chrNW_004624943:991,682...1,024,434 		JBrowse link
G Rab6b RAB6B, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,134,215...10,197,534
Ensembl chrNW_004624730:10,133,949...10,197,551 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chrNW_004625042:56,509...112,519
Ensembl chrNW_004625042:56,517...112,612 		JBrowse link
G Rabl3 RAB, member of RAS oncogene family like 3 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:27,484,856...27,537,365
Ensembl chrNW_004624731:27,484,497...27,535,436 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:523,892...528,278
Ensembl chrNW_004624872:523,912...527,615 		JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624912:2,324,166...2,351,147
Ensembl chrNW_004624912:2,324,406...2,351,181 		JBrowse link
G Rpn1 ribophorin I ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chrNW_004624961:9,482...45,569
Ensembl chrNW_004624961:9,488...45,975 		JBrowse link
G Ruvbl1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chrNW_004624961:427,836...460,887 JBrowse link
G Ryk receptor like tyrosine kinase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,462,590...10,568,780 JBrowse link
G Sec22a SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:1,531,620...1,628,265 JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chrNW_004624961:466,234...477,880
Ensembl chrNW_004624961:467,656...477,884 		JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:1,244,801...1,370,253
Ensembl chrNW_004624912:1,244,801...1,280,609 		JBrowse link
G Slc12a8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:1,114,079...1,259,832
Ensembl chrNW_004624731:1,113,489...1,259,344 		JBrowse link
G Slc15a2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:180,048...222,909
Ensembl chrNW_004624912:179,969...222,909 		JBrowse link
G Slc35g2 solute carrier family 35 member G2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:13,226,369...13,261,239
Ensembl chrNW_004624730:13,234,213...13,261,175 		JBrowse link
G Slc41a3 solute carrier family 41 member 3 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:480,486...534,985
Ensembl chrNW_004624773:480,471...534,378 		JBrowse link
G Slc49a4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:1,102,252...1,212,569
Ensembl chrNW_004624912:1,102,279...1,212,569 		JBrowse link
G Slco2a1 solute carrier organic anion transporter family member 2A1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,256,799...10,339,388
Ensembl chrNW_004624730:10,256,799...10,339,827 		JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:1,522,467...1,585,793
Ensembl chrNW_004624731:1,522,098...1,586,066 		JBrowse link
G Srprb SRP receptor subunit beta ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:10,114,870...10,131,833
Ensembl chrNW_004624730:10,114,281...10,133,794 		JBrowse link
G Stag1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:12,762,099...13,158,603
Ensembl chrNW_004624730:12,761,460...13,086,965 		JBrowse link
G Stxbp5l syntaxin binding protein 5L ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624731:26,815,873...27,305,344
Ensembl chrNW_004624731:26,820,018...27,305,447 		JBrowse link
G Tmcc1 transmembrane and coiled-coil domain family 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:588,941...688,352
Ensembl chrNW_004624872:588,370...688,311 		JBrowse link
G Tmem108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:9,314,308...9,683,324
Ensembl chrNW_004624730:9,522,166...9,683,365 		JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:9,916,717...9,994,666
Ensembl chrNW_004624730:9,914,140...9,994,775 		JBrowse link
G Tpra1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624961:505,299...519,071
Ensembl chrNW_004624961:502,736...519,353 		JBrowse link
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004624872:866,370...868,624
Ensembl chrNW_004624872:866,365...868,739 		JBrowse link
G Uba5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004624730:8,791,691...8,819,957
Ensembl chrNW_004624730:8,792,854...8,867,707 		JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:761,235...780,355
Ensembl chrNW_004624731:761,210...779,321 		JBrowse link
G Uroc1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:72,871...107,686
Ensembl chrNW_004624773:72,847...107,686 		JBrowse link
G Wdr5b WD repeat domain 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004624912:762,893...766,690
Ensembl chrNW_004624912:764,076...766,647 		JBrowse link
G Znf148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624731:1,271,478...1,410,047
Ensembl chrNW_004624731:1,278,242...1,354,063 		JBrowse link
G Zxdc ZXD family zinc finger C ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004624773:110,812...149,806
Ensembl chrNW_004624773:111,050...148,196 		JBrowse link
pulmonary sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:10410539 RGD:5128856 NCBI chrNW_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:16315781 RGD:4891110 NCBI chrNW_004624766:17,281,882...17,330,601
Ensembl chrNW_004624766:17,279,630...17,330,490 		JBrowse link
G C3 complement C3 ISO protein:altered expression:lung RGD PMID:18069416 RGD:5129502 NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO mRNA, protein:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chrNW_004624736:39,088,741...39,090,745
Ensembl chrNW_004624736:39,088,921...39,090,394 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:lung:bronchoalveolar lavage cell (human) RGD PMID:10384061 RGD:4891436 NCBI chrNW_004624875:3,334,136...3,342,085
Ensembl chrNW_004624875:3,334,078...3,341,614 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO mRNA:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chrNW_004624795:2,777,766...2,787,664
Ensembl chrNW_004624795:2,779,627...2,788,897 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO DNA:mutations:whole blood : RGD PMID:20722470 RGD:4139905 NCBI chrNW_004624827:1,704,733...1,893,579 JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:15763444 RGD:4892634 NCBI chrNW_004624807:7,655,777...7,664,484
Ensembl chrNW_004624807:7,655,620...7,662,362 		JBrowse link
G Crp C-reactive protein severity ISO RGD PMID:21086905 RGD:5131289 NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9834133 PMID:17550373 RGD:5135438 RGD:5135492 NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910 		JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO protein:increased expression:serum RGD PMID:17550373 RGD:5135438 NCBI chrNW_004624757:14,952,966...14,954,343
Ensembl chrNW_004624757:14,952,851...14,954,905 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum, respiratory system fluid/secretion RGD PMID:17550373 RGD:5135438 NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:increased expression:respiratory system fluid/secretion, T cell RGD PMID:9834133 RGD:5135492 NCBI chrNW_004624903:1,958,323...1,961,789
Ensembl chrNW_004624903:1,958,698...1,961,763 		JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chrNW_004624861:4,710,687...4,718,867 JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:lung (human) RGD PMID:16933469 RGD:5131899 NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:sputum RGD PMID:19453654 RGD:4145349 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum
protein:increased expression:bronchoalveolar lavage fluid 		RGD PMID:11174201 PMID:16734560 RGD:4889823 RGD:4889863 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Il18r1 interleukin 18 receptor 1 severity ISO RGD PMID:14641797 RGD:5024944 NCBI chrNW_004624749:6,875,934...6,909,702
Ensembl chrNW_004624749:6,875,750...6,909,734 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:8239179 RGD:4143198 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G LOC101717043 cytochrome b-245 light chain no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chrNW_004624746:911,852...919,361
Ensembl chrNW_004624746:911,842...919,362 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:SNP:intron: RGD PMID:15713215 RGD:4143248 NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:14665489 RGD:5131177 NCBI chrNW_004624885:2,339,281...2,343,351 JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:16315781 PMID:21059230 RGD:4891110 RGD:5144061 NCBI chrNW_004624772:11,009,765...11,070,050
Ensembl chrNW_004624772:11,010,845...11,070,017 		JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 disease_progression ISO DNA:polymorphism:exon:2104C>T (human) RGD PMID:19679608 RGD:4892066 NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:lung RGD PMID:11789718 RGD:4891449 NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO protein:increased expression:lung RGD PMID:2255800 RGD:4892566 NCBI chrNW_004624774:2,496,276...2,603,894
Ensembl chrNW_004624774:2,495,304...2,602,632 		JBrowse link
G Ntf3 neurotrophin 3 disease_progression ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:16315781 PMID:21059230 RGD:4891110 RGD:5144061 NCBI chrNW_004624860:2,416,448...2,479,216
Ensembl chrNW_004624860:2,416,503...2,479,225 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression: : RGD PMID:16315781 RGD:4891110 NCBI chrNW_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577 		JBrowse link
G Tgfb1 transforming growth factor beta 1 severity ISO DNA:polymorphisms: :-509C>T (human) RGD PMID:17785866 RGD:4145294 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tlr2 toll like receptor 2 ISO mRNA:decreased expression:alveolar macrophage RGD PMID:20813038 PMID:23668840 RGD:4145301 RGD:8553184 NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833 		JBrowse link
G Tnc tenascin C ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9780295 RGD:4889595 NCBI chrNW_004624760:20,044,900...20,137,260
Ensembl chrNW_004624760:20,044,826...20,137,616 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:15653992 PMID:20070603 RGD:4143236 RGD:4143466 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:21508170 RGD:5131275 NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20442436 RGD:5685623 NCBI chrNW_004624785:5,466,429...5,487,763
Ensembl chrNW_004624785:5,468,563...5,488,143 		JBrowse link
Pyogenic Granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Pyogenic granuloma ClinVar PMID:25741868 NCBI chrNW_004624772:10,358,554...10,369,371 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
renal-hepatic-pancreatic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia ClinVar PMID:25741868 NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649 		JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 OMIM
ClinVar		 PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649 		JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA related kinase 8 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 OMIM
ClinVar		 PMID:19550299 PMID:23418306 PMID:25741868 PMID:25741876 PMID:26697755 More... NCBI chrNW_004624786:1,303,283...1,314,188
Ensembl chrNW_004624786:1,303,308...1,314,188 		JBrowse link
Respiratory Tract Granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl1 C-C motif chemokine ligand 1 ISO associated with Schistosomiasis mansoni RGD PMID:12600821 RGD:4145441 NCBI chrNW_004624875:2,224,784...2,229,465 JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO RGD PMID:15466387 RGD:4145515 NCBI chrNW_004624746:28,655,288...28,657,563
Ensembl chrNW_004624746:28,655,801...28,657,470 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO associated with Schistosomiasis mansoni
associated with Mycobacterium Infections		 RGD PMID:12600821 PMID:15466387 RGD:4145441 RGD:4145515 NCBI chrNW_004624746:28,694,879...28,700,711
Ensembl chrNW_004624746:28,694,735...28,700,827 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:21273392 RGD:5683877 NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:21273392 RGD:5683877 NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893 		JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:10857756 RGD:8549624 NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10673208 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Tlr3 toll like receptor 3 ISO RGD PMID:19009529 RGD:5129133 NCBI chrNW_004624769:16,925,969...16,945,250
Ensembl chrNW_004624769:16,925,984...16,941,196 		JBrowse link
retinitis pigmentosa with or without situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2bp ARF like GTPase 2 binding protein ISO ClinVar Annotator: match by term: ARL2BP-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23849777 PMID:25741868 PMID:27790702 More... NCBI chrNW_004624746:28,798,870...28,805,988 JBrowse link
right atrial isomerism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISO OMIM:208530 MouseDO NCBI chrNW_004624731:2,557,993...2,600,250
Ensembl chrNW_004624731:2,566,063...2,600,035 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Right atrial isomerism ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Right atrial isomerism ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chrNW_004624908:1,935,525...1,937,012
Ensembl chrNW_004624908:1,935,539...1,936,953 		JBrowse link
G Upf1 UPF1 RNA helicase and ATPase ISO ClinVar Annotator: match by term: Right atrial isomerism ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chrNW_004624908:1,909,995...1,935,370
Ensembl chrNW_004624908:1,910,315...1,933,655 		JBrowse link
salivary gland adenoid cystic carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:25885343 RGD:25330345 NCBI chrNW_004624769:21,399,747...21,617,753 JBrowse link
G Xrcc4 X-ray repair cross complementing 4 susceptibility ISO DNA:SNP:intron: (rs13180356) (human) RGD PMID:26035306 RGD:151361290 NCBI chrNW_004624743:3,299,329...3,549,182
Ensembl chrNW_004624743:3,317,351...3,552,161 		JBrowse link
sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity
disease_progression		 ISO DNA:SNP, insertion/deletion, repeat:enhancer, intron 16, 3' utr:
DNA:SNP:enhancer:
protein:increased activity:serum (human)
DNA:insertion/deletion:intron 16:		 RGD PMID:183595 PMID:6287584 PMID:11168787 PMID:18496980 PMID:29229112 RGD:11039025 RGD:40400721 RGD:40400722 RGD:40400746 RGD:40400908 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Agtr1 angiotensin II receptor type 1 no_association ISO DNA:polymorphism: :1166A>C (human) RGD PMID:20560294 PMID:21319597 RGD:5129164 RGD:5129165 NCBI chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463 		JBrowse link
G Anxa11 annexin A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165924 NCBI chrNW_004624754:12,463,883...12,506,604
Ensembl chrNW_004624754:12,463,864...12,507,185 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO protein:increased expression:serum RGD PMID:17949965 RGD:4145494 NCBI chrNW_004624746:28,655,288...28,657,563
Ensembl chrNW_004624746:28,655,801...28,657,470 		JBrowse link
G Cd14 CD14 molecule susceptibility ISO protein:increased expression:serum
DNA:polymorphism:promoter:c. -159C>T (human)		 RGD PMID:20430603 RGD:4144780 NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO mRNA:increased expression:skin: RGD PMID:12885947 RGD:8662819 NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885 		JBrowse link
G Cfh complement factor H susceptibility ISO DNA:SNP:cds:p.Y402H(human) RGD PMID:23497844 RGD:7365014 NCBI chrNW_004624798:3,332,549...3,414,435 JBrowse link
G Cma1 chymase 1 ISO DNA:snp:5' utr:g.-526C>T (human) RGD PMID:16446531 RGD:5128561 NCBI chrNW_004624820:8,021,965...8,024,763
Ensembl chrNW_004624820:8,021,959...8,024,851 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:polymorphism:exon (human) RGD PMID:14620161 RGD:4891520 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Il18 interleukin 18 disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma		 CTD
RGD		 PMID:16100009 PMID:17015003 RGD:4889815 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human) RGD PMID:21846945 RGD:8549545 NCBI chrNW_004624742:27,899,934...27,954,145
Ensembl chrNW_004624742:27,901,071...27,941,109 		JBrowse link
G LOC101697345 HLA class II histocompatibility antigen, DP beta 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8909942 PMID:14508706 PMID:17956852 NCBI chrNW_004624754:23,661,031...23,672,549
Ensembl chrNW_004624754:23,658,339...23,672,663 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphisms: :HLA-DQBl*O603, DQB1*0604(human) RGD PMID:9659531 RGD:36174017 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G Prdx5 peroxiredoxin 5 ISO protein:increased expression:alveolus of lung (human) RGD PMID:22837380 RGD:41404683 NCBI chrNW_004624767:21,995,542...21,998,609
Ensembl chrNW_004624767:21,995,681...21,997,149 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:SNP: :8473 T > C (human)
protein:decreased expression:lung:		 RGD PMID:14511257 PMID:19042116 RGD:5135505 RGD:5135507 NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728 		JBrowse link
G Sftpd surfactant protein D ISO associated with Uveitis;protein:increased expression:serum RGD PMID:20151281 RGD:4143491 NCBI chrNW_004624841:6,917,067...6,938,594
Ensembl chrNW_004624841:6,916,849...6,936,077 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:repeat, SNP:promoter, intron (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16597321 PMID:22160516 RGD:5684925 NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10673208 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785866 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
Schnitzler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO RGD PMID:1831824 RGD:7794711 NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:16096327 RGD:11522758 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
sea-blue histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis OMIM
ClinVar		 PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 More... NCBI chrNW_004624907:1,752,322...1,755,308 JBrowse link
Sezary's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Bcl10 BCL10 immune signaling adaptor ISO ClinVar Annotator: match by term: Sezary syndrome ClinVar PMID:9989495 NCBI chrNW_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Brd9 bromodomain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624751:421,945...439,146
Ensembl chrNW_004624751:421,154...439,544 		JBrowse link
G Card11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 PMID:26551670 NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chrNW_004624788:10,965,226...10,974,215
Ensembl chrNW_004624788:10,966,207...10,971,180 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chrNW_004624903:1,402,586...1,406,554
Ensembl chrNW_004624903:1,402,481...1,406,600 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757 		JBrowse link
G Plcg1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chrNW_004624919:1,766,533...1,800,130
Ensembl chrNW_004624919:1,766,149...1,803,097 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624791:11,334,146...12,656,480
Ensembl chrNW_004624791:11,338,510...12,654,812 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249 		JBrowse link
G Rps6ka1 ribosomal protein S6 kinase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chrNW_004624764:10,527,012...10,566,625
Ensembl chrNW_004624764:10,526,948...10,569,910 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16403914 RGD:8661723 NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 PMID:26551670 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chrNW_004624805:3,964,448...4,044,546
Ensembl chrNW_004624805:3,964,450...4,042,527 		JBrowse link
Sinus Histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chrNW_004624754:5,296,083...5,330,445
Ensembl chrNW_004624754:5,296,173...5,329,778 		JBrowse link
situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:9916847 NCBI chrNW_004624731:2,557,993...2,600,250
Ensembl chrNW_004624731:2,566,063...2,600,035 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793029 NCBI chrNW_004624825:2,157,158...2,214,115
Ensembl chrNW_004624825:2,157,158...2,212,971 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:21131972 PMID:23255504 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:58,436,427...58,471,926
Ensembl chrNW_004624730:58,436,469...58,471,799 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chrNW_004624801:9,160,852...9,217,033
Ensembl chrNW_004624801:9,160,805...9,217,756 		JBrowse link
G Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chrNW_004624752:3,426,317...3,537,219
Ensembl chrNW_004624752:3,425,901...3,535,400 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:17924340 PMID:20413652 PMID:28492532 PMID:32144877 NCBI chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760 		JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chrNW_004624745:20,862,313...20,877,188
Ensembl chrNW_004624745:20,862,538...20,876,646 		JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chrNW_004624878:801,173...830,479
Ensembl chrNW_004624878:801,132...830,574 		JBrowse link
G Cfap46 cilia and flagella associated protein 46 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chrNW_004624737:13,897,146...14,021,257
Ensembl chrNW_004624737:13,897,221...14,015,533 		JBrowse link
G Cfap52 cilia and flagella associated protein 52 ISO ClinVar Annotator: match by term: Situs inversus | ClinVar Annotator: match by term: Situs inversus totalis ClinVar PMID:16199547 PMID:25469542 PMID:25741868 PMID:28492532 PMID:33139725 NCBI chrNW_004624786:11,992,545...12,050,112
Ensembl chrNW_004624786:11,992,553...12,050,220 		JBrowse link
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:25741868 NCBI chrNW_004624778:13,841,227...13,891,946
Ensembl chrNW_004624778:13,839,310...13,891,714 		JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:25741868 NCBI chrNW_004624901:534,828...538,923
Ensembl chrNW_004624901:535,137...538,384 		JBrowse link
G Dnaaf1 dynein axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:16199547 PMID:19944400 PMID:19944405 PMID:24033266 PMID:25158045 More... NCBI chrNW_004624746:3,412,888...3,441,710 JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:25741868 More... NCBI chrNW_004624735:23,269,253...23,355,832
Ensembl chrNW_004624735:23,269,414...23,355,968 		JBrowse link
G Dnah5 dynein axonemal heavy chain 5 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:11788826 PMID:16627867 PMID:19357118 PMID:25186273 PMID:25741868 More... NCBI chrNW_004624751:10,799,102...11,110,180
Ensembl chrNW_004624751:10,799,892...11,050,403 		JBrowse link
G Dnah6 dynein axonemal heavy chain 6 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chrNW_004624749:18,267,959...18,516,919
Ensembl chrNW_004624749:18,268,110...18,506,625 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:17924340 PMID:20413652 PMID:28492532 PMID:32144877 NCBI chrNW_004624908:1,935,525...1,937,012
Ensembl chrNW_004624908:1,935,539...1,936,953 		JBrowse link
G Nme7 NME/NM23 family member 7 susceptibility ISO RGD PMID:20080492 RGD:155630601 NCBI chrNW_004624826:7,077,885...7,300,398
Ensembl chrNW_004624826:7,078,140...7,258,997 		JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Situs inversus ClinVar PMID:19553149 PMID:25741868 NCBI chrNW_004624754:4,557,407...4,564,580
Ensembl chrNW_004624754:4,557,952...4,564,644 		JBrowse link
G Nphp3 nephrocystin 3 ISO RGD PMID:18371931 RGD:11352488 NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649 		JBrowse link
G Odad4 outer dynein arm docking complex subunit 4 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chrNW_004624795:1,861,985...1,876,766
Ensembl chrNW_004624795:1,861,991...1,876,737 		JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting susceptibility ISO ClinVar Annotator: match by term: Laterality sequence | ClinVar Annotator: match by term: Situs inversus ClinVar
RGD		 PMID:20080492 PMID:25741868 PMID:27272319 PMID:27616478 PMID:30664273 More... RGD:155630601 NCBI chrNW_004624740:5,619,253...5,703,032 JBrowse link
G Zic3 Zic family member 3 ISO X-linked visceral heterotaxy, OMIM:306955 RGD PMID:9354794 RGD:1599909 NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093 		JBrowse link
spleen cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ramp2 receptor activity modifying protein 2 ameliorates ISO RGD PMID:31754214 RGD:152985691 NCBI chrNW_004624795:1,435,121...1,436,421 JBrowse link
splenic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20961953 NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973 		JBrowse link
G Tlx1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7908720 NCBI chrNW_004624831:710,787...717,367
Ensembl chrNW_004624831:710,389...717,339 		JBrowse link
splenic marginal zone lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO protein:decreased expression:blood, B cell (human) RGD PMID:10329919 RGD:11531139 NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
Splenic Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26558449 NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
Subcutaneous Panniculitis-like T-Cell Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Havcr2 hepatitis A virus cellular receptor 2 ISO ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma ClinVar
OMIM		 PMID:25741868 PMID:30429576 PMID:30792187 NCBI chrNW_004624733:32,521,318...32,527,499 JBrowse link
T-cell acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator ISO ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia ClinVar PMID:9531611 NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506 		JBrowse link
G Bcl10 BCL10 immune signaling adaptor ISO ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia ClinVar PMID:9989495 NCBI chrNW_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759 		JBrowse link
G Bcl11b BCL11 transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20972433 NCBI chrNW_004624734:4,560,362...4,649,219
Ensembl chrNW_004624734:4,560,699...4,647,858 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:23471820 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Card11 caspase recruitment domain family member 11 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25384343 RGD:11100039 NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981 		JBrowse link
G Ccnd3 cyclin D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671688 NCBI chrNW_004624754:17,148,108...17,194,626
Ensembl chrNW_004624754:17,148,076...17,194,000 		JBrowse link
G Cnot3 CCR4-NOT transcription complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23263491 NCBI chrNW_004624832:2,429,809...2,441,886
Ensembl chrNW_004624832:2,429,809...2,441,869 		JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia ClinVar PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 More... NCBI chrNW_004624764:19,356,848...19,396,209
Ensembl chrNW_004624764:19,356,361...19,367,860 		JBrowse link
G Ctcf CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671688 NCBI chrNW_004624746:18,705,017...18,760,345
Ensembl chrNW_004624746:18,706,663...18,760,203 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:26931577 RGD:11352292 NCBI chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha susceptibility
disease_progression		 ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human)
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
DNA:mutations: :		 RGD
ClinVar		 PMID:23341344 PMID:26072070 RGD:11041131 RGD:9589073 NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO RGD PMID:22431509 RGD:10755340 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 PMID:24394663 NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO MouseDO NCBI chrNW_004624754:22,888,052...22,900,685
Ensembl chrNW_004624754:22,892,226...22,898,807 		JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21892159 NCBI chrNW_004624759:19,067,933...19,103,007
Ensembl chrNW_004624759:19,067,856...19,098,859 		JBrowse link
G Jak1 Janus kinase 1 ISO DNA:missense mutation: :c.1972G>T (p.V658F) (human) RGD PMID:18559588 RGD:18936996 NCBI chrNW_004624742:29,631,391...29,723,981
Ensembl chrNW_004624742:29,689,965...29,723,981 		JBrowse link
G Jak3 Janus kinase 3 ISO RGD PMID:25193870 RGD:11531122 NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:missense mutation: :p.G12D (mouse) RGD PMID:23673656 RGD:11060136 NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Lmo1 LIM domain only 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2034676 PMID:3259177 PMID:19246562 NCBI chrNW_004624766:393,017...431,118
Ensembl chrNW_004624766:392,953...431,015 		JBrowse link
G Lmo2 LIM domain only 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2034676 PMID:19246562 PMID:24394663 NCBI chrNW_004624767:13,245,783...13,257,322
Ensembl chrNW_004624767:13,245,984...13,257,440 		JBrowse link
G Lyl1 LYL1 basic helix-loop-helix family member ISO OMIM NCBI chrNW_004624901:645,263...648,550
Ensembl chrNW_004624901:645,924...649,100 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435759 PMID:28671688 NCBI chrNW_004624886:2,455,704...2,489,593 JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671688 NCBI chrNW_004624865:780,163...785,776 JBrowse link
G Nbn nibrin ISO MouseDO NCBI chrNW_004624744:2,013,936...2,061,726
Ensembl chrNW_004624744:2,013,922...2,061,708 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia ClinVar NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO DNA:translocation:cds: (human) RGD PMID:10477737 RGD:9693698 NCBI chrNW_004624817:5,125,658...5,245,453
Ensembl chrNW_004624817:5,123,977...5,245,286 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO RGD PMID:24486648 RGD:11075087 NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810 		JBrowse link
G Phf6 PHD finger protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228800 NCBI chrNW_004624797:14,081,381...14,140,180
Ensembl chrNW_004624797:14,081,302...14,128,487 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia ClinVar PMID:11992261 PMID:12161469 PMID:15240615 PMID:16358218 PMID:17020470 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Ptpn2 protein tyrosine phosphatase non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20473312 NCBI chrNW_004624770:19,808,400...19,877,494
Ensembl chrNW_004624770:19,808,400...19,876,503 		JBrowse link
G Rpl10 ribosomal protein L10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23263491 NCBI chrNW_004624946:860,639...863,636 JBrowse link
G Rpl11 ribosomal protein L11 ISO DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human) RGD PMID:23377281 RGD:11535972 NCBI chrNW_004624764:8,258,656...8,262,842
Ensembl chrNW_004624764:8,258,709...8,266,016 		JBrowse link
G Rpl5 ribosomal protein L5 ISO DNA:snps, insertion, deletion:cds:multiple (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:23263491 RGD:11535135 NCBI chrNW_004624742:4,973,229...4,983,361 JBrowse link
G Runx1 RUNX family transcription factor 1 disease_progression ISO RGD PMID:21828118 RGD:11251708 NCBI chrNW_004624745:22,921,180...23,158,250
Ensembl chrNW_004624745:22,921,120...23,157,876 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671688 NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968 		JBrowse link
G Spi1 Spi-1 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671687 NCBI chrNW_004624767:1,376,649...1,404,382
Ensembl chrNW_004624767:1,394,704...1,404,406 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23471820 NCBI chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 PMID:24394663 NCBI chrNW_004624859:5,586,489...5,601,225
Ensembl chrNW_004624859:5,586,977...5,601,460 		JBrowse link
G Tcl1a TCL1 family AKT coactivator A ISO mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:10077617 RGD:1599360 NCBI chrNW_004624734:8,111,655...8,116,084 JBrowse link
G Tlx1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20972433 NCBI chrNW_004624831:710,787...717,367
Ensembl chrNW_004624831:710,389...717,339 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23471820 NCBI chrNW_004624828:2,499,811...2,518,817
Ensembl chrNW_004624828:2,500,339...2,517,694 		JBrowse link
G Zfp36l2 ZFP36 ring finger protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671688 NCBI chrNW_004624738:24,743,388...24,747,572
Ensembl chrNW_004624738:24,744,213...24,747,591 		JBrowse link
T-cell adult acute lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntn2 contactin 2 ISO MouseDO NCBI chrNW_004624807:6,052,591...6,080,421
Ensembl chrNW_004624807:6,056,339...6,073,588 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO MouseDO NCBI chrNW_004624732:44,097,348...44,226,701
Ensembl chrNW_004624732:44,101,613...44,139,997 		JBrowse link
T-Cell Lymphoma 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcl1a TCL1 family AKT coactivator A ISO OMIM NCBI chrNW_004624734:8,111,655...8,116,084 JBrowse link
T-cell non-Hodgkin lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase ISO RGD PMID:20357822 RGD:11039456 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25658812 NCBI chrNW_004624734:507,880...525,295
Ensembl chrNW_004624734:509,368...525,295 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chrNW_004624779:8,099,434...8,270,812
Ensembl chrNW_004624779:8,144,474...8,271,269 		JBrowse link
G Bcl6 BCL6 transcription repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15375218 NCBI chrNW_004624730:69,145,035...69,167,583
Ensembl chrNW_004624730:69,154,080...69,167,689 		JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chrNW_004624752:9,133,587...9,151,216
Ensembl chrNW_004624752:9,133,569...9,151,934 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO RGD PMID:16462758 PMID:20369488 RGD:8547768 RGD:8662844 NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885 		JBrowse link
G Ddx3x DEAD-box helicase 3 X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chrNW_004624762:14,290,267...14,305,437
Ensembl chrNW_004624762:14,290,267...14,305,633 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:17420284 RGD:5131859 NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO RGD PMID:19506298 RGD:11352666 NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
G Ier3 immediate early response 3 ISO human gene in a mouse model RGD PMID:14534530 RGD:1331843 NCBI chrNW_004624754:24,991,650...24,992,645
Ensembl chrNW_004624754:24,991,690...24,992,643 		JBrowse link
G Il13 interleukin 13 ISO RGD PMID:19951958 RGD:8549563 NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 treatment ISO RGD PMID:19951958 RGD:8549563 NCBI chrNW_004624940:825,368...842,268
Ensembl chrNW_004624940:819,854...842,284 		JBrowse link
G Il17d interleukin 17D severity ISO RGD PMID:31244826 RGD:40903065 NCBI chrNW_004624776:16,924,085...16,941,141
Ensembl chrNW_004624776:16,924,085...16,941,729 		JBrowse link
G Jak3 Janus kinase 3 treatment ISO RGD PMID:24153015 RGD:11531129 NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
G Kdm1a lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chrNW_004624764:7,664,550...7,742,494 JBrowse link
G Kdm2b lysine demethylase 2B ISO DNA:insertions:promoter:multiple (rat) RGD PMID:18250326 RGD:9588252 NCBI chrNW_004624747:21,922,249...22,047,246 JBrowse link
G Kdm4c lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chrNW_004624736:11,254,125...11,711,498
Ensembl chrNW_004624736:11,382,598...11,711,536 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chrNW_004624804:8,796,383...8,957,343
Ensembl chrNW_004624804:8,852,345...8,955,868 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255338 NCBI chrNW_004624956:84,673...207,176
Ensembl chrNW_004624956:83,842...149,481 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24584070 NCBI chrNW_004624730:3,316,122...3,361,820 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Tmem260 transmembrane protein 260 disease_progression ISO DNA:SNP: 3'UTR:rs4901706 (human) RGD PMID:24831772 RGD:155882447 NCBI chrNW_004624884:1,606,197...1,663,752
Ensembl chrNW_004624884:1,606,199...1,663,749 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20369488 PMID:26192917 PMID:29438700 RGD:8547768 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
T-cell prolymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: T-cell prolymphocytic leukemia ClinVar PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 More... NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: T-cell prolymphocytic leukemia ClinVar PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 More... NCBI chrNW_004624784:3,083,664...3,144,017
Ensembl chrNW_004624784:3,084,385...3,145,517 		JBrowse link
G Jak3 Janus kinase 3 ISO DNA:missense mutations:exon:pM511I, p.R657Q (human) RGD PMID:24446122 RGD:11531125 NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522 		JBrowse link
Takao VCF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome ClinVar PMID:14585638 PMID:15703190 PMID:17273972 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
testicular lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myd88 MYD88 innate immune signal transduction adaptor ISO associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human) RGD PMID:28868954 RGD:150524335 NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
Thymic Epithelial Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtf2i general transcription factor IIi ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chrNW_004624740:13,446,811...13,547,050
Ensembl chrNW_004624740:13,445,872...13,547,056 		JBrowse link
thymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO associated with Myasthenia Gravis RGD PMID:20728226 RGD:5148025 NCBI chrNW_004624770:5,581,192...5,593,470
Ensembl chrNW_004624770:5,580,808...5,594,628 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515 		JBrowse link
G Birc2 baculoviral IAP repeat containing 2 ameliorates ISO mRNA:increased expression:thymus (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004624878:476,460...514,637 JBrowse link
G Birc5 baculoviral IAP repeat containing 5 ameliorates ISO mRNA:increased expression:thymus (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004624801:7,727,084...7,735,946
Ensembl chrNW_004624801:7,727,093...7,735,940 		JBrowse link
G Bsg basigin (Ok blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:36574092 NCBI chrNW_004624828:7,913,297...7,920,891
Ensembl chrNW_004624828:7,913,099...7,920,804 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chrNW_004624757:5,895,912...5,953,485 JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human) RGD PMID:24260492 RGD:9589098 NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Thymoma ClinVar PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 More... NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Thymoma ClinVar PMID:7530509 PMID:9438854 PMID:10224103 PMID:10680913 PMID:11276010 More... NCBI chrNW_004624761:14,733,912...14,831,428 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Thymoma ClinVar PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 More... NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911 		JBrowse link
G Naip NLR family apoptosis inhibitory protein ameliorates ISO mRNA:increased expression:thymus (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004624905:437,799...485,774 JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chrNW_004624822:4,529,350...4,666,714
Ensembl chrNW_004624822:4,529,007...4,663,165 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
Thymus Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO RGD PMID:26931321 RGD:11568681 NCBI chrNW_004624786:1,114,305...1,127,787
Ensembl chrNW_004624786:1,114,305...1,127,683 		JBrowse link
Thymus Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28736328 NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10850423 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
tonsil cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:head, neck (human) RGD PMID:31452775 RGD:150520018 NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293 		JBrowse link
tonsil squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 severity ISO associated with human papillomavirus;protein:decreased expression:tumor cells (human) RGD PMID:30061236 RGD:36947883 NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
velocardiofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621 		JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988 		JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:756,298...759,056 JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553 		JBrowse link
G Chrd chordin ISO OMIM:192430 MouseDO NCBI chrNW_004624730:72,201,239...72,209,843
Ensembl chrNW_004624730:72,201,644...72,209,843 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168 		JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341 		JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:905,239...910,562 JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266 		JBrowse link
G Ednra endothelin receptor type A ISO OMIM:192430 MouseDO NCBI chrNW_004624853:6,298,406...6,362,353
Ensembl chrNW_004624853:6,302,751...6,360,089 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191 		JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975 		JBrowse link
G LOC101713307 protein HIRA ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:9...95,643 JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO OMIM:192430 MouseDO NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:488,396...562,084 JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO OMIM:192430 MouseDO NCBI chrNW_004624816:10,087,866...10,185,004
Ensembl chrNW_004624816:10,164,666...10,184,994 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043 		JBrowse link
G Rtl10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:484,995...486,791 JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991 		JBrowse link
G Scarf2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667 		JBrowse link
G Slc7a4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:647,571...686,870 JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 More... NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO OMIM:192430 MouseDO NCBI chrNW_004624745:29,959,237...30,031,074
Ensembl chrNW_004624745:29,961,054...30,031,113 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989 		JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:356,794...367,202 JBrowse link
visceral heterotaxy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISO ClinVar Annotator: match by term: Visceral heterotaxy ClinVar PMID:25741868 NCBI chrNW_004624731:2,557,993...2,600,250
Ensembl chrNW_004624731:2,566,063...2,600,035 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624825:2,157,158...2,214,115
Ensembl chrNW_004624825:2,157,158...2,212,971 		JBrowse link
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624747:5,703,647...5,755,344
Ensembl chrNW_004624747:5,704,477...5,755,321 		JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624791:4,732,581...5,057,912 JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:21131972 PMID:23255504 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:58,436,427...58,471,926
Ensembl chrNW_004624730:58,436,469...58,471,799 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chrNW_004624801:9,160,852...9,217,033
Ensembl chrNW_004624801:9,160,805...9,217,756 		JBrowse link
G Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chrNW_004624752:3,426,317...3,537,219
Ensembl chrNW_004624752:3,425,901...3,535,400 		JBrowse link
G Cep290 centrosomal protein 290 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: GDF1-related condition | ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760 		JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chrNW_004624745:20,862,313...20,877,188
Ensembl chrNW_004624745:20,862,538...20,876,646 		JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chrNW_004624878:801,173...830,479
Ensembl chrNW_004624878:801,132...830,574 		JBrowse link
G Cfap46 cilia and flagella associated protein 46 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chrNW_004624737:13,897,146...14,021,257
Ensembl chrNW_004624737:13,897,221...14,015,533 		JBrowse link
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:25741868 NCBI chrNW_004624778:13,841,227...13,891,946
Ensembl chrNW_004624778:13,839,310...13,891,714 		JBrowse link
G Cplane2 ciliogenesis and planar polarity effector complex subunit 2 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624764:2,350,780...2,358,514
Ensembl chrNW_004624764:2,350,780...2,358,495 		JBrowse link
G Cripto cripto, EGF-CFC family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062482 NCBI chrNW_004624730:74,547,226...74,550,526 JBrowse link
G CUNH1orf127 chromosome unknown C1orf127 homolog ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624818:1,799,997...1,826,300
Ensembl chrNW_004624818:1,809,875...1,826,350 		JBrowse link
G CUNH2orf74 chromosome unknown C2orf74 homolog ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624833:746,419...748,845
Ensembl chrNW_004624833:746,124...749,415 		JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:25741868 NCBI chrNW_004624901:534,828...538,923
Ensembl chrNW_004624901:535,137...538,384 		JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624843:2,058,443...2,105,646
Ensembl chrNW_004624843:2,058,330...2,108,045 		JBrowse link
G Dnaaf1 dynein axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:16199547 PMID:19944400 PMID:19944405 PMID:24033266 PMID:25158045 More... NCBI chrNW_004624746:3,412,888...3,441,710 JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:25741868 More... NCBI chrNW_004624735:23,269,253...23,355,832
Ensembl chrNW_004624735:23,269,414...23,355,968 		JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624832:2,081,239...2,087,833
Ensembl chrNW_004624832:2,082,494...2,087,537 		JBrowse link
G Dnah11 dynein axonemal heavy chain 11 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624739:8,810,127...9,136,044
Ensembl chrNW_004624739:8,811,082...9,135,815 		JBrowse link
G Dnah5 dynein axonemal heavy chain 5 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:11788826 PMID:16627867 PMID:19357118 PMID:25186273 PMID:25741868 More... NCBI chrNW_004624751:10,799,102...11,110,180
Ensembl chrNW_004624751:10,799,892...11,050,403 		JBrowse link
G Dnah6 dynein axonemal heavy chain 6 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chrNW_004624749:18,267,959...18,516,919
Ensembl chrNW_004624749:18,268,110...18,506,625 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624736:38,858,918...38,922,092
Ensembl chrNW_004624736:38,859,050...38,922,097 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624738:8,540,863...8,599,386
Ensembl chrNW_004624738:8,541,063...8,599,491 		JBrowse link
G Foxh1 forkhead box H1 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624735:12,384,728...12,388,234
Ensembl chrNW_004624735:12,386,281...12,387,774 		JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Visceral heterotaxy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar Annotator: match by term: GDF1-related condition | ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy		 OMIM
ClinVar		 PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chrNW_004624908:1,935,525...1,937,012
Ensembl chrNW_004624908:1,935,539...1,936,953 		JBrowse link
G Ift74 intraflagellar transport 74 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624736:31,188,963...31,308,872
Ensembl chrNW_004624736:31,188,987...31,306,815 		JBrowse link
G Lefty2 left-right determination factor 2 ISO ClinVar Annotator: match by term: Visceral heterotaxy ClinVar NCBI chrNW_004624807:71,011...75,210 JBrowse link
G Megf8 multiple EGF like domains 8 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624907:397,008...438,091
Ensembl chrNW_004624907:397,008...438,091 		JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO ClinVar Annotator: match by term: Visceral heterotaxy ClinVar PMID:24033266 PMID:25741868 PMID:26437028 NCBI chrNW_004624737:21,395,963...21,402,925
Ensembl chrNW_004624737:21,385,497...21,402,897 		JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Visceral heterotaxy ClinVar PMID:19064609 PMID:25741868 PMID:28492532 NCBI chrNW_004624754:4,557,407...4,564,580
Ensembl chrNW_004624754:4,557,952...4,564,644 		JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624805:6,192,843...6,365,982
Ensembl chrNW_004624805:6,193,217...6,362,776 		JBrowse link
G Odad4 outer dynein arm docking complex subunit 4 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chrNW_004624795:1,861,985...1,876,766
Ensembl chrNW_004624795:1,861,991...1,876,737 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624811:3,453,218...3,862,970 JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy ClinVar PMID:33655537 NCBI chrNW_004624740:5,619,253...5,703,032 JBrowse link
G Psme4 proteasome activator subunit 4 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624833:8,035,768...8,137,655
Ensembl chrNW_004624833:8,035,768...8,137,635 		JBrowse link
G Rfx3 regulatory factor X3 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624736:8,001,078...8,301,856
Ensembl chrNW_004624736:8,003,234...8,161,150 		JBrowse link
G Slit2 slit guidance ligand 2 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624755:11,470,810...11,819,800
Ensembl chrNW_004624755:11,472,377...11,819,266 		JBrowse link
G Tbc1d32 TBC1 domain family member 32 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624798:9,444,536...9,609,957
Ensembl chrNW_004624798:9,444,919...9,609,134 		JBrowse link
G Tmem67 transmembrane protein 67 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071 		JBrowse link
G Upf1 UPF1 RNA helicase and ATPase ISO ClinVar Annotator: match by term: GDF1-related condition ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chrNW_004624908:1,909,995...1,935,370
Ensembl chrNW_004624908:1,910,315...1,933,655 		JBrowse link
G Zic3 Zic family member 3 ISO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093 		JBrowse link
Visceral Heterotaxy 10, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap52 cilia and flagella associated protein 52 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility OMIM
ClinVar		 PMID:25469542 PMID:25741868 PMID:33139725 NCBI chrNW_004624786:11,992,545...12,050,112
Ensembl chrNW_004624786:11,992,553...12,050,220 		JBrowse link
Visceral Heterotaxy 11, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap45 cilia and flagella associated protein 45 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility OMIM
ClinVar		 PMID:33139725 NCBI chrNW_004624794:1,344,107...1,380,069
Ensembl chrNW_004624794:1,352,445...1,379,961 		JBrowse link
Visceral Heterotaxy 4, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa1 acetyl-CoA acyltransferase 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624731:2,665,228...2,677,248
Ensembl chrNW_004624731:2,665,228...2,676,497 		JBrowse link
G Acvr2b activin A receptor type 2B ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal OMIM
ClinVar		 PMID:2049719 PMID:9536098 PMID:9916847 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624731:2,557,993...2,600,250
Ensembl chrNW_004624731:2,566,063...2,600,035 		JBrowse link
G Aprg1 APRG1 tumor suppressor candidate ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624773:20,750,289...20,750,716 JBrowse link
G Ctdspl CTD small phosphatase like ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624773:20,154,468...20,290,975
Ensembl chrNW_004624773:20,158,045...20,290,992 		JBrowse link
G Dlec1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624773:20,029,419...20,089,205
Ensembl chrNW_004624773:20,031,294...20,092,420 		JBrowse link
G Epm2aip1 EPM2A interacting protein 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624788:15,102,663...15,110,354
Ensembl chrNW_004624788:15,108,361...15,110,187 		JBrowse link
G Exog exo/endonuclease G ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624731:2,515,294...2,550,531
Ensembl chrNW_004624731:2,514,513...2,550,617 		JBrowse link
G Golga4 golgin A4 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624890:931,878...938,932 JBrowse link
G Itga9 integrin subunit alpha 9 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624773:20,336,975...20,735,081
Ensembl chrNW_004624773:20,341,335...20,735,189 		JBrowse link
G Lrrfip2 LRR binding FLII interacting protein 2 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624788:15,158,920...15,294,785 JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624788:15,110,436...15,160,462
Ensembl chrNW_004624788:15,110,658...15,160,535 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
G Oxsr1 oxidative stress responsive kinase 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624731:2,703,295...2,825,017
Ensembl chrNW_004624731:2,703,301...2,826,419 		JBrowse link
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:25741868 NCBI chrNW_004624770:18,835,706...19,157,177
Ensembl chrNW_004624770:18,836,899...19,157,114 		JBrowse link
G Plcd1 phospholipase C delta 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624773:20,108,383...20,130,630
Ensembl chrNW_004624773:20,108,004...20,130,630 		JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624731:2,254,445...2,356,174
Ensembl chrNW_004624731:2,254,445...2,355,738 		JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624731:2,065,228...2,203,215 JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624731:2,401,358...2,498,212
Ensembl chrNW_004624731:2,401,380...2,498,211 		JBrowse link
G Slc22a13 solute carrier family 22 member 13 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624773:19,950,353...19,968,029
Ensembl chrNW_004624773:19,950,303...19,962,575 		JBrowse link
G Slc22a14 solute carrier family 22 member 14 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624773:19,964,690...19,980,122
Ensembl chrNW_004624773:19,969,763...19,980,009 		JBrowse link
G Vill villin like ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624773:20,130,853...20,144,417 JBrowse link
G Xylb xylulokinase ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chrNW_004624731:2,616,924...2,658,675
Ensembl chrNW_004624731:2,619,334...2,658,967 		JBrowse link
Visceral Heterotaxy 5, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal ClinVar PMID:12447384 PMID:18579681 PMID:28492532 NCBI chrNW_004624754:4,523,616...4,553,994
Ensembl chrNW_004624754:4,523,661...4,549,936 		JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-related disorder OMIM
ClinVar		 PMID:9354794 PMID:9536098 PMID:12447384 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624754:4,557,407...4,564,580
Ensembl chrNW_004624754:4,557,952...4,564,644 		JBrowse link
G Pald1 phosphatase domain containing paladin 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal ClinVar PMID:28492532 NCBI chrNW_004624754:4,591,504...4,661,195
Ensembl chrNW_004624754:4,605,913...4,661,299 		JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal ClinVar PMID:28492532 NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627 		JBrowse link
Visceral Heterotaxy 6, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22577226 PMID:25504577 PMID:25741868 More... NCBI chrNW_004624778:13,841,227...13,891,946
Ensembl chrNW_004624778:13,839,310...13,891,714 		JBrowse link
Visceral Heterotaxy 7, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp21 matrix metallopeptidase 21 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal | ClinVar Annotator: match by term: MMP21-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26429889 PMID:26437028 PMID:26437029 More... NCBI chrNW_004624737:21,395,963...21,402,925
Ensembl chrNW_004624737:21,385,497...21,402,897 		JBrowse link
Visceral Heterotaxy 8, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal | ClinVar Annotator: match by term: PKD1L1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27616478 PMID:28492532 PMID:30664273 PMID:30791085 More... NCBI chrNW_004624740:5,619,253...5,703,032 JBrowse link
Visceral Heterotaxy 9, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mns1 meiosis specific nuclear structural 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility | ClinVar Annotator: match by term: MNS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30148830 PMID:31534215 NCBI chrNW_004624781:15,292,047...15,337,466
Ensembl chrNW_004624781:15,291,416...15,328,173 		JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility | ClinVar Annotator: match by term: MNS1-related condition ClinVar PMID:25741868 PMID:28492532 PMID:30148830 PMID:31534215 NCBI chrNW_004624781:15,351,709...15,380,461 JBrowse link
visceral leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase ISO RGD PMID:31001826 RGD:32716386 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:blood, T cell RGD PMID:15379987 RGD:6893393 NCBI chrNW_004624730:74,768,668...74,769,749
Ensembl chrNW_004624730:74,768,668...74,769,798 		JBrowse link
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:28355218 RGD:127345133 NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349 		JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:14573667 RGD:8547750 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:14573667 RGD:8547750 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10467834 NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:8035028 PMID:17404324 RGD:10449527 NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO mRNA:increased expression:liver RGD PMID:16239557 RGD:27095947 NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910 		JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 susceptibility
treatment		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:g.-251A>T (human)		 CTD
RGD		 PMID:22461696 PMID:25821028 PMID:32984951 RGD:150523789 RGD:150523791 NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:22461696 PMID:23729024 RGD:42724459 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:1901333 PMID:3104456 PMID:7854095 PMID:27999013 RGD:40890273 RGD:8158041 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990 RGD:14975172 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15716043 NCBI chrNW_004624784:13,386,793...13,399,871
Ensembl chrNW_004624784:13,386,965...13,403,014 		JBrowse link
G Il18 interleukin 18 susceptibility ISO RGD PMID:16879623 RGD:8655922 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17404324 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il27 interleukin 27 ISO mRNA, protein:increased expression:spleen, liver (mouse) RGD PMID:27245409 RGD:126790520 NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta susceptibility ISO DNA:polymorphisms:exon:8777, 8838(human) RGD PMID:17108990 RGD:42724466 NCBI chrNW_004624752:10,662,053...10,682,891
Ensembl chrNW_004624752:10,672,432...10,683,045 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7554475 PMID:17404324 PMID:22461696 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO protein:increased expression:CD4 T cell, nucleus RGD PMID:30067973 PMID:32038622 RGD:40924560 RGD:40924629 NCBI chrNW_004624783:7,267,680...7,275,918
Ensembl chrNW_004624783:7,260,005...7,274,433 		JBrowse link
G Lta lymphotoxin alpha severity ISO DNA:polymorphisms RGD PMID:12438370 PMID:15579454 RGD:8548784 RGD:8548789 NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182 		JBrowse link
G Ltb lymphotoxin beta ISO RGD PMID:12115620 RGD:8548822 NCBI chrNW_004624754:24,618,888...24,620,448 JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression
susceptibility		 ISO DNA:polymorphism:promoter:
protein:increased expression:serum:
DNA:SNPs,haplotype:promoter,exon:		 RGD PMID:17357060 PMID:22995279 PMID:26297290 RGD:11522692 RGD:8693721 RGD:8693726 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:23729024 RGD:42724459 NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment ISO RGD PMID:27999013 RGD:40890273 NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16597321 PMID:17067929 RGD:5684944 NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:24242758 RGD:8661696 NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391 		JBrowse link
G Tlr2 toll like receptor 2 disease_progression ISO RGD PMID:23589575 RGD:15090808 NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833 		JBrowse link
G Tnf tumor necrosis factor severity ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms		 CTD
RGD		 PMID:1901333 PMID:12438370 PMID:15579454 PMID:22461696 RGD:8548784 RGD:8548789 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
X-Linked Acute Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Leukemia, acute, X-linked ClinVar PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 More... NCBI chrNW_004624742:29,631,391...29,723,981
Ensembl chrNW_004624742:29,689,965...29,723,981 		JBrowse link
X-linked agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ameliorates ISO human gene in a mouse model
Human gene in mouse model
ClinVar Annotator: match by term: X-linked agammaglobulinemia		 OMIM
RGD
ClinVar		 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 More... RGD:124713551 RGD:124715475 NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO OMIM:300310 | OMIM:300755 MouseDO NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610 		JBrowse link
X-Linked Hypogammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked ClinVar PMID:8758136 NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452 		JBrowse link
G LOC101715696 cytochrome c oxidase subunit 7B, mitochondrial ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chrNW_004624836:3,063,775...3,069,063 JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 More... NCBI chrNW_004624836:3,076,940...3,144,004
Ensembl chrNW_004624836:3,077,425...3,144,004 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chrNW_004624836:2,657,320...2,676,124
Ensembl chrNW_004624836:2,653,474...2,676,766 		JBrowse link
X-linked lymphoproliferative syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 NCBI chrNW_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked | ClinVar Annotator: match by term: SH2D1A-related condition OMIM
ClinVar		 PMID:3374620 PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 More... NCBI chrNW_004624797:3,120,123...3,142,564
Ensembl chrNW_004624797:3,120,123...3,142,564 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 NCBI chrNW_004624885:1,951,442...1,960,292
Ensembl chrNW_004624885:1,952,387...1,960,424 		JBrowse link
X-linked lymphoproliferative syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chrNW_004624797:1,775,105...2,167,651
Ensembl chrNW_004624797:1,775,071...2,169,286 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chrNW_004624797:3,120,123...3,142,564
Ensembl chrNW_004624797:3,120,123...3,142,564 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chrNW_004624797:2,659,785...2,794,168
Ensembl chrNW_004624797:2,719,508...2,794,379 		JBrowse link
G Thoc2 THO complex 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chrNW_004624797:2,299,694...2,411,269 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      immune system disease 4149
        lymphatic system disease 1560
          CLAPO Syndrome 1
          Hennekam syndrome + 3
          Lymphangiectasis + 4
          Lymphatic Abnormalities + 89
          Lymphatic Metastasis 145
          Nodular Lymphocytic Vasculitis 0
          Pseudolymphoma 0
          filariasis + 5
          generalized lymphatic anomaly 0
          glandular tularemia 0
          histiocytosis + 87
          lymph node disease + 42
          lymphangitis 0
          lymphatic system cancer + 580
          lymphedema + 147
          lymphocele + 0
          lymphoproliferative syndrome + 990
          oculoglandular tularemia 0
          splenic disease + 145
          thymus gland disease + 16
          ulceroglandular tularemia 0
Path 2
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      Immune & Inflammatory Diseases 4766
        immune system disease 4149
          lymphatic system disease 1560
            CLAPO Syndrome 1
            Hennekam syndrome + 3
            Lymphangiectasis + 4
            Lymphatic Abnormalities + 89
            Lymphatic Metastasis 145
            Nodular Lymphocytic Vasculitis 0
            Pseudolymphoma 0
            filariasis + 5
            generalized lymphatic anomaly 0
            glandular tularemia 0
            histiocytosis + 87
            lymph node disease + 42
            lymphangitis 0
            lymphatic system cancer + 580
            lymphedema + 147
            lymphocele + 0
            lymphoproliferative syndrome + 990
            oculoglandular tularemia 0
            splenic disease + 145
            thymus gland disease + 16
            ulceroglandular tularemia 0
paths to the root