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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_004936733:772,764...792,792
Ensembl chrNW_004936733:772,708...792,995 		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_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689 		JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chrNW_004936495:4,839,496...4,842,906
Ensembl chrNW_004936495:4,838,051...4,842,994 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525 		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_004936483:16,072,421...16,087,286
Ensembl chrNW_004936483:16,072,663...16,087,218 		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_004936588:1,288,447...1,332,489
Ensembl chrNW_004936588:1,288,392...1,330,297 		JBrowse link
G Rnf20 ring finger protein 20 disease_progression ISO RGD PMID:23412334 RGD:9831405 NCBI chrNW_004936524:9,690,611...9,715,579
Ensembl chrNW_004936524:9,690,566...9,717,173 		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_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:snps, haplotype:multiple (human)		 CTD
RGD		 PMID:22674224 RGD:8657089 NCBI chrNW_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427 		JBrowse link
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_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393 		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_004936487:17,690,206...17,819,619
Ensembl chrNW_004936487:17,690,968...17,819,669 		JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility ISO RGD PMID:17065136 RGD:11100012 NCBI chrNW_004936570:1,315,192...1,322,719 JBrowse link
G Aicda activation induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603 PMID:19684604 NCBI chrNW_004936614:1,072,263...1,252,573
Ensembl chrNW_004936614:1,072,260...1,252,283 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chrNW_004936580:1,038,420...1,093,319
Ensembl chrNW_004936580:1,036,973...1,082,984 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO OMIM NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820 		JBrowse link
G Bcl2 BCL2 apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921 		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_004936485:18,654,046...18,707,324 JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO OMIM NCBI chrNW_004936619:288,377...432,297
Ensembl chrNW_004936619:288,340...432,315 		JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922 		JBrowse link
G Cast calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chrNW_004936523:6,688,153...6,798,184
Ensembl chrNW_004936523:6,686,519...6,798,321 		JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 Ensembl chrNW_004936599:973,838...983,316 JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chrNW_004936557:5,136,784...5,175,543 JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chrNW_004936541:4,534,233...4,537,448
Ensembl chrNW_004936541:4,534,246...4,537,590 		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_004936536:8,414,491...8,481,712 JBrowse link
G Cdk6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chrNW_004936803:1,025,047...1,229,396
Ensembl chrNW_004936803:1,024,779...1,227,516 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chrNW_004936652:3,576,975...3,582,790
Ensembl chrNW_004936652:3,538,986...3,581,159 		JBrowse link
G Cebpe CCAAT enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chrNW_004936722:1,207,718...1,209,482
Ensembl chrNW_004936722:1,207,743...1,209,482 		JBrowse link
G Cfb complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215 		JBrowse link
G Crebbp CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617 		JBrowse link
G Crlf2 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chrNW_004936644:3,866,973...3,872,749 JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chrNW_004936471:34,438,676...34,475,005
Ensembl chrNW_004936471:34,438,676...34,475,052 		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_004936469:67,962...83,116 JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chrNW_004936493:6,963,406...7,013,256
Ensembl chrNW_004936493:6,935,386...7,007,610 		JBrowse link
G Dntt DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chrNW_004936636:3,153,454...3,189,774
Ensembl chrNW_004936636:3,153,569...3,189,774 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase disease_progression
no_association		 ISO DNA:SNP: :85T>C (human)
DNA:splice-site mutation:intron:IVS14+1G>A (human)
DNA:SNPs: :2194G>A, 1156G>T (human)		 RGD PMID:26846104 RGD:11098453 NCBI chrNW_004936537:1,660,461...2,439,305
Ensembl chrNW_004936537:1,660,477...2,439,273 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chrNW_004936669:321,580...450,061
Ensembl chrNW_004936669:321,249...423,018 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chrNW_004936727:1,648,451...1,663,294
Ensembl chrNW_004936727:1,648,448...1,663,455 		JBrowse link
G Eng endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488 		JBrowse link
G Ephx1 epoxide hydrolase 1 no_association
susceptibility		 ISO DNA:SNPs:exon:rs1051740, rs2234922 (human)
DNA:polymorphisms:exon
DNA:missense mutation, haplotype:exon:p.Y113H (human)
DNA:missense mutation, haplotype:exon:p.H139R (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_004936526:2,589,254...2,652,831
Ensembl chrNW_004936526:2,614,059...2,653,286 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:SNPs: :8092C>A, 19007G>A (human)
DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)		 RGD PMID:16435384 PMID:16723154 RGD:11252160 RGD:11340204 NCBI chrNW_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit no_association ISO DNA:haplotype
DNA:missense mutations: :p.D312N, p.K751Q (human)		 RGD PMID:19101034 PMID:21987080 RGD:11252192 RGD:11340201 NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
G Erg ETS transcription factor ERG ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chrNW_004936500:4,459,298...4,623,290
Ensembl chrNW_004936500:4,459,275...4,624,432 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:26102509 NCBI chrNW_004936587:5,328,467...5,457,260
Ensembl chrNW_004936587:5,330,665...5,457,264 		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_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chrNW_004936537:4,637,028...4,647,915
Ensembl chrNW_004936537:4,636,667...4,647,916 		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_004936735:209,369...234,582 JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar
OMIM		 PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 More... NCBI chrNW_004936472:23,169,967...23,239,178
Ensembl chrNW_004936472:23,170,470...23,256,904 		JBrowse link
G Fpgs folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chrNW_004936487:15,453,010...15,466,591
Ensembl chrNW_004936487:15,453,032...15,468,985 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35115686 NCBI chrNW_004936484:6,780,692...6,800,883
Ensembl chrNW_004936484:6,780,692...6,800,966 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chrNW_004936487:19,414,135...19,417,465
Ensembl chrNW_004936487:19,414,135...19,417,465 		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_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918 PMID:24698347 RGD:11352774 RGD:11352812 NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 disease_progression
no_association
susceptibility		 ISO DNA:haplotype:cds:
DNA:polymorphism: :1578 a>G(human)
DNA:transition mutation:exon:		 RGD PMID:10666194 PMID:15738600 PMID:23979883 RGD:10450829 RGD:10755321 RGD:10755417 NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050 		JBrowse link
G H1-2 H1.2 linker histone, cluster member susceptibility ISO DNA:SNP, haplotype:enhancer: (rs807212) (human) RGD PMID:19806355 RGD:10755490 NCBI chrNW_004936671:1,907,356...1,911,821
Ensembl chrNW_004936671:1,907,321...1,911,851 		JBrowse link
G Hck HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chrNW_004936485:18,996,016...19,017,908
Ensembl chrNW_004936485:18,978,412...19,017,908 		JBrowse link
G Hdac1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860 		JBrowse link
G Hdac2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641 		JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074 		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_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580 		JBrowse link
G Hk1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793 		JBrowse link
G Hlf HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chrNW_004936490:7,273,051...7,324,681
Ensembl chrNW_004936490:7,273,112...7,324,687 		JBrowse link
G Hoxd4 homeobox D4 ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to ClinVar PMID:15776434 NCBI chrNW_004936509:5,637,600...5,640,335
Ensembl chrNW_004936509:5,637,600...5,640,917 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363 		JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		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_004936686:1,459,582...1,556,478
Ensembl chrNW_004936686:1,462,145...1,556,451 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004936586:3,522,614...3,676,070
Ensembl chrNW_004936586:3,525,933...3,674,061 		JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004936490:14,939,693...15,025,728
Ensembl chrNW_004936490:14,939,776...15,025,728 		JBrowse link
G Il10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:15860861 PMID:21653647 RGD:11049158 RGD:11049169 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chrNW_004936633:1,565,293...1,580,859
Ensembl chrNW_004936633:1,564,637...1,580,859 		JBrowse link
G Itpa inosine triphosphatase treatment
no_association		 ISO DNA:SNPs:exon:94C>A, 138G>A (human)
DNA:SNP:intron		 RGD PMID:22009189 RGD:10766474 NCBI chrNW_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992 		JBrowse link
G Kdm2b lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chrNW_004936558:2,771,420...2,897,694
Ensembl chrNW_004936558:2,771,420...2,897,292 		JBrowse link
G Kdm3b lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chrNW_004936531:7,517,810...7,600,319
Ensembl chrNW_004936531:7,516,125...7,600,347 		JBrowse link
G Kdm6a lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chrNW_004936502:10,980,303...11,196,711
Ensembl chrNW_004936502:10,980,118...11,196,163 		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_004936542:3,480,071...3,566,823
Ensembl chrNW_004936542:3,391,774...3,562,147 		JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045 PMID:25917266 RGD:11060148 RGD:11060149 NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523 		JBrowse link
G Lmo2 LIM domain only 2 ISO OMIM:247640 | OMIM:613065 MouseDO NCBI chrNW_004936533:4,107,073...4,117,121
Ensembl chrNW_004936533:4,107,067...4,117,222 		JBrowse link
G LOC101961588 cytochrome P450 2D17 susceptibility ISO DNA:SNP,deletion:splice junction,exon:1934G>A(human)
DNA:polymorphisms: :		 RGD PMID:11037802 PMID:19593802 RGD:11252111 RGD:11352820 NCBI chrNW_004936718:153,340...157,966 JBrowse link
G LOC101967032 cytochrome b-245 light chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chrNW_004936641:1,036,967...1,044,954
Ensembl chrNW_004936641:1,036,967...1,044,991 		JBrowse link
G LOC101969021 somatotropin treatment ISO RGD PMID:2494952 RGD:11352727 NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G LOC101969148 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_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332 		JBrowse link
G LOC101969421 cytochrome P450 1A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chrNW_004936471:33,704,616...33,709,455
Ensembl chrNW_004936471:33,703,792...33,709,484 		JBrowse link
G LOC101970101 cytochrome P450 1B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chrNW_004936663:345,021...355,188
Ensembl chrNW_004936663:348,368...355,191 		JBrowse link
G LOC101973029 cytochrome P450 2E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 NCBI chrNW_004936486:19,691,822...19,702,684
Ensembl chrNW_004936486:19,691,822...19,702,102 		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_004936694:970,706...980,605 JBrowse link
G Mthfr methylenetetrahydrofolate reductase disease_progression
treatment		 ISO DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)
DNA:missense mutation:cds:677C>T (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16706930 PMID:19923983 PMID:21644011 RGD:10449398 RGD:10449407 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility
no_association
disease_progression		 ISO DNA:polymorphism: :2756A>G(human)
DNA:SNP::rs10925235(human)
DNA:polymorphism: :66A>G(human)		 RGD PMID:15159311 PMID:21618417 PMID:22453148 PMID:26605150 RGD:11531136 RGD:11531137 RGD:11531140 RGD:11531141 NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :rs3776455(human)
DNA:haplotype:cds:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17136115 PMID:23940529 RGD:11531133 RGD:11531135 NCBI chrNW_004936643:379,790...410,034
Ensembl chrNW_004936643:380,968...409,464 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965 		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_004936544:3,773,828...3,812,673
Ensembl chrNW_004936544:3,775,220...3,808,837 		JBrowse link
G Nos3 nitric oxide synthase 3 disease_progression
susceptibility		 ISO DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
DNA:SNP: :rs3918186(human)		 RGD PMID:20510681 PMID:23922896 RGD:11533639 RGD:11533646 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534 		JBrowse link
G Notch3 notch receptor 3 ISO OMIM:247640 | OMIM:613065 MouseDO NCBI chrNW_004936596:5,265,984...5,301,430
Ensembl chrNW_004936596:5,265,999...5,300,429 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)
DNA:mutation: :609C>T (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11774269 PMID:17332311 PMID:18444911 RGD:10769347 RGD:10769359 NCBI chrNW_004936475:19,771,384...19,785,034
Ensembl chrNW_004936475:19,769,488...19,785,311 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chrNW_004936477:21,460,442...21,531,563
Ensembl chrNW_004936477:21,460,478...21,534,909 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chrNW_004936600:2,828,277...2,892,795 JBrowse link
G Nup214 nucleoporin 214 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chrNW_004936487:17,981,402...18,067,828
Ensembl chrNW_004936487:17,981,304...18,067,854 		JBrowse link
G P2ry8 P2Y receptor family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chrNW_004936644:3,768,646...3,770,610
Ensembl chrNW_004936644:3,768,463...3,770,500 		JBrowse link
G Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004936656:3,010,603...3,152,674
Ensembl chrNW_004936656:3,129,084...3,143,449 		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_004936524:4,700,815...4,887,035
Ensembl chrNW_004936524:4,700,841...4,887,106 		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_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:blood (human) RGD PMID:27275197 RGD:11535025 NCBI chrNW_004936619:1,748,337...1,751,748 JBrowse link
G Prdm14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chrNW_004936496:14,789,443...14,820,967
Ensembl chrNW_004936496:14,806,928...14,820,967 		JBrowse link
G Pten phosphatase and tensin homolog ISO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chrNW_004936778:823,376...846,843
Ensembl chrNW_004936778:829,550...848,833 		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_004936567:849,300...855,214
Ensembl chrNW_004936567:849,397...855,187 		JBrowse link
G Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor ISO OMIM NCBI chrNW_004936474:28,049,326...28,061,495
Ensembl chrNW_004936474:28,047,808...28,056,065 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chrNW_004936588:884,817...913,052
Ensembl chrNW_004936588:884,789...912,753 		JBrowse link
G Tcn2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chrNW_004936904:97,535...113,886
Ensembl chrNW_004936904:95,542...113,985 		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_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697 		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_004936472:10,946,263...11,006,311
Ensembl chrNW_004936472:10,945,906...11,006,324 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
G Tpmt thiopurine S-methyltransferase treatment
no_association		 ISO DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human)
DNA:SNPs: :multiple
DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human)
DNA:SNPs:multiple		 RGD PMID:17164697 PMID:22009189 PMID:24499706 RGD:10766474 RGD:11038720 RGD:11038723 NCBI chrNW_004936552:3,899,445...3,917,774
Ensembl chrNW_004936552:3,897,375...3,917,772 		JBrowse link
G Ttc12 tetratricopeptide repeat domain 12 ISO DNA:hypermethylation:5'end:CpG dinucleotide RGD PMID:17657212 RGD:405866376 NCBI chrNW_004936612:1,194,899...1,241,624
Ensembl chrNW_004936612:1,194,662...1,241,624 		JBrowse link
G Tyms thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chrNW_004936550:33,797...42,233
Ensembl chrNW_004936550:34,048...41,840 		JBrowse link
G Vpreb1 V-set pre-B cell surrogate light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chrNW_004936619:1,700,203...1,700,746
Ensembl chrNW_004936619:1,700,203...1,700,746 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 no_association
susceptibility		 ISO DNA:missense mutation: :p.R399Q (human)
DNA:missense mutation: :p.R194W (human)
DNA:missense mutation, haplotype: :p.R399Q (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19101034 PMID:21983886 RGD:11252110 RGD:11252192 NCBI chrNW_004936706:752,571...783,746
Ensembl chrNW_004936706:751,108...783,777 		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_004936487:17,690,206...17,819,619
Ensembl chrNW_004936487:17,690,968...17,819,669 		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_004936644:3,866,973...3,872,749 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_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		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_004936518:5,815,820...5,842,571 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_004936503:67,933...78,496 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_004936692:2,298,149...2,354,084
Ensembl chrNW_004936692:2,299,504...2,354,132 		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_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867 		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_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048 		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_004936478:7,146,997...7,160,369
Ensembl chrNW_004936478:7,147,027...7,160,401 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004936512:4,020,303...4,199,390
Ensembl chrNW_004936512:4,020,966...4,196,459 		JBrowse link
G Arid4b AT-rich interaction domain 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936484:17,116,304...17,257,640
Ensembl chrNW_004936484:17,116,229...17,258,277 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936614:1,072,263...1,252,573
Ensembl chrNW_004936614:1,072,260...1,252,283 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211 		JBrowse link
G Atr ATR serine/threonine kinase treatment ISO RGD PMID:32001675 RGD:150340693 NCBI chrNW_004936540:4,074,543...4,178,859
Ensembl chrNW_004936540:4,074,570...4,178,898 		JBrowse link
G Atrx ATRX chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620 		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_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936491:6,021,340...6,118,103
Ensembl chrNW_004936491:6,021,343...6,118,568 		JBrowse link
G Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004936502:6,764,043...6,812,194
Ensembl chrNW_004936502:6,764,907...6,792,916 		JBrowse link
G Bcorl1 BCL6 corepressor like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936479:1,539,676...1,605,647
Ensembl chrNW_004936479:1,538,051...1,606,344 		JBrowse link
G Brca1 BRCA1 DNA repair associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936490:17,735,444...17,801,456 JBrowse link
G Brd1 bromodomain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936629:909,716...958,620
Ensembl chrNW_004936629:909,680...958,896 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chrNW_004936475:18,990,529...19,065,954
Ensembl chrNW_004936475:18,990,474...19,067,203 		JBrowse link
G Cmtr2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936475:22,434,009...22,441,350
Ensembl chrNW_004936475:22,434,180...22,440,846 		JBrowse link
G Cntn6 contactin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936577:1,108,502...1,393,706
Ensembl chrNW_004936577:1,167,211...1,393,521 		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_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936680:2,842,930...3,020,757
Ensembl chrNW_004936680:2,842,547...3,021,058 		JBrowse link
G Dtl denticleless E3 ubiquitin protein ligase homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936557:1,347,991...1,389,836
Ensembl chrNW_004936557:1,347,991...1,389,836 		JBrowse link
G Dtx4 deltex E3 ubiquitin ligase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936581:3,433,760...3,467,863
Ensembl chrNW_004936581:3,437,489...3,467,869 		JBrowse link
G Efhd1 EF-hand domain family member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936525:4,445,779...4,484,674
Ensembl chrNW_004936525:4,445,773...4,484,680 		JBrowse link
G En1 engrailed homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936469:51,439,944...51,451,194 JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936492:696,982...778,132
Ensembl chrNW_004936492:696,960...778,138 		JBrowse link
G Erbin erbb2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936480:3,155,934...3,293,224
Ensembl chrNW_004936480:3,154,690...3,293,230 		JBrowse link
G Espl1 extra spindle pole bodies like 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936512:10,556,269...10,576,582
Ensembl chrNW_004936512:10,556,672...10,576,588 		JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936641:281,119...319,796
Ensembl chrNW_004936641:281,073...324,053 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823 		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_004936689:2,261,163...2,449,951
Ensembl chrNW_004936689:2,259,477...2,344,764 		JBrowse link
G Fgf16 fibroblast growth factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936683:2,454,067...2,463,653
Ensembl chrNW_004936683:2,454,067...2,463,635 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:26619011 NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936597:1,388,394...1,397,731
Ensembl chrNW_004936597:1,385,624...1,397,758 		JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936589:4,120,162...4,661,258
Ensembl chrNW_004936589:4,123,182...4,382,005 		JBrowse link
G Gas2 growth arrest specific 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936654:3,326,557...3,448,930
Ensembl chrNW_004936654:3,326,511...3,448,872 		JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936472:27,116...57,158
Ensembl chrNW_004936472:32,123...54,028 		JBrowse link
G Gins2 GINS complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936641:2,757,150...2,775,904
Ensembl chrNW_004936641:2,757,150...2,776,681 		JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936576:2,353,874...2,411,747
Ensembl chrNW_004936576:2,353,761...2,411,425 		JBrowse link
G Homer3 homer scaffold protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936596:2,406,427...2,413,651
Ensembl chrNW_004936596:2,406,326...2,413,604 		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_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958 		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_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363 		JBrowse link
G Igfbp2 insulin like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936586:671,760...696,783
Ensembl chrNW_004936586:672,091...696,692 		JBrowse link
G Il17rd interleukin 17 receptor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936473:7,447,292...7,507,819
Ensembl chrNW_004936473:7,447,292...7,507,830 		JBrowse link
G Insrr insulin receptor related receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936580:5,982,259...5,999,994
Ensembl chrNW_004936580:5,983,006...5,999,994 		JBrowse link
G Irx4 iroquois homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936815:90,707...94,138
Ensembl chrNW_004936815:90,942...94,147 		JBrowse link
G Isyna1 inositol-3-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936596:2,815,782...2,819,100
Ensembl chrNW_004936596:2,815,821...2,819,020 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:14615376 PMID:28492532 PMID:33040328 NCBI chrNW_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048 		JBrowse link
G Jmjd1c jumonji domain containing 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936753:1,413,935...1,645,974
Ensembl chrNW_004936753:1,414,240...1,645,161 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936541:2,480,097...2,677,693
Ensembl chrNW_004936541:2,480,849...2,675,991 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936785:602,754...704,504
Ensembl chrNW_004936785:603,478...701,791 		JBrowse link
G Kdm6a lysine demethylase 6A exacerbates ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple: (human)
DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human)		 CTD
RGD		 PMID:23685749 PMID:31483290 RGD:150429732 RGD:150429736 NCBI chrNW_004936502:10,980,303...11,196,711
Ensembl chrNW_004936502:10,980,118...11,196,163 		JBrowse link
G Kdm6b lysine demethylase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936595:1,077,318...1,099,082
Ensembl chrNW_004936595:1,089,544...1,097,595 		JBrowse link
G Kmt2c lysine methyltransferase 2C disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23685749 PMID:31483290 RGD:150429736 NCBI chrNW_004936527:7,310,885...7,508,032
Ensembl chrNW_004936527:7,312,721...7,506,365 		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_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523 		JBrowse link
G Krt15 keratin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936490:16,431,604...16,436,139
Ensembl chrNW_004936490:16,431,558...16,526,000 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517 		JBrowse link
G LOC101962705 membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936637:985,706...1,154,670
Ensembl chrNW_004936637:560,298...1,151,850 		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_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083 		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_004936479:21,373,917...22,062,498
Ensembl chrNW_004936479:21,373,746...21,920,214 		JBrowse link
G Maml3 mastermind like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936535:7,537,420...7,991,983
Ensembl chrNW_004936535:7,599,660...7,989,952 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936588:2,338,127...2,377,090
Ensembl chrNW_004936588:2,336,858...2,377,090 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936679:2,373,104...2,379,230 JBrowse link
G Mark2 microtubule affinity regulating kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936599:5,226,603...5,287,677
Ensembl chrNW_004936599:5,226,496...5,287,683 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004936593:2,742,236...3,282,596
Ensembl chrNW_004936593:3,106,202...3,282,596 		JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936471:4,946,770...5,073,925
Ensembl chrNW_004936471:4,946,124...5,073,849 		JBrowse link
G Mier2 MIER family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936588:25,272...46,226
Ensembl chrNW_004936588:25,253...46,246 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936629:696,592...719,363
Ensembl chrNW_004936629:696,451...719,416 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936471:37,073,920...37,097,216
Ensembl chrNW_004936471:37,073,895...37,097,235 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 PMID:26829750 NCBI chrNW_004936560:2,797,943...2,828,813
Ensembl chrNW_004936560:2,796,697...2,829,650 		JBrowse link
G Mybl1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936496:7,395,541...7,436,295
Ensembl chrNW_004936496:7,395,533...7,436,358 		JBrowse link
G Mycbp MYC binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936474:20,837,757...20,871,444
Ensembl chrNW_004936474:20,856,732...20,866,184 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315 		JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936475:450,382...508,357
Ensembl chrNW_004936475:450,382...508,357 		JBrowse link
G Nfib nuclear factor I B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936539:7,763,036...8,185,001
Ensembl chrNW_004936539:7,769,413...7,985,316 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936597:1,426,318...1,577,193
Ensembl chrNW_004936597:1,425,974...1,572,715 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 treatment ISO RGD PMID:23027130 RGD:150519921 NCBI chrNW_004936483:13,912,904...14,291,881
Ensembl chrNW_004936483:13,909,109...14,291,887 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936721:783,973...787,712
Ensembl chrNW_004936721:782,032...787,952 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936867:426,648...439,512 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_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936590:4,722,914...4,887,615
Ensembl chrNW_004936590:4,722,873...4,890,156 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323 		JBrowse link
G Pygb glycogen phosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936620:533,574...575,893
Ensembl chrNW_004936620:532,634...575,916 		JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936492:4,624,013...4,826,715
Ensembl chrNW_004936492:4,645,167...4,821,291 		JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373 		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_004936506:1,749,591...1,790,860
Ensembl chrNW_004936506:1,749,563...1,791,739 		JBrowse link
G Slc3a2 solute carrier family 3 member 2 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chrNW_004936581:424,801...441,592 JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chrNW_004936641:1,513,110...1,538,955 JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004936619:1,276,239...1,308,945
Ensembl chrNW_004936619:1,275,362...1,308,913 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936490:15,638,546...15,659,372
Ensembl chrNW_004936490:15,638,526...15,659,706 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936751:332,351...388,756
Ensembl chrNW_004936751:349,597...388,755 		JBrowse link
G Son SON DNA and RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936500:8,721,155...8,752,906
Ensembl chrNW_004936500:8,722,087...8,752,844 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004937107:203,120...207,185 JBrowse link
G Srcap Snf2 related CREBBP activator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936501:13,095,690...13,131,183
Ensembl chrNW_004936501:13,096,840...13,131,183 		JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936572:5,806,897...5,851,557
Ensembl chrNW_004936572:5,806,894...5,841,550 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
G Tlk1 tousled like kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936509:1,315,802...1,403,993
Ensembl chrNW_004936509:1,317,534...1,404,705 		JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936490:15,441,463...15,465,692
Ensembl chrNW_004936490:15,441,575...15,466,978 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO ClinVar Annotator: match by term: Adenocystic carcinoma RGD
ClinVar		 PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 More... RGD:8547828 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
G Uhrf1 ubiquitin like with PHD and ring finger domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chrNW_004936588:2,863,651...2,890,116
Ensembl chrNW_004936588:2,862,367...2,888,946 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936469:2,585,142...2,688,029
Ensembl chrNW_004936469:2,585,134...2,688,029 		JBrowse link
G Wnt5b Wnt family member 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936606:1,741,500...1,854,857
Ensembl chrNW_004936606:1,838,043...1,856,095 		JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO DNA:hypermethylation:3' utr: (human) RGD PMID:21692051 RGD:11041796 NCBI chrNW_004936620:4,069,956...4,145,212
Ensembl chrNW_004936620:4,069,934...4,145,745 		JBrowse link
G Zim2 zinc finger imprinted 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chrNW_004936882:533,514...539,145 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_004936668:62,103...81,549
Ensembl chrNW_004936668:67,535...81,505 		JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acot8 acyl-CoA thioesterase 8 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_004936514:7,166,392...7,180,537
Ensembl chrNW_004936514:7,166,818...7,180,537 		JBrowse link
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_004936530:2,217,713...2,224,070 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_004936514:7,997,802...8,010,378
Ensembl chrNW_004936514:7,997,697...8,010,396 		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_004936481:18,544,129...18,605,239
Ensembl chrNW_004936481:18,597,335...18,604,097 		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_004936542:3,405,084...3,412,104 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_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280 		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_004936514:6,841,462...6,932,547
Ensembl chrNW_004936514:6,841,462...6,932,547 		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_004936514:7,131,263...7,136,775
Ensembl chrNW_004936514:7,130,848...7,136,536 		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_004936514:7,488,672...7,499,238
Ensembl chrNW_004936514:7,488,679...7,526,802 		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_004936514:7,209,091...7,231,996
Ensembl chrNW_004936514:7,207,441...7,232,256 		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_004936514:6,706,236...6,745,538
Ensembl chrNW_004936514:6,706,236...6,746,006 		JBrowse link
G Eppin epididymal 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_004936514:7,387,348...7,392,274
Ensembl chrNW_004936514:7,387,348...7,392,788 		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_004936530:2,491,924...2,498,579
Ensembl chrNW_004936530:2,491,879...2,498,717 		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_004936530:2,507,055...2,520,869
Ensembl chrNW_004936530:2,506,967...2,520,033 		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_004936530:2,908,751...2,909,200 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_004936530:2,401,053...2,425,989
Ensembl chrNW_004936530:2,401,043...2,454,466 		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_004936530:2,965,587...3,003,758
Ensembl chrNW_004936530:2,967,533...3,003,980 		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_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048 		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_004936530:2,570,365...2,606,743 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_004936514:7,977,255...7,984,172
Ensembl chrNW_004936514:7,978,132...7,982,923 		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_004936514:7,671,664...7,677,806
Ensembl chrNW_004936514:7,671,264...7,678,139 		JBrowse link
G LOC101960095 antileukoproteinase 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_004936514:7,618,382...7,620,790
Ensembl chrNW_004936514:7,618,261...7,620,912 		JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129 		JBrowse link
G LOC110598145 WAP four-disulfide core domain protein 15A 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_004936514:7,650,114...7,651,139 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_004936514:7,578,035...7,589,997
Ensembl chrNW_004936514:7,578,025...7,590,061 		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_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		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_004936530:2,918,924...2,953,467
Ensembl chrNW_004936530:2,918,951...2,953,467 		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_004936514:6,964,397...6,996,997
Ensembl chrNW_004936514:6,964,434...6,999,129 		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_004936514:7,136,797...7,141,377
Ensembl chrNW_004936514:7,136,814...7,141,206 		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_004936514:6,601,580...6,608,785
Ensembl chrNW_004936514:6,601,637...6,608,785 		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_004936530:2,550,314...2,562,492
Ensembl chrNW_004936530:2,550,315...2,563,405 		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_004936514:7,809,030...7,831,606
Ensembl chrNW_004936514:7,809,080...7,830,246 		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_004936514:7,090,367...7,103,124
Ensembl chrNW_004936514:7,091,140...7,103,124 		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_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199 		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_004936530:2,224,492...2,326,287
Ensembl chrNW_004936530:2,224,496...2,262,653 		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_004936514:7,121,023...7,131,475 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_004936530:2,459,957...2,468,263
Ensembl chrNW_004936530:2,460,142...2,468,263 		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_004936533:1,817,135...1,827,393
Ensembl chrNW_004936533:1,817,135...1,827,393 		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_004936514:7,569,970...7,579,601
Ensembl chrNW_004936514:7,569,970...7,578,485 		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_004936514:7,923,019...7,977,193
Ensembl chrNW_004936514:7,923,013...7,973,299 		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_004936514:7,528,538...7,562,391
Ensembl chrNW_004936514:7,555,685...7,562,391 		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_004936530:2,332,154...2,356,552
Ensembl chrNW_004936530:2,332,168...2,358,133 		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_004936514:6,999,793...7,027,094
Ensembl chrNW_004936514:6,998,044...7,026,767 		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_004936514:6,554,605...6,594,014
Ensembl chrNW_004936514:6,554,608...6,592,671 		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_004936514:6,490,728...6,504,152
Ensembl chrNW_004936514:6,493,512...6,497,063 		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_004936514:6,747,067...6,759,770
Ensembl chrNW_004936514:6,747,027...6,760,072 		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_004936514:7,180,533...7,188,201
Ensembl chrNW_004936514:7,180,851...7,186,146 		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_004936514:7,140,303...7,141,377
Ensembl chrNW_004936514:7,140,267...7,141,377 		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_004936514:7,686,760...7,784,948
Ensembl chrNW_004936514:7,686,087...7,785,025 		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_004936514:7,518,048...7,529,024
Ensembl chrNW_004936514:7,524,557...7,529,012 		JBrowse link
G Tnnc2 troponin C2, fast skeletal type 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_004936514:7,196,576...7,199,603
Ensembl chrNW_004936514:7,196,536...7,199,649 		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_004936514:7,787,843...7,824,781
Ensembl chrNW_004936514:7,787,809...7,804,979 		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_004936530:2,646,783...2,774,162
Ensembl chrNW_004936530:2,646,774...2,727,618 		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_004936514:6,512,838...6,515,479
Ensembl chrNW_004936514:6,512,778...6,515,771 		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_004936514:7,513,856...7,517,791
Ensembl chrNW_004936514:7,514,474...7,517,662 		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_004936530:2,358,199...2,373,837
Ensembl chrNW_004936530:2,358,204...2,373,859 		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_004936514:7,204,332...7,208,340
Ensembl chrNW_004936514:7,199,539...7,207,655 		JBrowse link
G Wfdc11 WAP four-disulfide core domain 11 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
G Wfdc13 WAP four-disulfide core domain 13 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_004936514:7,291,548...7,294,083 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_004936514:7,416,484...7,422,306
Ensembl chrNW_004936514:7,416,460...7,422,366 		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_004936514:7,234,315...7,246,255 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_004936514:7,659,499...7,664,318 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_004936514:7,367,994...7,381,900 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_004936514:7,333,739...7,335,439
Ensembl chrNW_004936514:7,333,739...7,335,439 		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_004936514:7,832,094...7,853,170
Ensembl chrNW_004936514:7,830,387...7,853,262 		JBrowse link
G Znf334 zinc finger protein 334 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_004936514:6,629,390...6,642,028 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_004936514:7,070,030...7,090,466
Ensembl chrNW_004936514:7,072,554...7,090,183 		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_004936514:7,142,280...7,186,114
Ensembl chrNW_004936514:7,142,280...7,186,114 		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_004936514:7,146,602...7,166,581
Ensembl chrNW_004936514:7,146,591...7,167,258 		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_004936594:2,812,165...2,820,618
Ensembl chrNW_004936594:2,812,238...2,820,636 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chrNW_004936534:4,707,658...4,871,865
Ensembl chrNW_004936534:4,709,064...4,871,023 		JBrowse link
G Card11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936823:580,438...621,298
Ensembl chrNW_004936823:581,955...621,208 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936473:23,321,167...23,323,075 JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936490:15,575,764...15,579,766
Ensembl chrNW_004936490:15,575,764...15,579,757 		JBrowse link
G Cd274 CD274 molecule disease_progression ISO RGD PMID:27418641 RGD:41412177 NCBI chrNW_004936539:132,870...145,288
Ensembl chrNW_004936539:132,868...143,602 		JBrowse link
G Cd28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407 		JBrowse link
G Cd68 CD68 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chrNW_004936595:858,289...861,131 JBrowse link
G Cd80 CD80 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chrNW_004936536:6,462,080...6,483,450 JBrowse link
G Cd86 CD86 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Csnk1a1 casein kinase 1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936504:5,351,354...5,394,856
Ensembl chrNW_004936504:5,351,029...5,396,034 		JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936485:17,966,993...18,021,191 JBrowse link
G Csnk2b casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936727:1,857,596...1,862,551
Ensembl chrNW_004936727:1,857,596...1,862,002 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		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_004936735:209,369...234,582 JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23797717 PMID:23962110 RGD:38456007 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936679:388,500...588,518
Ensembl chrNW_004936679:387,387...443,880 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936484:6,780,692...6,800,883
Ensembl chrNW_004936484:6,780,692...6,800,966 		JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936472:11,196,567...11,198,890
Ensembl chrNW_004936472:11,186,267...11,198,832 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936478:2,970,261...2,980,277
Ensembl chrNW_004936478:2,970,468...2,980,381 		JBrowse link
G Icos inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936631:562,650...572,263
Ensembl chrNW_004936631:551,394...570,804 		JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8800741 PMID:23962110 RGD:10755707 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936586:3,522,614...3,676,070
Ensembl chrNW_004936586:3,525,933...3,674,061 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8704212 PMID:23962110 RGD:11049460 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Il5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chrNW_004936647:2,647,982...2,651,477
Ensembl chrNW_004936647:2,648,241...2,651,430 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936633:1,565,293...1,580,859
Ensembl chrNW_004936633:1,564,637...1,580,859 		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_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048 		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_004936560:2,797,943...2,828,813
Ensembl chrNW_004936560:2,796,697...2,829,650 		JBrowse link
G Notch1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590 		JBrowse link
G Plcg1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936561:598,372...631,575
Ensembl chrNW_004936561:598,382...631,581 		JBrowse link
G Prkcb protein kinase C beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936501:8,410,273...8,729,238
Ensembl chrNW_004936501:8,437,715...8,728,716 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chrNW_004936475:19,469,501...19,498,494
Ensembl chrNW_004936475:19,468,702...19,498,793 		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_004936600:4,564,246...4,569,774 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004936487:4,057,637...4,081,207
Ensembl chrNW_004936487:4,057,643...4,081,207 		JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464 		JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936588:4,058,312...4,107,330
Ensembl chrNW_004936588:4,058,343...4,107,109 		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 CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation		 CTD
RGD		 PMID:10583958 RGD:1600518 NCBI chrNW_004936636:3,220,554...3,290,054
Ensembl chrNW_004936636:3,220,554...3,289,588 		JBrowse link
G Btk Bruton tyrosine kinase susceptibility ISO DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia		 RGD
ClinVar		 PMID:8162018 PMID:10352268 RGD:1600526 NCBI chrNW_004936813:429,400...467,481
Ensembl chrNW_004936813:429,224...463,441 		JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chrNW_004936501:11,793,903...11,807,410
Ensembl chrNW_004936501:11,793,891...11,804,162 		JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936706:561,195...564,577
Ensembl chrNW_004936706:561,140...564,661 		JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936541:4,534,233...4,537,448
Ensembl chrNW_004936541:4,534,246...4,537,590 		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_004936487:16,360,672...16,387,860
Ensembl chrNW_004936487:16,361,014...16,389,380 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936588:884,817...913,052
Ensembl chrNW_004936588:884,789...912,753 		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_004936813:429,400...467,481
Ensembl chrNW_004936813:429,224...463,441 		JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936706:561,195...564,577
Ensembl chrNW_004936706:561,140...564,661 		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_004936562:1,852,759...1,870,647
Ensembl chrNW_004936562:1,852,740...1,870,472 		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_004936619:1,323,247...1,325,520
Ensembl chrNW_004936619:1,323,246...1,325,522 		JBrowse link
G CUNH22orf15 chromosome unknown C22orf15 homolog ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,325,521...1,328,009 JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,271,980...1,275,212
Ensembl chrNW_004936619:1,271,797...1,275,214 		JBrowse link
G Mif macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,309,013...1,320,062
Ensembl chrNW_004936619:1,310,846...1,320,062 		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_004936619:1,228,408...1,250,772
Ensembl chrNW_004936619:1,225,891...1,250,585 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,276,239...1,308,945
Ensembl chrNW_004936619:1,275,362...1,308,913 		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_004936619:1,332,863...1,334,135
Ensembl chrNW_004936619:1,332,863...1,334,046 		JBrowse link
G Znf70 zinc finger protein 70 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,335,782...1,343,396
Ensembl chrNW_004936619:1,335,808...1,340,612 		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_004936706:561,195...564,577
Ensembl chrNW_004936706:561,140...564,661 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936706:568,443...575,973
Ensembl chrNW_004936706:568,364...575,126 		JBrowse link
agammaglobulinemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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_004936636:3,220,554...3,290,054
Ensembl chrNW_004936636:3,220,554...3,289,588 		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_004936636:3,422,998...3,458,276
Ensembl chrNW_004936636:3,423,251...3,506,153 		JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936636:3,399,803...3,418,579
Ensembl chrNW_004936636:3,399,795...3,418,579 		JBrowse link
G LOC101975532 delta-1-pyrroline-5-carboxylate synthase ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936636:3,722,985...3,750,440
Ensembl chrNW_004936636:3,722,950...3,751,557 		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_004936636:3,311,979...3,345,040
Ensembl chrNW_004936636:3,314,943...3,319,379 		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_004936487:16,360,672...16,387,860
Ensembl chrNW_004936487:16,361,014...16,389,380 		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_004936541:4,534,233...4,537,448
Ensembl chrNW_004936541:4,534,246...4,537,590 		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_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537 		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_004936588:884,817...913,052
Ensembl chrNW_004936588:884,789...912,753 		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_004936588:884,817...913,052
Ensembl chrNW_004936588:884,789...912,753 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 NCBI chrNW_004936588:884,817...913,052
Ensembl chrNW_004936588:884,789...912,753 		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_004936476:25,650,957...25,655,072
Ensembl chrNW_004936476:25,650,959...25,655,077 		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_004936493:3,624,288...3,671,567
Ensembl chrNW_004936493:3,028,608...3,671,874 		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_004936835:316,767...321,999
Ensembl chrNW_004936835:316,767...321,990 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chrNW_004936633:1,565,293...1,580,859
Ensembl chrNW_004936633:1,564,637...1,580,859 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chrNW_004936659:1,890,786...1,892,619
Ensembl chrNW_004936659:1,891,080...1,892,123 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157 PMID:17261581 NCBI chrNW_004936474:814,510...889,851 JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555 		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_004936752:440,137...577,339
Ensembl chrNW_004936752:440,136...577,615 		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_004936521:7,417,914...7,452,695
Ensembl chrNW_004936521:7,418,184...7,452,695 		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:28492532 More... NCBI chrNW_004936735:266,918...283,858
Ensembl chrNW_004936735:266,754...284,377 		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_004936735:362,399...396,903
Ensembl chrNW_004936735:362,284...396,918 		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_004936481:14,130,319...14,161,114
Ensembl chrNW_004936481:14,136,920...14,164,198 		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_004936726:460,556...489,550
Ensembl chrNW_004936726:460,518...485,624 		JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922 		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_004936481:14,052,816...14,063,066
Ensembl chrNW_004936481:14,052,810...14,064,101 		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_004936601:5,015,922...5,016,942
Ensembl chrNW_004936601:5,015,219...5,160,908 		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_004936481:14,936,108...14,962,504 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_004936481:14,029,478...14,052,724
Ensembl chrNW_004936481:14,027,772...14,052,806 		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_004936481:14,971,977...15,411,253
Ensembl chrNW_004936481:14,971,947...15,411,288 		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_004936735:209,369...234,582 JBrowse link
G Faslg Fas ligand susceptibility 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
OMIM		 PMID:8787672 PMID:9536098 PMID:16627752 PMID:17576681 PMID:17605793 More... NCBI chrNW_004936481:14,789,547...14,795,780 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_004936601:4,914,868...4,919,637
Ensembl chrNW_004936601:4,914,380...4,919,574 		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_004936601:4,785,837...4,791,893
Ensembl chrNW_004936601:4,783,150...4,791,918 		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_004936481:14,074,169...14,111,634
Ensembl chrNW_004936481:14,071,470...14,111,838 		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_004936735:553,438...568,021
Ensembl chrNW_004936735:553,438...568,021 		JBrowse link
G Lipj lipase family member J ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chrNW_004936735:633,135...654,218 JBrowse link
G Lipk lipase family member K ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chrNW_004936735:481,668...505,770
Ensembl chrNW_004936735:481,668...505,770 		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_004936735:445,985...464,340
Ensembl chrNW_004936735:445,985...464,340 		JBrowse link
G LOC101956034 lipase 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_004936735:399,567...418,264
Ensembl chrNW_004936735:399,584...418,264 		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_004936481:15,446,940...15,460,306
Ensembl chrNW_004936481:15,446,809...15,460,306 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		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_004936481:15,544,733...15,556,813
Ensembl chrNW_004936481:15,544,660...15,556,857 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590 		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_004936481:14,962,572...14,964,929
Ensembl chrNW_004936481:14,962,613...14,964,861 		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_004936481:14,223,422...14,233,634
Ensembl chrNW_004936481:14,222,696...14,233,641 		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_004936481:13,919,006...13,973,868
Ensembl chrNW_004936481:13,919,257...13,966,677 		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_004936735:659,826...1,048,135 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_004936481:13,981,014...13,993,750
Ensembl chrNW_004936481:13,981,019...13,993,634 		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_004936601:4,685,215...4,766,116
Ensembl chrNW_004936601:4,747,489...4,763,697 		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_004936481:14,167,249...14,220,860 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_004936735:293,833...337,839
Ensembl chrNW_004936735:293,833...310,539 		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_004936481:14,823,622...14,892,312
Ensembl chrNW_004936481:14,823,253...14,892,318 		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_004936481:14,499,495...14,508,074
Ensembl chrNW_004936481:14,499,577...14,508,017 		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_004936481:14,391,359...14,409,514 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_004936481:15,480,865...15,515,851
Ensembl chrNW_004936481:15,480,879...15,516,945 		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_004936481:13,986,826...14,020,854
Ensembl chrNW_004936481:14,009,281...14,021,139 		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_004936726:460,556...489,550
Ensembl chrNW_004936726:460,518...485,624 		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_004936631:30,109...101,748
Ensembl chrNW_004936631:30,199...98,511 		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_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799 		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_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541 		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_004936726:734,269...867,709 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_004936726:1,958,561...2,010,972
Ensembl chrNW_004936726:1,922,060...2,010,981 		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_004936726:460,556...489,550
Ensembl chrNW_004936726:460,518...485,624 		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_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922 		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_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407 		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_004936726:1,037,614...1,129,961
Ensembl chrNW_004936726:1,037,636...1,130,571 		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_004936726:381,888...425,565
Ensembl chrNW_004936726:381,835...423,311 		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_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		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_004936726:1,753,318...1,846,977
Ensembl chrNW_004936726:1,753,652...1,843,405 		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_004936726:600,213...631,513
Ensembl chrNW_004936726:600,420...625,853 		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_004936726:1,256,684...1,275,324
Ensembl chrNW_004936726:1,256,678...1,275,467 		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_004936726:1,853,178...1,922,684
Ensembl chrNW_004936726:1,853,868...1,902,788 		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_004936631:562,650...572,263
Ensembl chrNW_004936631:551,394...570,804 		JBrowse link
G LOC101964504 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_004936726:2,234,611...2,295,527
Ensembl chrNW_004936726:2,235,361...2,298,775 		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_004936726:893,411...938,876
Ensembl chrNW_004936726:892,550...938,969 		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_004936726:2,045,202...2,224,477
Ensembl chrNW_004936726:2,045,191...2,224,251 		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_004936726:338,384...349,943
Ensembl chrNW_004936726:338,423...349,943 		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_004936726:1,457,038...1,487,374
Ensembl chrNW_004936726:1,457,002...1,486,530 		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_004936631:100,072...196,557
Ensembl chrNW_004936631:108,310...196,563 		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_004936726:709,037...728,696
Ensembl chrNW_004936726:709,038...731,338 		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_004936726:1,402,977...1,413,974
Ensembl chrNW_004936726:1,399,050...1,429,205 		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_004936726:872,368...892,185
Ensembl chrNW_004936726:869,238...891,283 		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_004936726:649,413...708,816
Ensembl chrNW_004936726:649,418...708,820 		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_004936726:1,931,221...1,958,457
Ensembl chrNW_004936726:1,931,183...1,958,215 		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_004936473:3,892,625...3,923,467
Ensembl chrNW_004936473:3,892,366...3,923,515 		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_004936473:3,807,895...3,856,760
Ensembl chrNW_004936473:3,814,112...3,856,792 		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_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523 		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_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590 		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_004936735:209,369...234,582 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_004936481:14,789,547...14,795,780 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_004936631:30,109...101,748
Ensembl chrNW_004936631:30,199...98,511 		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_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799 		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_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541 		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_004936726:734,269...867,709 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_004936726:1,958,561...2,010,972
Ensembl chrNW_004936726:1,922,060...2,010,981 		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_004936726:460,556...489,550
Ensembl chrNW_004936726:460,518...485,624 		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_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922 		JBrowse link
G Cd28 CD28 molecule 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_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407 		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_004936726:1,037,614...1,129,961
Ensembl chrNW_004936726:1,037,636...1,130,571 		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_004936726:381,888...425,565
Ensembl chrNW_004936726:381,835...423,311 		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 ClinVar
OMIM		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098 PMID:10189842 More... NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		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_004936726:1,753,318...1,846,977
Ensembl chrNW_004936726:1,753,652...1,843,405 		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_004936726:600,213...631,513
Ensembl chrNW_004936726:600,420...625,853 		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_004936726:1,256,684...1,275,324
Ensembl chrNW_004936726:1,256,678...1,275,467 		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_004936726:1,853,178...1,922,684
Ensembl chrNW_004936726:1,853,868...1,902,788 		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_004936631:562,650...572,263
Ensembl chrNW_004936631:551,394...570,804 		JBrowse link
G LOC101964504 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_004936726:2,234,611...2,295,527
Ensembl chrNW_004936726:2,235,361...2,298,775 		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_004936726:893,411...938,876
Ensembl chrNW_004936726:892,550...938,969 		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_004936726:2,045,202...2,224,477
Ensembl chrNW_004936726:2,045,191...2,224,251 		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_004936726:338,384...349,943
Ensembl chrNW_004936726:338,423...349,943 		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_004936726:1,457,038...1,487,374
Ensembl chrNW_004936726:1,457,002...1,486,530 		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_004936631:100,072...196,557
Ensembl chrNW_004936631:108,310...196,563 		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_004936726:709,037...728,696
Ensembl chrNW_004936726:709,038...731,338 		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_004936726:1,402,977...1,413,974
Ensembl chrNW_004936726:1,399,050...1,429,205 		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_004936726:872,368...892,185
Ensembl chrNW_004936726:869,238...891,283 		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_004936726:649,413...708,816
Ensembl chrNW_004936726:649,418...708,820 		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_004936726:1,931,221...1,958,457
Ensembl chrNW_004936726:1,931,183...1,958,215 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30591564 PMID:31827280 PMID:31827281 More... NCBI chrNW_004936534:9,326,307...9,361,943
Ensembl chrNW_004936534:9,325,249...9,361,949 		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_004936497:2,944,841...2,986,113
Ensembl chrNW_004936497:2,945,010...2,995,207 		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_004936501:2,301,072...2,329,346
Ensembl chrNW_004936501:2,300,835...2,329,351 		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_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261 		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_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
B-Cell Chronic Lymphocytic Leukemia 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:21133730 RGD:11039455 NCBI chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601 		JBrowse link
G Apoe apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chrNW_004936491:6,021,340...6,118,103
Ensembl chrNW_004936491:6,021,343...6,118,568 		JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment
no_association
severity		 ISO DNA:snp:promoter:g.-938C>A (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:B cell (human)		 RGD
CTD		 PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 More... RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921 		JBrowse link
G Bmf Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004936471:3,573,437...3,594,438
Ensembl chrNW_004936471:3,577,221...3,594,981 		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_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664 		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_004936813:429,400...467,481
Ensembl chrNW_004936813:429,224...463,441 		JBrowse link
G Cbl Cbl proto-oncogene severity ISO DNA:hypophosphorylation:CD5+ B cell:
mRNA,protein:increased expression:CD5+ B cell:		 RGD PMID:17804547 RGD:11038803 NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288 		JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chrNW_004936900:495,551...563,184
Ensembl chrNW_004936900:495,547...556,316 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280 		JBrowse link
G Cd40lg CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Cd5 CD5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chrNW_004936581:1,854,166...1,866,843
Ensembl chrNW_004936581:1,854,460...1,873,142 		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_004936541:4,534,233...4,537,448
Ensembl chrNW_004936541:4,534,246...4,537,590 		JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chrNW_004936483:17,216,288...17,296,430
Ensembl chrNW_004936483:17,216,213...17,294,534 		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_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chrNW_004936927:134,770...144,057 JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chrNW_004936485:19,547,836...19,570,716 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_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chrNW_004936745:427,093...504,653
Ensembl chrNW_004936745:426,846...504,672 		JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chrNW_004936735:209,369...234,582 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_004936689:2,261,163...2,449,951
Ensembl chrNW_004936689:2,259,477...2,344,764 		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_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958 		JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174 		JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Il10 interleukin 10 no_association
disease_progression		 ISO DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
DNA:SNPs: :multiple
protein:increased expression:serum		 RGD PMID:10638947 PMID:19573080 PMID:22945689 RGD:11041895 RGD:11049165 RGD:11049174 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chrNW_004936557:5,765,093...5,769,853
Ensembl chrNW_004936557:5,765,093...5,769,853 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il1b interleukin 1 beta severity ISO protein:decreased expression:plasma:
DNA:SNP:promoter:-511C>T (human)		 RGD PMID:10870116 PMID:18271063 RGD:11051967 RGD:11522755 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		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_004936549:7,015,595...7,016,246 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_004936633:1,565,293...1,580,859
Ensembl chrNW_004936633:1,564,637...1,580,859 		JBrowse link
G Itga4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chrNW_004936509:10,215,283...10,293,653
Ensembl chrNW_004936509:10,215,283...10,292,252 		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_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chrNW_004936818:453,635...569,194
Ensembl chrNW_004936818:453,635...567,469 		JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G LOC101971027 neuroendocrine secretory protein 55 disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chrNW_004936530:1,353,432...1,407,437 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_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083 		JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chrNW_004936581:2,466,294...2,477,530
Ensembl chrNW_004936581:2,466,312...2,477,530 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		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_004936473:27,672,237...27,676,339
Ensembl chrNW_004936473:27,671,797...27,676,372 		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_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590 		JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chrNW_004936558:3,106,819...3,149,689
Ensembl chrNW_004936558:3,108,283...3,149,765 		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_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500 		JBrowse link
G Plcg2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:24869598